Edmar Zanoteli
Address to access this CV: http://lattes.cnpq.br/0345383118760159
Lattes ID: 0345383118760159
Last CV update on 08/23/2023
Graduated in Medicine from the Federal University of Espírito Santo (1990), residency in Neurology from the
Federal University of São Paulo, Master's degree in Medicine (Neurology) from the Federal University of São Paulo
(1996), PhD in Medicine (Neurology) from the Federal University of São Paulo (2000) and Professorship from
FMUSP (2013). Post-doctorate at the Department of Biology and Tumor Cell at St Jude Children's Research
Hospital between 2005 and 2008 under the supervision of Dr Alessandra d`Azzo. He is currently Associate
Professor MS5 in the Department of Neurology at the Faculty of Medicine of the University of São Paulo. He has
experience in the field of Medicine, with an emphasis on Neuromuscular Diseases, working mainly on the
following topics: neuromuscular diseases, muscle biopsy and molecular biology in neuromuscular diseases. The
lines of research are related to the study of the mechanisms involved in muscle atrophy and hypertrophy and the
use of animal models to study the pathophysiology of neuromuscular diseases. (Text provided by the author)
Identification
Name
Name in bibliographic citations
Lattes iD
Edmar Zanoteli
ZANOTELI, E.;Zanoteli, Edmar;ZANOTELI, E;Zanoteli
http://lattes.cnpq.br/0345383118760159
Address
Professional address
University of São Paulo, Faculty of Medicine of the University of São Paulo.
Av Dr Arnaldo, 455, Lab Neurocir Functional, LIN45, room 2115
Pinheiros
01246-903 - Sao Paulo, SP - Brazil
Academic graduation / title
1996 - 2000
PhD in Neurology / Neurosciences .
Federal University of São Paulo, UNIFESP, Brazil.
Title: Magnetic resonance imaging of the masticatory muscles and temporomandibular
joint in Steinert's myotonic dystrophy. , Year obtained: 2000. Advisor: Acary Souza Bulle
Oliveira. Scholarship from: National Council for Scientific and Technological Development,
CNPq, Brazil. Keywords: Temporomandibular joint; Chewing muscles; Myotonic dystrophy;
Magnetic resonance imaging; Neuromuscular diseases. Major area: Health Sciences Major
Area: Health Sciences / Area: Medicine / Subarea: Neurology / Specialty: Neuromuscular
Diseases. Activity sectors: Human Health.
1994 - 1996
Master's degree in Neurology / Neurosciences .
Federal University of São Paulo, UNIFESP, Brazil.
Title: Centronuclear myopathy. Study of 10 patients, Year of Obtainment: 1996.
1991 - 1994
Advisor:
Acary Souza Bulle Oliveira.
Scholarship from: National Council for Scientific and Technological Development, CNPq,
Brazil.
Keywords: Centronuclear myopathy; Congenital myopathy; Histochemistry.
Major area: Health Sciences
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology / Specialty: Muscle
Biopsy.
Activity sectors: Human Health.
Specialization - Medical residency .
Federal University of São Paulo, UNIFESP, Brazil. Medical residency at:
Registration number: .
Scholarship from: Ministry of Education, MEC, Brazil.
Degree in Medicine.
Federal University of Espírito Santo, UFES, Brazil.
1984 - 1990
Postdoctoral and Associate Professorship
2013
2005 - 2008
Free teaching.
University of São Paulo, USP, Brazil.
Title: Molecular mechanisms involved in trophism and regeneration of muscle fibers, Year
obtained: 2013.
Keywords: atrophy; hypertrophy; Muscle regeneration.
Major area: Health Sciences
Sectors of activity: Human health care activities.
Post doctoral.
St Jude Children's Research Hospital, ST JUDE, United States.
Scholarship from: National Institute of Health, NIH, United States.
Major area: Biological Sciences
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology / Specialty:
Neuromuscular Diseases.
Major Area: Health Sciences / Area: Medicine / Subarea: Neuromuscular Diseases /
Specialty: Exercise Physiology.
Complementary Training
2011 - 2011
Myology. (Workload: 160h).
Newcastle Muscle Center, Institute of Genetic Medicine, Newcastle Univ., NMC-IGM-NU,
Great Britain.
Professional performance
University of São Paulo, USP, Brazil.
institutional bond
2015 - Current
Bond: , Functional Framework:
Faculty of Medicine - University of São Paulo, FMUSP, Brazil.
institutional bond
2013 - Current
Employment: , Functional Framework: MS5 Professor, Workload: 24
institutional bond
2008 - 2013
Employment: , Functional Framework: Fundação Faculdade de Medicina, Workload: 30
Activities
12/2008 - Current
Research and development, Discipline of Experimental Neurology.
Lines of research
Analysis of muscle proteins in neuromuscular diseases
Genetic study in neuromuscular diseases
Molecular mechanisms of muscle atrophy and regeneration
Federal University of São Paulo, UNIFESP, Brazil.
institutional bond
2003 - 2005
Job Title: Public Servant, Job Title: Other (Adjunct Professor level I, substitute), Workload:
20
institutional bond
2001 - 2003
Employment: Visiting Professor, Functional Framework: Other (collaborator), Workload: 20
Activities
1/2003 - Current
3/2001 - Current
Research and development, Department of Neurology/Neurosurgery, Clinical Neurology
Discipline.
Lines of research
Neuromuscular diseases
Molecular biology
Myopathies
Teaching, Medicine, Level: Undergraduate
Subjects taught
Neurological semiology
Research lines
1.
two.
3.
4.
5.
6.
Neuromuscular diseases
Objective: Phenotypic characterization of patients with neuromuscular diseases.
Major area: Health Sciences
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology / Specialty: Muscle
Biopsy.
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology / Specialty:
Neuromuscular Diseases.
Activity sectors: Health and Social Services.
Keywords: Neuromuscular diseases.
Molecular biology
Objective: Study of the SMN gene in progressive spinal amyotrophy.
Major area: Health Sciences
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology.
Activity sectors: Health and Social Services.
Keywords: Progressive spinal amyotrophy; SMN.
Myopathies
Objective: Histological analysis of skeletal muscle tissue in different forms of muscle
diseases.
Major area: Health Sciences
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology / Specialty: Muscle
Biopsy.
Activity sectors: Health and Social Services.
Keywords: Myopathies; Muscle biopsy.
Analysis of muscle proteins in neuromuscular diseases
Objective: Study of the expression of muscle proteins in the muscle tissue of patients with
neuromuscular diseases.
Major area: Health Sciences
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology / Specialty:
Neuromuscular Diseases.
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology.
Activity sectors: Health and Social Services.
Keywords: Neuromuscular diseases; Muscle proteins; Myopathies.
Genetic study in neuromuscular diseases
Objective: Search for mutations in genes responsible for different forms of neuromuscular
diseases.
Major area: Health Sciences
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology.
Major Area: Health Sciences / Area: Medicine / Subarea: Genetics.
Activity sectors: Health and Social Services.
Keywords: Neuromuscular diseases; Genetic study; mutation.
Molecular mechanisms of muscle atrophy and regeneration
Objective: To analyze the effect of lysosomal enzyme deficiency on the processes of
muscle atrophy and regeneration. To analyze the protective effect of medications and
dietary supplements on experimentally induced muscle atrophy.
Major area: Health Sciences
Major Area: Health Sciences / Area: Medicine / Subarea: Neuromuscular Diseases /
Specialty: Exercise Physiology.
Major Area: Health Sciences / Area: Medicine / Subarea: Neurology / Specialty:
Neuromuscular Diseases.
Activity sectors: Health and Social Services.
Keywords: Muscle biopsy; muscle regeneration; muscle atrophy.
research project
2019 - Current
2018 - Current
Retrospective Cohort Study on the Natural History of Spinal Muscular Atrophy Type 1 Using
Medical Record Data
Description: Global, multicenter, retrospective, cohort study of participants with genetically
confirmed type 1 SMA treated in the same centers or receiving similar SOC as participants
in clinical study BP39056 (chart review). The overall objective of this study is to describe
the natural history of spinal muscular atrophy (SMA) type 1 in a population similar to
participants included in study BP39056 and treated in the same centers or receiving
standard of care (SOC). similar to those of study centers BP39056.
Status: In progress; Nature: Research.
Students involved: Doctorate: (2) .
Members: Edmar Zanoteli - Coordinator / Rodrigo Holanda de Mendonça - Member / Ciro
Matsui Junior - Member / Graziela Jorge Polido - Member.
Clinical, histological and molecular study of patients with congenital muscular dystrophy
due to merosin deficiency
Description: Congenital Muscular Dystrophies (CMDs) are a clinically and genetically
2018 - Current
heterogeneous group of muscle diseases that manifest at birth or in the first year of life,
characterized by hypotonia, muscle weakness, delayed motor development and
fibrotendinous retractions. The skeletal muscle appears dystrophic, but without specific
structural changes. In almost half of cases, the disease is caused by a deficiency of laminin
α-2 (merosin). Other protein deficiencies described include: collagen VI, selenoprotein N1,
several glycosyltransferases responsible for the glycosylation of α-dystroglycan and lamin
A/C. The objective of this study will be the clinical, histological and molecular
characterization of patients with CMD due to merosin deficiency. For the molecular study,
next generation sequencing (SNG) will be used to investigate mutations in the LAMA2 gene
in patients with a clinical and/or histological diagnosis of CMD. Additionally, histological
analysis of muscle biopsies already collected will be carried out. Obtaining a combined
clinical, histological and genomic profile in CMD due to merosin deficiency will enable a
better understanding of the basis of the disease, an unequivocal molecular diagnosis, and
will certainly contribute directly to effective therapeutic planning for those with this
disease. Situation
: In progress; Nature: Research.
Students involved: Doctorate: (1) .
Members: Edmar Zanoteli - Coordinator / Umbertina Conti Reed - Member / Clara Gontijo
Camelo - Member / Mariana Cunha Gunner - Member.
Number of C, T & A productions: 1
Natural History of infantile spinal muscular atrophy: Clinical, functional and
electrophysiological study
Description: Spinal Muscular Atrophy (SMA) linked to 5q, related to mutations in the SMN1 2018 - Current
gene, is one of the most prevalent genetically caused neuromuscular diseases in our
country, and also an important cause of lethality in its most severe forms. In Brazil, there
are few studies on the natural history of the disease, evaluating its progression from a
motor and functional point of view, using scales widely validated in the literature, and the
emergence of associated complications, mainly respiratory and orthopedic. From a genetic
point of view, it is already known that the number of copies of the SMN2 gene influences
the phenotype in an inverse relationship with the severity of the disease, however we do
not know the data on this correlation in our population. Finally, there are some studies in
the literature that use electrophysiology techniques to evaluate the motor unit and its
progressive loss during diseases that affect the motor neuron, but none to date have used
the MUNIX (Motor Unit Index) in patients with SMA. This parameter is interesting because
it is easily reproducible and assesses the loss of motor neurons in muscle groups even
before they become weak. There is also the possibility of patients having access to recently
developed disease-modifying therapies, already available in our country, and, eventually, if
any patient has access, possible changes in the natural history of the disease will be
assessed in relation to other patients whose disease follows its natural course. It is,
therefore, a study that aims at a global assessment of the natural history of SMA, focusing
mainly on functional scales, correlation with the genetic point of view (number of copies of
the SMN2 gene), and the hitherto unprecedented use of MUNIX in this population. Status
: In progress; Nature: Research.
Students involved: Doctorate: (1) .
Members: Edmar Zanoteli - Coordinator / Reed, Umbertina C - Member / Rodrigo Holanda
de Mendonça - Member / Ciro Matsui Junior - Member / Graziela Jorge Polido - Member.
Number of C, T & A productions: 1
Phenotypic and genetic characterization in structural congenital myopathies
Description: Myopathies include a broad group of genetically determined or lifelong
2018 - Current
diseases caused by abnormalities in muscle fiber. The main subtypes with genetic causes
include congenital myopathies, muscular dystrophies, metabolic myopathies and
channelopathies. Structural congenital myopathies manifest themselves in the first months
of life with weakness, motor delay and hypotonia and tend to evolve in a stable or slowly
progressive manner. Depending on the histological findings, they are classified into
different subtypes: nemaline, central-core, minicore, centronuclear, congenital fiber
disproportion, among other rarer ones. More than 30 genes have already been identified in
this form of myopathy, which makes molecular diagnosis difficult and time-consuming,
limiting adequate knowledge of the natural history of the disease. The objective includes
clinical and functional motor evaluation, as well as molecular analysis, in patients with
structural congenital myopathies, in a large national reference medical center, seeking an
early and specific diagnosis. It is expected to correlate the clinical aspects with the variants
found, determine the frequency of the main subtypes, and characterize their natural
history. Methodology includes clinical and functional motor assessment (MFM-Motor
Function Measurement and MRC-Medical Research Council scales) and molecular analysis
through next generation sequencing (SNG) using a panel of genes related to congenital
myopathies. Early and specific diagnosis of structural congenital myopathies will enable a
specific multidisciplinary approach, adequate genetic counseling, inclusion of patients in
future clinical studies, and more detailed knowledge of the natural history. Status: In
progress
; Nature: Research.
Students involved: Doctorate: (4) .
Members: Edmar Zanoteli - Coordinator / Andre Macedo Serafim da Silva - Member /
CALDAS, VITOR M. - Member / Umbertina Conti Reed - Member / Clara Gontijo Camelo Member / Eduardo de Paula Estephan - Member.
Financier(s): National Council for Scientific and Technological Development - Financial aid.
Number of C, T & A productions: 3
Analysis of skeletal muscles in patients with typical and atypical forms of inclusion body
myositis using magnetic resonance imaging and ultrasound
Description: Inclusion body myositis (IBM) is the most common muscle disease after the 2018 - Current
age of 50. Although it is included in the group of inflammatory myopathies, recent studies
have shown a particular process of muscle degeneration characterized by abnormal
deposition of protein aggregates and abnormal functioning of the main protein degradation
systems. Many patients present some clinical and histological characteristics that do not
allow us to diagnose them as MCI, thus being considered possible or even atypical cases.
An example would be polymyositis with mitochondrial changes. In this study we intend to
evaluate the main muscle groups of the upper and lower limbs in 30 patients with welldefined MCI and with suspicious or atypical forms, including polymyositis with
mitochondrial changes, using nuclear magnetic resonance with the aim of determining a
typical image profile of the MCI, even in those doubtful cases or with atypical
manifestations. Additionally, among these patients, a group of 18 will also undergo an
ultrasound (US) study of the skeletal muscles with the aim of comparing the effectiveness
of both exams (MRI and US) in the muscular assessment of these patients. Characterizing
muscle involvement is important to determine the degree of muscle degeneration and
inflammation, and the muscle groups most affected in the disease, in addition to helping to
diagnose inflammatory myopathies without a defined diagnosis. Such information will be
useful both to assist in diagnosis and to prescribe immunosuppressive and rehabilitation
medications.
Status: In progress; Nature: Research.
Students involved: Doctorate: (1) .
Members: Edmar Zanoteli - Coordinator / Andre Macedo Serafim da Silva - Member / Júlio
Brandão Guimarães - Member / Wagner Cid Palmeira Cavalcante - Member / Marcelo
Astolfi C. Nico - Member / Alipio Gomes Ormond Filho - Member / Laís Ueda Aivazoglou Member.
Financier(s): Fleury Medicina e Saúde - Cooperation.
Clinical, histological and molecular study of patients with distal and myofibrillar myopathies
Description: Distal myopathies (MD) are a heterogeneous group of muscular diseases,
2018 - Current
where the predominance of impairment of muscular strength occurs in the distal portions
of the extremities (hands and feet), differing from the classic picture of predominantly
proximal weakness of the main myopathies, such as muscular dystrophies. Myofibrillar
myopathies (MMF), in turn, refer to skeletal muscle and cardiac diseases, with changes in
proteins in the Z-disc of the sarcomere, formation of protein aggregates and disarray of
myofibrils, being, therefore, a large group within myopathies. distal, eventually studied as
a separate group, due to their heterogeneity and importance. In this study we aim to
identify patients in our country diagnosed with MD and MMF with the aim of characterizing
them clinically, histologically and according to molecular diagnosis. Patients will be clinically
evaluated according to muscle strength and motor function examination. Muscle biopsies
already performed will be reviewed and subjected to immunohistochemical analysis for
desmin, alpha-B-crystallin and myotilin. For the molecular study, next generation
sequencing (SNG) will be used to investigate mutations in genes associated with MD and
MMF using Illumina platforms. Data from subsidiary exams already carried out will also be
used, such as muscle imaging exams, cardiological and respiratory evaluation, CK dosage
and electrophysiological study. This study is expected to identify this group of patients in
our country and improve clinical and genetic characterization, helping with early diagnosis
and reduction of motor and cardiological complications.
Status: In progress; Nature: Research.
Students involved: Doctorate: (1) .
Members: Edmar Zanoteli - Coordinator / Andre Macedo Serafim da Silva - Member / Leslie
Domenici Kulikowski - Member.
Funder(s): Medical Research Laboratories - LIM, HCFMUSP - Financial aid.
Number of C, T & A productions: 1
International Pompe disease registry
Description: Introduction: Pompe disease is a rare autosomal recessive muscular metabolic 2018 - Current
disease caused by acid alpha-glucosidase (GAA) deficiency. The International Pompe
Registry was developed to investigate the natural history of the disease and understand its
variability and evolution as well as monitor and evaluate available treatments. Given the
rarity of the disease, the predicted number of cases in Brazil is too small to meet the
scientific requirements necessary to obtain the greatest impact of scientific evidence.
Therefore, the scope of data collection must include an international level. Objective:
Collect as much clinical, therapeutic and comorbid information from cases diagnosed with
POMPE Disease in our country. Methods: Clinical observation, propaedeutic and therapeutic
study aiming to collect medical information from patients diagnosed with POMPE Disease.
The Pompe Registry is a multicenter, multinational, observational program of patients with
Pompe disease. It aims to systematically analyze multivariate clinical data focused on the
natural history of the disease: therapeutic interventions; increased survival; identification
of comorbidities; time spent on ventilator; regression of cardiac pathology through enzyme
replacement therapy intervention; study of quality of life before and after replacement
therapy. Registry staff will perform statistical analysis of data derived from the Registry
using the SAS® statistical software system. Expected results: Systematic collection from
an observational program that investigates the natural history and therapeutic results of
patients with Pompe disease will allow understanding the variability and evolution of
Pompe disease, monitoring and evaluating available treatments. The clinical data made
available will be able to generate a series of medical reports on therapeutic efficacy and
safety for responsible doctors as well as regulatory bodies.
Status: In progress; Nature: Research.
Members: Edmar Zanoteli - Coordinator.
Financier(s): Genzyme do Brasil - Financial assistance.
Open-Label Study of RISDIPLAM in Infants With Presymptomatic, Genetically Diagnosed
Spinal Muscular Atrophy (BN40703 (Rainbowfish)
Description: Open-label, single-group, multicenter clinical study to investigate the efficacy, 2018 - Current
safety, pharmacokinetics and pharmacodynamics of risdiplam in infants genetically
diagnosed with spinal muscular atrophy (SMA) but not yet experiencing symptoms. The
primary efficacy objective of this study is to evaluate the efficacy of risdiplam in patients
with two copies of the survival motor neuron (SMN) 2 gene (excluding the known SMN2
gene-modifying mutation c.859G>C) and compound muscle action potential. baseline
(CMAP) ≥ 1.5 mV, determined by the proportion of patients who sit without support after
12 months of treatment. Sitting is defined as ?sitting without support for 5 seconds? as
assessed on Item 22 of the Bayley Scales of Development for Infants and Children®, Third
Edition (BSID-III) Gross Motor Scale.
Status: In progress; Nature: Research.
Students involved: Doctorate: (2) .
Members: Edmar Zanoteli - Coordinator / Ciro Matsui Junior - Member / Graziela Jorge
Polido - Member / Rodrigo Holanda Mendonça - Member.
Open-label, multicenter, two-part, ongoing study to investigate the safety, tolerability,
pharmacokinetics, pharmacodynamics, and efficacy of RO7034067 in infants with spinal
muscular atrophy type 1
Description: Open-Label, Phase I/Ia Clinical Trial to Evaluate the Safety, Pharmacokinetics, 2015 - 2018
and Pharmacodynamics of RO7034067 in Infants with Infantile Spinal Muscular Atrophy
Type I [Werdnig-Hoffman] SMA Type 1 and Select the Dose for Part 2. Muscular Atrophy
spinal cord injury (SMA) is an autosomal recessive neuromuscular disease characterized by
progressive loss of proximal motor neurons leading to muscle weakness and profound
neuromotor disability beginning in childhood.
Status: In progress; Nature: Research.
Members: Edmar Zanoteli - Coordinator / Umbertina Conti Reed - Member / Rodrigo
Holanda de Mendonça - Member / Ciro Matsui Junior - Member.
Financier(s): F HOFFMANN LA ROCHE LTD - Financial aid.
Clinical, histological and molecular study of patients with congenital muscular dystrophy
due to collagen VI deficiency
Project certified by coordinator Umbertina Conti Reed on 12/27/2018.
Description: Congenital Muscular Dystrophies (CMDs) are a clinically and genetically
2015 - 2018
heterogeneous group of muscle diseases that manifest at birth or in the first year of life,
characterized by hypotonia, muscle weakness, delayed motor development and
fibrotendinous retractions. The skeletal muscle appears dystrophic, but without specific
structural changes. In almost half of cases, the disease is caused by a deficiency of laminin
α-2 (merosin). Other protein deficiencies described include: collagen VI, selenoprotein N1,
several glycosyltransferases responsible for the glycosylation of α-dystroglycan and lamin
A/C. The objective of this study will be the clinical, histological and molecular
characterization of patients with CMD due to collagen VI deficiency. For the molecular
study, two methodologies will be used: (1) complete genome screening using bead arrays
and (2) next generation sequencing (SNG) to investigate mutations in the COL6A1,
COL6A2 and COL6A3 genes, both using Illumina platforms, in patients with clinical and
histological diagnosis of CMD in which the immunohistochemical study excluded merosin,
dystrophin, dysferlin and sarcoglycan deficiency. Additionally, histological analysis of
muscle biopsies already collected will be carried out. The expression of collagen VI in
cultured fibroblasts will also be analyzed in some of the patients with identified mutations.
Obtaining a combined clinical, histological and genomic profile of the different clinical
forms of CMD due to collagen VI deficiency will enable a better understanding of the basis
of the disease, an unequivocal molecular diagnosis, and will certainly contribute directly to
effective therapeutic planning for patients with this condition. illness..
Status: Completed; Nature: Research.
Members: Edmar Zanoteli - Member / Umbertina Conti Reed - Coordinator / Leslie
Domenici Kulikowski - Member.
Financier(s): (FAPESP) São Paulo State Research Support Foundation - Financial
assistance.
Involvement of neuraminidase 1 in the regulation of muscle mass and cell proliferative
potential
Description: Neuraminidase-1 (Neu1) regulates the catabolism of sialoglycoconjugates in 2010 - 2013
lysosomes. Congenital Neu1 deficiency is the basis of sialidosis, a severe neurosomatic
disease associated with osteoskeletal deformities, hypotonia and muscle weakness. Neu1deficient mice develop an atypical form of muscle degeneration characterized by abnormal
proliferation of fibroblasts, expansion of the extracellular matrix (ECM), invasion of muscle
fibers by fibroblasts, fragmentation of the cytoplasm, vacuolar formation, and muscle
atrophy. The occurrence of muscle atrophy indicates that Neu1 deficiency must be related
to the control of muscle mass, which is dependent on the balance between protein
synthesis and degradation. On the other hand, we recently demonstrated that Neu1
deficiency affects the regenerative capacity of muscle tissue. The presence of excessive
proliferation of fibroblasts suggests that Neu1 is related to the control of cell proliferative
potential. Previous studies have shown that fibroblasts from patients with sialidosis have a
high proliferative capacity, possibly due to a greater response to PDGF-BB and IGF-2. The
objectives of this study are to investigate the expression of membrane receptors involved
in cell proliferation pathways, such as IGFr and PDGFr, in skeletal muscle and fibroblasts
from mice with Neu1 deficiency, and to evaluate the effects of drugs that inhibit these
receptors on the changes in the ECM of these animals. Considering the importance of
autophagy in the elimination of aged proteins and cellular structures, we will study
whether Neu1 deficiency would affect its induction through food deprivation and the
administration of autophagy-activating drugs. Finally, considering that muscle atrophy is
one of the main phenotypic changes observed in animals with Neu1 deficiency, we will
investigate whether hypersialylated cathepsins would act as one of the factors responsible
for the development of muscle atrophy in these animals. The results obtained from this
study may provide important information regarding the involvement of Neu1 in controlling
the activity of cell proliferation receptors and in the control of muscle mass, as well as
understanding the pathophysiology of muscle phenotypic changes observed in Neu1
deficiency.. Situation
: Concluded; Nature: Research.
Students involved: Bachelor's degree: (1) / Academic master's degree: (1) / Doctorate: (1)
.
Members: Edmar Zanoteli - Coordinator / Juliana de Carvalho Neves - Member / Rubens de
Larina Neto - Member.
Financier(s): (FAPESP) São Paulo State Research Support Foundation - Financial
assistance.
Number of C, T & A productions: 4
Effect of Omega-3 fatty acid in preventing dexamethasone-induced muscle atrophy
Descrição: Várias são as condições que podem estar associadas com atrofia muscular, tais 2010 - 2012
como inatividade, envelhecimento, septicemia, diabetes, câncer e uso de glicocorticóides.
Todas estas condições levam a atrofia muscular através de mecanismos que incluem
aumento da degradação protéica e/ou redução na síntese protéica, envolvendo pelo menos
cinco sistemas: lisossomal, da calpaína, das caspases, metaloproteinases e o sistema
ubiquitina-proteasoma. Os corticosteróides promovem atrofia muscular atuando em quase
todas estas vias. Considerando que são anti-inflamatórios não hormonais largamente
usados na prática médica, a identificação de medicamentos ou suplementos alimentares
capazes de aliviar os efeitos deletérios sobre a musculatura esquelética seria de grande
valor médico. O ácido graxo Ômega-3 têm se mostrado eficaz na atenuação da atrofia
muscular na caquexia do Câncer dentro outros benefícios em demais sistemas do corpo
humano.O objetivo primário deste estudo é o de avaliar o efeito do ácido graxo ômega-3
na prevenção da atrofia muscular induzida pela dexametasona. Ratos tratados e não
tratados oralmente com ômega-3 serão submetidos à administração de dexametasona
subcutânea. Através de estudo histológico, imunohistoquímico e por Western blot, serão
avaliados a área transversa dos diferentes tipos de fibras musculares, a expressão de
proteínas relacionadas com a via Akt/mTOR e de fatores de transcrição muscular MyoD e
miogenina. Serão também avaliados a expressão gênica dos atrogenes (atrogina-1 e
MuRF1) e dos fatores de transcrição MyoD e miogenina através de PCR em tempo real. A
identificação de potenciais suplementos alimentares com propriedades de prevenir ou
aliviar um dos mais importantes efeitos colaterais dos glicocorticóides, i.e. atrofia muscular,
e as possíveis vias moleculares de atuação, certamente será uma grande contribuição para
a prática médica..
Situação: Concluído; Natureza: Pesquisa.
Alunos envolvidos: Graduação: (1) / Mestrado acadêmico: (1) .
Integrantes: Edmar Zanoteli - Coordenador / Alan Fappi - Integrante / Tiago Suzuki Godoy
- Integrante.
Número de produções C, T & A: 3
Estudo clínico, histológico e molecular de crianças portadoras e distrofia muscular
congênita com deficiência de lamina A/C e FKRP
Descrição: O estudo visa pesquisar mutações nos genes da lamina A/C e FKRP em crianças 2010 - 2012
com distrofia muscular congênita, e descrever os seus aspectos clínicos e histológicos a
biopsia muscular..
Situação: Concluído; Natureza: Pesquisa.
Alunos envolvidos: Doutorado: (2) .
Integrantes: Edmar Zanoteli - Integrante / Marco A.V. Albuquerque - Integrante / Lívia M.
A. Pasqualin - Integrante / Umbertina Conti Reed - Coordenador.
Financiador(es): Fundação de Amparo à Pesquisa do Estado de São Paulo - Auxílio
financeiro.
Número de produções C, T & A: 3
Envolvimento da neuraminidase 1 na atrofia e regeneração muscular
Descrição: Neuraminidase-1 (Neu1) é uma enzima que participa da regulação do
catabolismo de sialoglicoconjugados nos lisosomos. A deficiência congênita da Neu1 em
crianças é a base da sialidose, doença neurosomática grave associada a sintomas de
hipotonia, fraqueza muscular e deformidades osteoesqueléticas. Camundongos com
deficiência da Neu1 desenvolvem uma forma atípica de degeneração muscular
caracterizada por expansão da matriz extracelular (MEC) devido à proliferação anormal de
fibroblastos, invasão das fibras musculares por componentes da MEC acompanhada de
fragmentação do citoplasma, formação vacuolar e atrofia muscular. O objetivo desta
pesquisa é o de investigar o envolvimento da Neu1 nos processos de atrofia e regeneração
musculares. Experimentalmente, serão avaliados em camundongos com deficiência de
Neu1 a capacidade proliferativa das células satélites, a resposta inflamatória, a maturação
das fibras musculares, e o desenvolvimento de fibrose durante o processo de regeneração
muscular induzida por administração intramuscular de cardiotoxina. Mioblastos com
deficiência de Neu1 serão avaliados in vitro quanto a sua capacidade proliferativa, de fusão
e de diferenciação. Desnervação por secção do nervo ciático será realizada em de
camundongos com deficiência de Neu1, com o objetivo de verificar os efeitos histológicos
da indução de atrofia na musculatura esquelética e a formação de autofagosomos.
Mioblastos deficientes para Neu1 serão avaliados in vitro quanto à formação de
autofagossomos através de privação de nutrientes. A determinação da participação da
Neu1 na fisiologia da fibra muscular será de grande valor na compreensão da
sintomatologia do envolvimento neuromuscular em crianças portadoras de sialidose, e
também da importância dos lisosomos e do metabolismo do ácido siálico na fisiopatologia
das doenças musculares..
Situação: Concluído; Natureza: Pesquisa.
Alunos envolvidos: Graduação: (1) / Mestrado acadêmico: (2) .
Integrantes: Edmar Zanoteli - Coordenador / Geisa O. Xavier - Integrante / Vanessa
Rodrigues Rizzato - Integrante / Juliana de Carvalho Neves - Integrante.
Financiador(es): (FAPESP) Fundação de Amparo à Pesquisa do Estado de São Paulo Auxílio financeiro.
Número de produções C, T & A: 4
Membro de corpo editorial
2018 - Atual
Periódico: ARQUIVOS DE NEURO-PSIQUIATRIA
Revisor de periódico
2000 - Atual
2006 - Atual
2007 - Atual
2015 - Atual
2015 - Atual
2015 - Atual
2015 - Atual
Periódico:
Periódico:
Periódico:
Periódico:
Periódico:
Periódico:
Periódico:
Arquivos de Neuro-Psiquiatria
Revista de Neurociências
Arquivos de Ciências da Saúde (FAMERP) (1807-1325)
JOURNAL OF THE NEUROLOGICAL SCIENCES
NEUROMUSCULAR DISORDERS
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
MUSCLE & NERVE
Revisor de projeto de fomento
2018 - Atual
Agência de fomento: Prinses Beatrix Spierfonds
2009 - Atual
Funding agency: (FAPESP) São Paulo State Research Support Foundation
Areas of expertise
1.
Major area: Health Sciences / Area: Medicine / Subarea: Neurology/Specialty:
Neuromuscular Diseases.
Major area: Health Sciences / Area: Medicine / Subarea: Neurology/Specialty: Molecular
Biology.
Major area: Health Sciences / Area: Medicine / Subarea: Neurology/Specialty: Muscle
Biopsy.
two.
3.
Languages
English
Understands Well, Speaks Well, Reads Well, Writes Well.
Awards and titles
2014
Best free topic presented at the XXVI Brazilian Congress of Neurology, Curitiba, Brazilian
Academy of Neurology.
Prof. Award Lineu Cesar Werneck (experimental area), Brazilian Society for Research in
Neurology.
World Muscle Society Subscription Prizes (15 awards) the 17th Congress of World Muscle
Society, Perth, Australia, World Muscle Society.
Best work at the VI Brazilian Congress of Child Neurology, Brazilian Society of Child
Neurology.
2014
2012
2011
Productions
bibliographic production
Quotes
SCOPUS
Total works: 146
Total citations: 1480
Zanoteli, E. Date: 09/08/2022
Complete articles published in journals
Order by
Chronological order
1.
CAMEL, CLARA GONTIJO; GUNNER, MARIANA CUNHA; MARTINS MORENO, CRISTIANE ARAÚJO; FERRACIOLLI,
SUELY FAZIO; SERAFIM SILVA, ANDRÉ MACEDO; FERNANDES, TATIANA RIBEIRO; LUCATO, LEANDRO TAVARES ; ROCHA,
ANTÔNIO JOSÉ; Reed, Umbertina Conti ; Zanoteli, Edmar . Brain MRI Abnormalities, Epilepsy and Intellectual Disability in
LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation. Journal Of Neuromuscular Diseases
, vol. 10, p. 483-492,
2023.
two.
MOREIRA, ANA LUCILA; MENDONÇA, RODRIGO HOLANDA ; POLIDO, GRAZIELA JORGE ; OLIVEIRA, MARCOS
CASTELLO BARBOSA ; SILVA, ANDRÉ MACEDO SERAFIM ; Zanoteli, Edmar . Muscle Ultrasound Changes Correlate With
Functional Impairment in Spinal Muscular Atrophy. ULTRASOUND IN MEDICINE AND BIOLOGY
, v. 49, p. 1549-1574,
2023.
3.
CAMEL, CLARA GONTIJO; MARTINS MORENO, CRISTIANE DE ARAÚJO; GUNNER, MARIANA CUNHA; SERAFIM SILVA,
ANDRÉ MACEDO; PAINTINGS MONTEIRO FONSECA, ALULIN TÁCIO ; MENDONÇA DE HOLANDA, RODRIGO; Reed,
Umbertina Conti ; Zanoteli, Edmar . Hypoglycemia in Patients With LAMA2-CMD. PEDIATRIC NEUROLOGY
, v. 143, p.
1-5, 2023.
4.
MORENO, CRISTIANE ARAUJO MARTINS ; GUNNER, MARIANA CUNHA; FONSECA, ALULIN TACIO QUADROS SANTOS
MONTEIR ; CAMEL, CLARA GONTIJO; MEDEIROS, GISELE CHAGAS DE; SASSI, FERNANDA CHIARION ; ANDRADE, CLAUDIA
REGINA FURQUIM DE ; DONKERVOORT, SANDRA ; SILVA, ANDRE MACEDO SERAFIM ; DALFIOR-JUNIOR, LUIZ ; ABATHNETO, OSORIO LOPES; Reed, Umbertina Conti ; BÖNNEMANN, CARSTEN ; Zanoteli, Edmar . Clinical Manifestation of
Nebulin-Associated Nemaline Myopathy. NEUROLOGY GENETICS
, v. 9, p. e200056, 2023.
Citations:
5.
6.
1 | 1
FELIX, THEMIS MARY; FISCHINGER MOURA DE SOUZA, CAROLINA; OLIVEIRA, JOÃO BOSCO ; RICO-RESTREPO,
MARIANA; Zanoteli, Edmar ; ZATZ, Mayana ; GIUGLIANI, ROBERTO . Challenges and recommendations to increasing the
use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
International Journal for Equity in Health
, vol. 22, p. 1, 2023.
Citations:
1 | 1
SCHIAVA, MARIANELA IKENAGA, CHISEKO TOPF, ANA CABALLERO-ÁVILA, MARTA CHOU, TSUI-FEN LI, SHAN WANG,
FENG DAW, JIL STOJKOVIC, TANYA VILLAR-QUILES, ROCIO NISHINO, ICHIZO INOUE, MICHIO NISHIMORI, YUKAKO SAITO,
YOSHIHIKO KATSUNO, MASAHISA NODA, SEIYA ITO, CHIHIRO OTSUKA, MIEKO NAHIR, SRUTHI MANOUSAKIS, GEORGIOS
WALK, DAVID QUINN, COLIN ALFANO, LINDSAY SAHENK, ZARIFE TASCA, GIORGIO, et al . ; Clinical Classification of
Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. NEUROLOGY GENETICS
, v.
9, p. e200093, 2023.
7.
SONNE, ALEXANDER; ANTONOVIC, ANNA KATARINA ; MELHEDEGAARD, ELISE ; AKTER, FARIHA; ANDERSEN, JESPER
L. ; JUNGBLUTH, HEINZ ; Witting, Nanna ; Vissing, John ; Zanoteli, Edmar ; FORNILI, ARIANNA ; OCHALA, JULIEN .
Abnormal myosin post-translational modifications and turnover time associated with human congenital myopathy-related
mutations. Acta Physiologica
, v. 238, p. 1-1, 2023.
8.
CANCES, CLAUDE VLODAVETS, DMITRY MASSON, RICCARDO GORNI, KSENIJA GRAVESTOCK, ISAAC HOFFART,
JANINE SCALCO, RENATA S. DARRAS, BASIL T. ALBERTI, KATIA BARANELLO, GIOVANNI BARISIC, NINA BROLATTI, NOEMI
BRUNO, CLAUDIO COMI, GIACOMO PIETRO DECONINCK, NICO LAS VOS, ELKE DE WAELE, LIESBETH DODMAN, ANGELA
DOSI, CLAUDIA EL-KHAIRI, MUNA ENGELBREKT, AMANDA GOEMANS, NATHALIE GOVONI, ALESSANDRA HAGINOYA,
KAZUHIRO KOTULSKA-JOZWIAK, KATARZYNA, et al . ; Natural history of Type 1 spinal muscular atrophy: a retrospective,
global, multicenter study. Orphanet Journal of Rare Diseases
, vol. 17, p. 300, 2022.
9.
10.
11.
12.
13.
14.
15.
Citations:
2 | 4
SILVA, ANDRÉ MACEDO SERAFIM ; RODRIGO, PATRICIA ; MORENO, CRISTIANE ARAÚJO MARTINS ; MENDONÇA,
RODRIGO DE HOLANDA; ESTEPHAN, EDUARDO DE PAULA ; CAMEL, CLARA GONTIJO; CAMPOS, ELIENE DUTRA; DIAS,
ALEXANDRE TORCHIO; NASCIMENTO, AMOM MENDES; KULIKOWSKI, LESLIE DOMENICI ; OLIVEIRA, ACARY SOUZA BULLE
; Reed, Umbertina Conti ; GOLDFARB, LEV G ; OLIVÉ, MONTSE ; Zanoteli, Edmar . The Location of Disease-Causing DES
Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates. JOURNAL OF
NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
, v. 81, p. 1-1, 2022.
Citations:
1 | 1
SCHIAVA, MARIANELA IKENAGA, CHISEKO VILLAR-QUILES, ROCÍO NUR CABALLERO-ÁVILA, MARTA TOPF, ANA
NISHINO, ICHIZO KIMONIS, VIRGINIA UDD, BJARNE SCHOSER, BENEDIKT Zanoteli, Edmar SOUZA, PAULO VICTOR SGOBBI
TASCA, GIORGIO LLOYD, THOMAS LOPE Z- DE MUNAIN , ADOLFO PARADAS, CARMEN PEGORARO, ELENA NADAJPAKLEZA, ALEKSANDRA DE BLEECKER, JAN BADRISING, UMESH ALONSO-JIMÉNEZ, ALICIA KOSTERA-PRUSZCZYK, ANNA
MIRALLES, FRANCESC SHIN, JIN-HONG BEVILACQUA, JORGE ALFREDO OLIVÉ, MONTSE , et al . ; Genotype-phenotype
correlations in valosin-containing protein disease: a retrospective muticentre study. JOURNAL OF NEUROLOGY
NEUROSURGERY AND PSYCHIATRY
, v. 93, p. jnnp-2022-328921, 2022.
Quotes:
7 | 7
AIVAZOGLOU, LAÍS U. ; GUIMARÃES, JULIO B. ; COSTA, MARIA ALICE F. ; AIHARA, ANDRÉ YUI; CARDOSO, FABIANO
N. ; PINTO, WLADIMIR BV DE R. ; DE SOUZA, PAULO VICTOR S. ; DA SILVA, ANDRÉ MS ; Zanoteli, Edmar ; Oliveira,
Acary SB; CARVALHO, ALZIRA AS ; FERNANDES, ARTUR DA RC . Whole-body magnetic resonance imaging in limb girdle
muscular dystrophy type /: correlation with clinical scores. MUSCLE & NERVE
, v. 66, p. 1-1, 2022.
Citations:
1 | 1
KAIYRZHANOV, RAUAN ; PERRY, LUKE ; ROCCA, CLARISSA; ZAKI, MAHA S. ; HOSNY, HEBA; ARAUJO MARTINS
MORENO, CRISTIANE ; PHADKE, RAHUL ; ZAHARIEVA, IRINA ; CAMEL GONTIJO, CLARA; BEETZ, CHRISTIAN ; PINI,
VERONICA ; MOVAHEDINIA, MOJTABA ; Zanoteli, Edmar ; DITROIA, STEPHANIE ; VUILLAUMIER'BARROT, SANDRINE ;
ISAPOF, ARNAUD ; MEHRJARDI, MOHAMMAD YAHYA VAHIDI ; GHASEMI, NASRIN ; SARKOZY, ANNA ; MUNTONI,
FRANCESCO ; WHALEN, SANDRA ; VONA, BARBARA; HOULDEN, HENRY ; MAROOFIAN, REZA . -associated muscular
dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology
, vol. 9, p. 1-1, 2022.
Citations:
1 | 1
DA SILVA SOARES, DIANA BENTO ; SHINJO, SAMUEL KATSUYUKI ; SANTOS, ARITÂNIA SOUSA ; DE CASSIA ROSA DE
JESUS, JOYCE ; SCHENK, SIMON ; DE CASTRO, GABRIELA SALIM ; Zanoteli, Edmar ; KRUSTRUP, PETER ; DA SILVA,
MARIA ELIZABETH ROSSI ; DE SOUSA, MAYSA VIEIRA . Skeletal muscle gene expression in older adults with type 2 diabetes
mellitus undergoing calorie-restricted diet and recreational sports training - a randomized clinical trial. EXPERIMENTAL
GERONTOLOGY
, v. 164, p. 111831, 2022.
Citações:
1 | 2
WINCKLER, PABLO BREA ; CHWAL, BRUNA CRISTINE ; DOS SANTOS, MARCO ANTONNIO ROCHA ; BURGUÊZ,
DANIELA ; POLESE-BONATTO, MARCIA ; Zanoteli, Edmar ; SIEBERT, MARINA ; VAIRO, FILIPPO PINTO E ; CHAVES,
MÁRCIA LORENA FAGUNDES ; SAUTE, JONAS ALEX MORALES . Diagnostic yield of multi-gene panel for muscular
dystrophies and other hereditary myopathies. NEUROLOGICAL SCIENCES
, v. 43, p. 4473-4481, 2022.
Citações:
2 | 2
ESTEPHAN, EDUARDO P. ; ZAMBON, ANTONIO A. ; THOMPSON, RACHEL ; POLAVARAPU, KIRAN ; JOMAA, DANNY ;
TÖPF, ANA ; HELITO, PAULO V. P. ; HEISE, CARLOS O. ; MORENO, CRISTIANE A. M. ; SILVA, ANDRÉ M. S. ;
KOUYOUMDJIAN, JOAO A. ; MORITA, MARIA DA PENHA ; REED, UMBERTINA C. ; LOCHMÜLLER, HANNS ; Zanoteli, Edmar
. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. EUROPEAN JOURNAL OF
NEUROLOGY
, v. 29, p. 833-842, 2022.
Citações:
16.
6 |
9
BILHAR, ANDREISA P. M. ; BORTOLINI, MARIA A. T. ; SÉ, ALEXANDRE B. ; FEITOSA, SUELLEN M. ; Zanoteli, Edmar
; CASTRO, RODRIGO A. . Long-term effects of muscle-derived stem cell therapy on the regeneration of the urethra of female
rats. INTERNATIONAL UROGYNECOLOGY JOURNAL
, v. 33, p. 965-975, 2022.
Citações:
1 | 1
17.
RANU, NATASHA ; LAITILA, JENNI ; DUGDALE, HANNAH F. ; MARIANO, JENNIFER ; KOLB, JUSTIN S. ; WallgrenPettersson, Carina ; Witting, Nanna ; Vissing, John ; VILCHEZ, JUAN JESUS ; FIORILLO, CHIARA ; Zanoteli, Edmar ;
AURANEN, MARI ; JOKELA, MANU ; TASCA, GIORGIO ; CLAEYS, KRISTL G. ; VOERMANS, NICOL C. ; PALMIO, JOHANNA ;
HUOVINEN, SANNA ; MOGGIO, MAURIZIO ; BECK, THOMAS NYEGAARD ; KONTROGIANNI-KONSTANTOPOULOS,
AIKATERINI ; GRANZIER, HENK ; OCHALA, JULIEN . NEB mutations disrupt the super-relaxed state of myosin and remodel
the muscle metabolic proteome in nemaline myopathy. ACTA NEUROPATHOLOGICA COMMUNICATIONS
, v. 10, p. 185,
2022.
18.
19.
20.
Citações:
3 | 5
MASSON, RICCARDO MAZURKIEWICZ-BE'DZI'SKA, MARIA ROSE, KRISTY SERVAIS, LAURENT XIONG, HUI Zanoteli,
Edmar BARANELLO, GIOVANNI BRUNO, CLAUDIO DAY, JOHN W DECONINCK, NICOLAS KLEIN, ANDREA MERCURI,
EUGENIO VLODAVETS, DMITRY WANG, YI DODMAN, ANGELA EL-KHAIRI, MUNA GORNI, KSENIJA JABER, BIRGIT KLETZL,
HEIDEMARIE GAKI, ELENI FONTOURA, PAULO DARRAS, BASIL T VOLPE, JOSEPH J POSNER, JOHN KELLNER, ULRICH , et
al. ; Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary
analyses from an open-label trial. LANCET NEUROLOGY
, v. 21, p. 1110-1119, 2022.
Citações:
13 | 16
Gurgel-Giannetti, Juliana ; SOUZA, LUCAS SANTOS ; YAMAMOTO, GUILHERME L. ; BELISARIO, MARINA ; LAZAR,
MONIZE ; CAMPOS, WILSON ; PAVANELLO, RITA DE CASSIA M. ; ZATZ, Mayana ; REED, UMBERTINA ; Zanoteli, Edmar ;
OLIVEIRA, ACARY BULLE ; LEHTOKARI, VILMA-LOTTA ; CASELLA, ERASMO B. ; MACHADO-COSTA, MARCELA C. ; WallgrenPettersson, Carina ; LAING, NIGEL G. ; NIGRO, VINCENZO ; VAINZOF, Mariz . Nemaline Myopathy in Brazilian Patients:
Molecular and Clinical Characterization. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
, v. 23, p. 11995, 2022.
Citations:
1 | 1
MENDONÇA, RODRIGO HOLANDA ; Zanoteli, Edmar . Gene therapy in neuromuscular disorders. Arquivos de NeuroPsiquiatria (Online)
, v. 80, p. 249-256, 2022.
21.
SILVA, ANDRÉ MACEDO SERAFIM ; CAMPOS, ELIENE DUTRA ; Zanoteli, Edmar . Inflammatory myopathies: an
update for neurologists. Arquivos de Neuro-Psiquiatria (Online)
, v. 80, p. 238-248, 2022.
22.
MORENO, CRISTIANE ARAUJO MARTINS ; CAMELO, CLARA GONTIJO ; SAMPAIO, PEDRO HENRIQUE MARTE DE
ARRUDA ; FONSECA, ALULIN TÁCIO QUADROS SANTOS MONTEIRO ; ESTEPHAN, EDUARDO DE PAULA ; SILVA, ANDRÉ
MACEDO SERAFIM ; PIROLA, RENANN NUNES ; SILVA, LUIZ HENRIQUE LIBARDI ; LIMA, KARLLA DANIELLE FERREIRA ;
ALBUQUERQUE, MARCO ANTÔNIO VELOSO DE ; CAMELO FILHO, ANTONIO EDVAN ; MARQUES, MARCOS VINÍCIUS
OLIVEIRA ; YANAGIURA, MARIO TERUO ; CAVALCANTE, WAGNER CID PALMEIRA ; MATSUI JUNIOR, CIRO ; ISIHI, LUCAS
MICHIELON DE AUGUSTO ; MENDONÇA, RODRIGO HOLANDA ; POUZA, ANA FLÁVIA PINCERNO ; CARVALHO, MARY SOUZA
DE ; Reed, Umbertina Conti ; Zanoteli, Edmar . Effect of the COVID-19 pandemic on patients with inherited neuromuscular
disorders. Arquivos de Neuro-Psiquiatria (Online)
, v. 80, p. 563-569, 2022.
23.
DE HOLANDA MENDONÇA, RODRIGO ; JORGE POLIDO, GRAZIELA ; MATSUI, CIRO ; JORGE FONTOURA SOLLA, DAVI
; CONTI REED, UMBERTINA ; Zanoteli, Edmar . Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated
with Nusinersen. JOURNAL OF NEUROMUSCULAR DISEASES
, v. 8, p. 1-8, 2021.
24.
25.
26.
27.
28.
Quotes:
6 | 8
MENDONÇA, RODRIGO H. ; POLIDO, GRAZIELA J. ; MATSUI, CIRO ; SILVA, ANDRÉ M.S. ; SOLLA, DAVI J.F. ; REED,
UMBERTINA C. ; Zanoteli, Edmar . Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal
Muscular Atrophy: A Single Center Experience. JOURNAL OF NEUROMUSCULAR DISEASES
, v. 8, p. 101-108, 2021.
Citations:
18 | 18
ALONSO-PÉREZ, JORGE GONZÁLEZ-QUEREDA, LIDIA BRUNO, CLAUDIO PANICUCCI, CHIARA ALAVI, AFAGH NAFISSI,
SHAHRIAR NILIPOUR, YALDA Zanoteli, Edmar DE AUGUSTO ISIHI, LUCAS MICHIELON MELEGH, BÉLA HADZSIEV, KINGA
MUELAS, NURIA VÍLCHEZ, JUAN J DOURADO, MARIO EMILIO KADEM, NAZ KUTLUK, GULTEKIN UMAIR, MUHAMMAD
YOUNUS, MUHAMMAD PEGORANO, ELENA BELLO, LUCA CRAWFORD, THOMAS O SUÁREZ-CALVET, XAVIER TÖPF, ANA
GUGLIERI, MICHELA MARINI-BETTOLO, CHIARA , et al. ; Clinical and genetic spectrum of a large cohort of patients with
δ-sarcoglycan muscular dystrophy. BRAIN
, v. 145, p. 1-1, 2021.
Citações:
7 | 7
ARAUJO, C.S.R. ; MIOSSI, R. ; DE SOUZA, F.H.C. ; COSTA, M.D. ; DA SILVA, A.M.S. ; CAMPOS, E.D. ; ZANOTELI, E. ;
SHINJO, S.K. . Brachio-cervical inflammatory myopathy associated with systemic sclerosis. Case series and review of
literature. Reumatismo
, v. 73, p. 122-130, 2021.
Citações:
4 | 3
DARRAS, BASIL T. ; MASSON, RICCARDO ; MAZURKIEWICZ-BE'DZI'SKA, MARIA ; ROSE, KRISTY ; XIONG, HUI ;
Zanoteli, Edmar ; BARANELLO, GIOVANNI ; BRUNO, CLAUDIO ; VLODAVETS, DMITRY ; WANG, YI ; EL-KHAIRI, MUNA ;
GERBER, MARIANNE ; GORNI, KSENIJA ; KHWAJA, OMAR ; KLETZL, HEIDEMARIE ; SCALCO, RENATA S. ; FONTOURA,
PAULO ; SERVAIS, LAURENT . Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
NEW ENGLAND JOURNAL OF MEDICINE
, v. 385, p. 427-435, 2021.
Citações:
72 | 94
BEN YAOU, RABAH YUN, POMI DABAJ, IVANA NORATO, GINA DONKERVOORT, SANDRA XIONG, HUI NASCIMENTO,
ANDRÉS MAGGI, LORENZO SARKOZY, ANNA MONGES, SOLEDAD BERTOLI, MARTA KOMAKI, HIROFUMI MAYER, MICHÈLE
MERCURI, EUGENIO Zanoteli, Edmar CASTIGLIONI, CLAUDIA MARINI-BETTOLO, CHIARA D?AMICO, ADELE DECONINCK,
NICOLAS DESGUERRE, ISABELLE ERAZO-TORRICELLI, RICARDO Gurgel-Giannetti, Juliana ISHIYAMA, AKIHIKO
KLEINSTEUBER, KARIN S LAGRUE, EMMANUELLE , et al. ; International retrospective natural history study of LMNA related congenital muscular dystrophy. Brain Communications
, v. 3, p. 1-1, 2021.
Citações:
11 | 13
29.
CARNEIRO, ANDRÉIA ; VIANA-GOMES, DIEGO ; MACEDO-DA-SILVA, JANAINA ; LIMA, GISCARD HUMBERTO
OLIVEIRA ; MITRI, SIMONE ; ALVES, SERGIO RABELLO ; KOLLIARI-TURNER, ALEXANDER ; Zanoteli, Edmar ; NETO,
FRANCISCO RADLER DE AQUINO ; PALMISANO, GIUSEPPE ; Pesquero, João Bosco ; MOREIRA, JOSINO COSTA ; PEREIRA,
MARCOS DIAS . Risk factors and future directions for preventing and diagnosing exertional rhabdomyolysis.
NEUROMUSCULAR DISORDERS
, v. 31, p. 583-595, 2021.
30.
31.
32.
33.
34.
35.
36.
37.
38.
39.
40.
Citações:
4 | 3
BRUCKI, SONIA MARIA DOZZI ADONI, TARSO ALMEIDA, CARLOS MAURICIO OLIVEIRA ANDRADE, DANIEL CIAMPI
DE ANGHINAH, RENATO BARBOSA, LUCIANA MENDONÇA BAZAN, RODRIGO CARVALHO, ALZIRA ALVES DE SIQUEIRA
CARVALHO, WILLIAM CHRISTO, PAULO PEREIRA COLETTA, MARCUS DELLA CONFORTO, ADRIANA BASTOS CORREA-NETO,
YLMAR ENGELHARDT, ELIASZ FRANÇA JUNIOR, MARCONDES CAVALCANTE FRANCO, CLELIA VON GLEHN, FELIPE GOMES,
HELIO RODRIGUES HOULY, CAROLINE GOMES DE BARROS KAUP, ALEXANDRE OTTONI KOWACS, FERNANDO KANASHIRO,
ALINE LOPES, VICTOR GONÇALVES MAIA, DÉBORA MANREZA, MARIA , et al. ; Cannabinoids in Neurology - Position paper
from Scientific Departments from Brazilian Academy of Neurology. Arquivos de Neuro-Psiquiatria (Online)
, v. 79, p. 354369, 2021.
Citações: 2
GUIMARAES, JULIO BRANDAO ; CAVALCANTE, WAGNER CID PALMEIRA ; CRUZ, ISABELA A.N. ; NICO, MARCELO A. ;
FILHO, ALÍPIO G. ORMOND ; DA SILVA, ANDRE M. SERAFIM ; Zanoteli, Edmar . Musculoskeletal Ultrasound in Inclusion
Body Myositis: A Comparative Study with Magnetic Resonance Imaging. ULTRASOUND IN MEDICINE AND BIOLOGY
, v.
47, p. 2186-2192, 2021.
Citações:
8 | 11
LEONI, TAUANA BERNARDES ; GONZÁLEZ'SALAZAR, CARELIS ; REZENDE, THIAGO JUNQUEIRA R. ; HERNÁNDEZ,
ANA LUISA C. ; MATTOS, ALEXANDRE HILÁRIO B. ; COIMBRA NETO, ANTÔNIO RODRIGUES ; GRAÇA, FELIPE FRANCO ;
GONÇALVES, JOÃO PEDRO NUNES ; MARTINEZ, ALBERTO R.M. ; TANIGUTI, LUCAS ; KITAJIMA, JOÃO PAULO ; KOK,
FERNANDO ; ROGÉRIO, FÁBIO ; SILVA, ANDRÉ MACEDO SERAFIM ; OLIVEIRA, ALEXANDRE LEITE RODRIGUES ; Zanoteli,
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MORENO, CRISTIANE DE ARAÚJO MARTINS ; Reed, Umbertina Conti ; Zanoteli, Edmar . Severe progressive brain
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FONSECA, ALULIN TÁCIO QUADROS SANTOS MONTEIRO ; ALBUQUERQUE, MARCO ANTÔNIO VELOSO ; MORENO,
CRISTIANE ARAÚJO MARTINS ; LOPES ABATH NETO, OSÓRIO ; NOVO FILHO, GIL MONTEIRO ; KULIKOWSKI, LESLIE
DOMENICI ; Reed, Umbertina Conti . Clinical features of collagen VI-related dystrophies: A large Brazilian cohort. CLINICAL
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SOUZA, LUCAS SANTOS ; ALMEIDA, CAMILA FREITAS ; YAMAMOTO, GUILHERME LOPES ; PAVANELLO, RITA DE
CÁSSIA MINGRONI ; Gurgel-Giannetti, Juliana ; DA COSTA, SILVIA SOUZA ; ANEQUINI, ISABELA PESSA ; DO CARMO,
SILVANA AMANDA ; WANG, JAQUELINE YU TING ; SCLIAR, MARÍLIA DE OLIVEIRA ; CASTELLI, ERICK C. ; OTTO, PAULO
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ACARY SOUZA BULLE SOUZA, PAULO VICTOR SGOBBI DE PINTO, WLADIMIR BOCCA VIEIRA DE REZENDE GONÇALVES,
EDUARDO AUGUSTO FARIAS, IGOR BRAGA NARDES, FLÁVIA ARAÚJO, ALEXANDRA PRUFER DE QUEIROZ CAMPOS
MARQUES, WILSON TOMASELLI, PEDRO JOSÉ RIB EIRO, MARA DELL OSPEDALE KITAJIMA, JOÃO PAULO PAOLI
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SILVA, ANDRÉ MACEDO SERAFIM ; ESTEPHAN, EDUARDO DE PAULA ; Zanoteli, Edmar . Electrophysiological study of
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; CAVAGNARI, PAMELA ; KUSMA, SOLENA ZIEMER ; MOREIRA, LUCIANE ; Zanoteli, Edmar ; ALLEMANN, NORMA.
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JÚLIO BRANDÃO OLIVEIRA, ACARY SOUZA B ULLE Reed , Umbertina Conti MESROB, LILIA LECHNER, DORIS BOLAND,
ANNE DELEUZE, JEAN-FRANÇOIS MALFATTI, EDOARDO BONNEMANN, CARSTEN LAPORTE, JOCELYN ROMERO, NORMA
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Zanoteli, Edmar . Centronuclear myopathy: advances in genetic understanding and potential for future treatments.
Expert Opinion on Orphan Drugs
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5
CORREIA, CAROLINA DA CUNHA; FONTANA, PEDRO NOGUEIRA ; DE GÓES, GUSTAVO HENRIQUE BELARMINO;
Zanoteli, Edmar . Clinical Variability in 2 Siblings With Late-Onset Pompe Disease. JOURNAL OF CLINICAL
NEUROMUSCULAR DISEASE, v. 20, p. 47-48, 2018.
Citações: 1
ZAHARIEVA, IRINA SARKOZY, ANNA MUNOT, PINKI MANZUR, ADNAN O'GRADY, GINA RENDU, JOHN MALFATTI,
EDUARDO AMTHOR, HELGE SERVAIS, LAURENT URTIZBEREA, J. ANDONI Neto, Osorio Abath Zanoteli, Edmar
DONKERVOORT, SANDRA TAYLOR, JULIET DIXON, JOANNE POKE, GEMMA FOLEY, A. REGHAN HOLMES, CHRIS WILLIAMS,
GLYN HOLDER, MURIEL YUM, SABRINA MEDNE, LIVIJA QUIJANO-ROY, SUSANA ROMERO, NORMA B. FAURÉ, JULIEN , et al.
; variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
HUMAN MUTATION
, v. 39, p. 1-1, 2018.
Citações:
31 | 35
ESTEPHAN, EDUARDO DE PAULA ; ZAMBON, ANTONIO ALBERTO ; MARCHIORI, PAULO EURÍPEDES ; DA SILVA,
ANDRÉ MACEDO SERAFIM ; CALDAS, VITOR MARQUES ; MORENO, CRISTIANE ARAÚJO MARTINS ; Reed, Umbertina Conti ;
HORVATH, RITA ; TÖPF, ANA ; LOCHMÜLLER, HANNS ; Zanoteli, Edmar . Clinical variability of early-onset congenital
myasthenic syndrome due to biallelic RAPSN mutations in Brazil. NEUROMUSCULAR DISORDERS
, v. 28, p. 1-1, 2018.
Citações:
9 | 9
QUADROS SANTOS MONTEIRO FONSECA, ALULIN TÁCIO ; Zanoteli, Edmar . Charcot-Marie-Tooth disease. REVISTA
MÉDICA CLÍNICA LAS CONDES
, v. 29, p. 521-529, 2018.
SAMPEDRO CASTAÑEDA, MARISOL ; Zanoteli, Edmar ; SCALCO, RENATA S ; SCARAMUZZI, VINICIUS ; MARQUES
CALDAS, VITOR ; CONTI REED, UMBERTINA ; DA SILVA, ANDRE MACEDO SERAFIM ; O?CALLAGHAN, BENJAMIN ; PHADKE,
RAHUL ; BUGIARDINI, ENRICO ; SUD, RICHA ; MCCALL, SAMUEL ; HANNA, MICHAEL G ; POULSEN, HANNE ; MÄNNIKKÖ,
ROOPE ; MATTHEWS, EMMA . A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS
symptoms. BRAIN
, v. 141, p. 1-1, 2018.
Citações:
20 | 24
80.
PALLO, PABLO ARTURO OLIVO ; SILVA, ANDRÉ MACEDO SERAFIM DA ; Zanoteli, Edmar ; SHINJO, SAMUEL .
McArdle?s disease: an underestimated or underdiagnosed myopathy in rheumatologic practice? Cases series and literature
review. MEDICAL EXPRESS, v. 5, p. 1-1, 2018.
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WIESSNER, MANUELA ROOS, ANDREAS MUNN, CHRISTOPHER J. VISWANATHAN, RANJITH WHYTE, TAMIEKA COX,
DAN SCHOSER, BENEDIKT SEWRY, CAROLINE ROPER, HELEN PHADKE, RAHUL MARINI BETTOLO, CHIARA BARRESI, RITA
CHARLTON, RICHARD BÖNNEMANN, CARSTEN G. ABATH NETO, OSÓRIO REED, UMBERTINA C. Zanoteli, Edmar ARAÚJO
MARTINS MORENO, CRISTIANE ERTL-WAGNER, BIRGIT STUCKA, ROLF DE GOEDE, CHRISTIAN BORGES DA SILVA, TAMIRIS
HATHAZI, DENISA DELL?AICA, MARGHERITA ZAHEDI, RENÉ P. , et al. ; Mutations in INPP5K, Encoding a Phosphoinositide
5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of
Human Genetics
, v. 100, p. 1-10, 2017.
Citações:
40 | 45
ESTEPHAN, EDUARDO DE PAULA ; MORENO, CRISTIANE ARAÚJO MARTINS ; SILVA, ANDRÉ MACEDO SERAFIM DA ;
MENDONÇA, RODRIGO DE HOLANDA ; ABATH NETO, OSÓRIO ; NISHIMURA, PATRÍCIA YOSHI ; GALINDO, LAYLA TESTA ;
Zanoteli, Edmar . Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.
Arquivos de Neuro-Psiquiatria (Online)
, v. 75, p. 72-73, 2017.
Citações:
1 | 1
GRATIVVOL, RONNYSON SUSANO ; SILVA, ANDRÉ MACEDO SERAFIM DA ; GUEDES, BRUNO FUKELMANN ;
ESTEPHAN, EDUARDO DE PAULA ; MENDONÇA, RODRIGO DE HOLANDA ; ZAMBON, ANTÔNIO ALBERTO ; HEISE, CARLOS
OTTO ; Zanoteli, Edmar . Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis.
Arquivos de Neuro-Psiquiatria (Online)
, v. 75, p. 197-198, 2017.
Citações:
3 | 2
POLIDO, GRAZIELA JORGE ; BARBOSA, ALESSANDRA FERREIRA ; MORIMOTO, CARLOS HITOSHI ; CAROMANO,
FÁTIMA APARECIDA ; FAVERO, FRANCIS MEIRE ; Zanoteli, Edmar ; Reed, Umbertina Conti ; VOOS, MARIANA CALLIL .
Matching pairs difficulty in children with spinal muscular atrophy type I. Neuromuscular Disorders
, v. 27, p. 1-5, 2017.
Citações:
12 | 13
Neto, Osorio Abath DE ARAÚJO MARTINS MORENO, CRISTIANE MALFATTI, EDOARDO DONKERVOORT, SANDRA
Böhm, Johann GUIMARÃES, JÚLIO BRANDÃO FOLEY, A. REGHAN MOHASSEL, PAYAM DASTGIR, JAHANNAZ BHARUCHAGOEBEL, DIANA XERXES MONGES, SOLEDAD LUBIENIECKI, FABIANA COLLINS, JAMES MEDNE, L'VIJA SANTI, MARIARITA
YUM, SABRINA BANWELL, BRENDA SALORT-CAMPANA, EMMANUELLE RENDU, JOHN FAURÉ, JULIEN YIS, ULUC EYMARD,
BRUNO CHERAUD, CHRYSTEL SCHNEIDER, RAPHAËL THOMPSON, JULIE , et al. ; Common and variable clinical,
histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients. NEUROMUSCULAR
DISORDERS
, v. 27, p. 1-1, 2017.
Citações:
27 | 28
SILVA, ANDRÉ M.S. ; MENDONÇA, RODRIGO H. ; MORENO, CRISTIANE A.M. ; ESTEPHAN, EDUARDO P. ; HELITO,
PAULO V.P. ; CARVALHO, MARY S. ; Zanoteli, Edmar . Clinical, histological and radiological responses to
methylprednisolone in HIV-associated rod myopathy. NEUROMUSCULAR DISORDERS
, v. 27, p. 1-1, 2017.
Citações:
3 | 8
MORENO, CRISTIANE DE ARAÚJO MARTINS ; ABATH NETO, OSÓRIO ; DONKERVOORT, SANDRA ; HU, YING ; Reed,
Umbertina Conti ; OLIVEIRA, ACARY SOUSA BULLE ; BÖNNEMANN, CARSTEN ; Zanoteli, Edmar . Clinical and histological
findings in ACTA1 related nemaline myopathy: case series and review of literature. PEDIATRIC NEUROLOGY
, v. 71, p. 11, 2017.
Citações:
12 | 15
Biancalana, Valérie SCHEIDECKER, SOPHIE MIGUET, MARGUERITE LAQUERRIÈRE, ANNIE ROMERO, NORMA B.
STOJKOVIC, TANYA ABATH NETO, OSORIO MERCIER, SANDRA VOERMANS, NICOL TANNER, LAURA ROGERS, CURTIS
OLLAGNON-ROMAN, ELISABETH ROPER, HELEN BOUTTE, CÉLIA BEN-SHACHAR, SHAY LORNAGE, XAVIÈRE VASLI, NASIM
Schaefer, Elise LAFORET, PASCAL POUGET, JEAN MOERMAN, ALEXANDRE PASQUIER, LAURENT MARCORELLE, PASCALE
MAGOT, ARMELLE KÜSTERS, BENNO , et al. ; Affected female carriers of MTM1 mutations display a wide spectrum of
clinical and pathological involvement: delineating diagnostic clues. ACTA NEUROPATHOLOGICA
, v. 134, p. 1-20, 2017.
Citações:
37 | 42
ARAUJO, ALEXANDRA P. Q. C. ; CARVALHO, ALZIRA A. S. DE ; CAVALCANTI, EDUARDO B. U. ; SAUTE, JONAS ALEX
M. ; CARVALHO, ELMANO ; FRANÇA JUNIOR, MARCONDES C. ; MARTINEZ, ALBERTO R. M. ; NAVARRO, MONICA DE M. M. ;
NUCCI, ANAMARLI ; RESENDE, MARIA BERNADETE D. DE ; GONÇALVES, MARCUS VINICIUS M. ; Gurgel-Giannetti, Juliana ;
SCOLA, ROSANA H. ; SOBREIRA, CLÁUDIA F. DA R. ; REED, UMBERTINA C. ; Zanoteli, Edmar . Brazilian consensus on
Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives. ARQUIVOS DE NEURO-PSIQUIATRIA
,
v. 75, p. 589-599, 2017.
Citações:
15 | 13
SIMON, VALDECIR ANTONIO ; Zanoteli, Edmar ; SIMON, MARGARETE ANDREOZZI VAZ PEREIRA ; RESENDE,
MARIA BERNADETE DUTRA DE ; Reed, Umbertina Conti . Translation and validation of the Life Satisfaction Index for
Adolescents scale with neuromuscular disorders: LSI-A Brazil. ARQUIVOS DE NEURO-PSIQUIATRIA
, v. 75, p. 553-562,
2017.
Citações:
2 | 2
GUIMARAES, JULIO BRANDAO ; Zanoteli, Edmar ; LINK, THOMAS M. ; DE CAMARGO, LEONARDO V. ; FACCHETTI,
LUCA ; NARDO, LORENZO ; FERNANDES, ARTUR DA ROCHA CORREA . Sporadic Inclusion Body Myositis: MRI Findings and
Correlation With Clinical and Functional Parameters. AMERICAN JOURNAL OF ROENTGENOLOGY
, v. 209, p. W1-W8,
2017.
Citações:
92.
34 |
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SILVA, A. M. S. ; Zanoteli, Edmar . Instrumento diagnóstico em miopatias: biópsias musculares. REVISTA PAULISTA DE
REUMATOLOGIA, v. 16, p. 27-30, 2017.
93.
SILVA, A. M. S. ; ZANOTELI, E . Diagnóstico diferencial das miopatias autoimunes sistêmicas.. REVISTA PAULISTA DE
REUMATOLOGIA, v. 16, p. 39-42, 2017.
94.
ABATH NETO, OSORIO ; RODRIGUES E SILVA, MARINA ; MARTINS, CRISTIANE DE ARAÚJO ; OLIVEIRA, ACARY DE
SOUZA BULLE ; Reed, Umbertina Conti ; Biancalana, Valérie ; Pesquero, João Bosco ; LAPORTE, JOCELYN ; Zanoteli,
Edmar . A study of a cohort of X-linked myotubular myopathy at the clinical, histological and genetic level. Pediatric
Neurology
, v. 15, p. 30171-30175, 2016.
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ABRAHAO, AGESSANDRO ; ABATH NETO, OSÓRIO ; KOK, FERNANDO ; Zanoteli, Edmar ; SANTOS, BIBIANA ;
PINTO, WLADIMIR BOCCA VIEIRA DE REZENDE ; BARSOTTINI, ORLANDO GRAZIANI POVOAS ; OLIVEIRA, ACARY SOUZA
BULLE ; PEDROSO, JOSÉ LUIZ . One family, one gene and three phenotypes: A novel VCP (valosin-containing protein)
mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.
Journal of the Neurological Sciences
, v. 368, p. 352-358, 2016.
Citações:
32 | 33
GANG, QIANG BETTENCOURT, CONCEIÇÃO MACHADO, PEDRO M. BRADY, STEFEN HOLTON, JANICE L. PITTMAN,
ALAN M. HUGHES, DEBORAH HEALY, ESTELLE PARTON, MATTHEW HILTON-JONES, DAVID SHIEH, PERRY B. NEEDHAM,
MERRILEE LIANG, CHRISTINA Zanoteli, Edmar DE CAMARGO, LEONARDO VALENTE DE PAEPE, BOEL DE BLEECKER, JAN
SHAIBANI, AZIZ RIPOLONE, MICHELA VIOLANO, RAFFAELLA MOGGIO, MAURIZIO BAROHN, RICHARD J. DIMACHKIE,
MAZEN M. MORA, MARINA MANTEGAZZA, RENATO , et al. ; Rare variants in SQSTM1 and VCP genes and risk of sporadic
inclusion body myositis. Neurobiology of Aging
, v. 45, p. 1, 2016.
Citações:
36 | 40
ABATH NETO, OSORIO ; HEISE, CARLOS OTTO ; MORENO, CRISTIANE DE ARAÚJO MARTINS ; ESTEPHAN, EDUARDO
DE PAULA ; MESROB, LILIA ; LECHNER, DORIS ; BOLAND, ANNE ; DELEUZE, JEAN-FRANÇOIS ; OLIVEIRA, ACARY SOUZA
BULLE ; Reed, Umbertina Conti ; Biancalana, Valérie ; LAPORTE, JOCELYN ; Zanoteli, Edmar . Nonlethal CHRNA1-Related
Congenital Myasthenic Syndrome with a Homozygous Null Mutation. Canadian Journal of Neurological Sciences
, v. 43, p.
1-3, 2016.
Citações:
10 | 8
SCALCO, RENATA SICILIANI ; GARDINER, ALICE R ; PITCEATHLY, ROBERT DS ; Zanoteli, Edmar ; BECKER,
JEFFERSON ; HOLTON, JANICE L ; HOULDEN, HENRY ; JUNGBLUTH, HEINZ ; QUINLIVAN, ROS . Rhabdomyolysis: a genetic
perspective. Orphanet Journal of Rare Diseases
, v. 10, p. 51, 2015.
Citações:
80 | 84
DE CARVALHO NEVES, JULIANA ; RIZZATO, VANESSA RODRIGUES ; FAPPI, ALAN ; GARCIA, MARIANA MIRANDA ;
CHADI, GERSON ; VAN DE VLEKKERT, DIANTHA ; AZZO, ALESSANDRA D? ; Zanoteli, Edmar . Neuraminidase-1 mediates
skeletal muscle regeneration. Biochimica et Biophysica Acta. Molecular Basis of Disease
, v. 1852, p. 1, 2015.
Citações:
8 | 8
ABATH NETO, OSORIO ; MARTINS, CRISTIANE DE ARAÚJO ; CARVALHO, MARY ; CHADI, GERSON ; SEITZ, KATIA
WERNECK ; OLIVEIRA, ACARY SOUZA BULLE ; Reed, Umbertina Conti ; LAPORTE, JOCELYN ; Zanoteli, Edmar . DNM2
mutations in a cohort of sporadic patients with centronuclear myopathy. Genetics and Molecular Biology (online version)
v. 38, p. 147-151, 2015.
,
Citações:
9 | 11
ALBUQUERQUE, MARCO ANTÔNIO VELOSO DE ; ABATH NETO, OSÓRIO ; SILVA, FRANCISCO MARCOS ALENCAR DA ;
Zanoteli, Edmar ; Reed, Umbertina Conti . Limb-girdle muscular dystrophy type 2A in Brazilian children. Arquivos de
Neuro-Psiquiatria (Online)
, v. 73, p. 993-997, 2015.
Citações:
8 | 8
GANG, QIANG ; BETTENCOURT, CONCEICAO ; MACHADO, PEDRO M. ; FOX, ZOE ; BRADY, STEFEN ; HEALY, ESTELLE
; PARTON, MATT ; HOLTON, JANICE L. ; HILTON-JONES, DAVID ; SHIEH, PERRY B. ; Zanoteli, Edmar ; DE PAEPE, BOEL ;
DE BLEECKER, JAN ; SHAIBANI, AZIZ ; RIPOLONE, MICHELA ; VIOLANO, RAFFAELLA ; MOGGIO, MAURIZIO ; BAROHN,
RICHARD J. ; DIMACHKIE, MAZEN M. ; MORA, MARINA ; MANTEGAZZA, RENATO ; ZANOTTI, SIMONA ; HANNA, MICHAEL
G. ; HOULDEN, HENRY . The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body
myositis. Neurobiology of Aging
, v. 36, p. 1/S0197-4580, 2015.
Citações:
16 | 18
DE OLIVEIRA, GABRIELA P. ; MAXIMINO, JESSICA R. ; MASCHIETTO, MARIANA ; Zanoteli, Edmar ; PUGA, RENATO
D. ; LIMA, LEANDRO ; CARRARO, DIRCE M. ; CHADI, GERSON . Early Gene Expression Changes in Skeletal Muscle from
SOD1G93A Amyotrophic Lateral Sclerosis Animal Model. Cellular and Molecular Neurobiology
, v. 34, p. 1/24442855-1,
2014.
Citações:
23 | 27
Zanoteli, Edmar. Predicting the loss of ambulation in Duchenne muscular dystrophy. Arquivos de Neuro-Psiquiatria
(Impresso)
, v. 72, p. 1-2, 2014.
Citações:
3 | 2
ALBUQUERQUE, MARCO A.V. ; PASQUALIN, LÍVIA M. ; MARTINS, CRISTIANE A. ; REED, UMBERTINA C. ; Zanoteli,
Edmar . Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin
A/C mutations. Pediatric Neurology
, v. 50, p. 1-2, 2014.
Citações: 1
CASTRO, TCM ; LEDERMAN, H ; TERRERI, MT ; CALDANA, WI ; ZANOTELI, E ; HILÁRIO, MOE . Whole-body
magnetic resonance imaging in the assessment of muscular involvement in juvenile dermatomyositis/polymyositis patients.
Scandinavian Journal of Rheumatology (Trykt Utg.)
, v. 43, p. 1-5, 2014.
Citações:
16 | 20
107.
PASQUALIN, LÍVIA M.A. ; REED, UMBERTINA C. ; COSTA, THAIS V.M. M. ; QUEDAS, ELISÂNGELA ; VELOSO, MARCO
A.A. ; RESENDE, MARIA B.D. ; RUTKOWSKI, ANNE ; CHADI, GERSON ; Zanoteli, Edmar . Congenital Muscular Dystrophy
with Dropped Head Linked to the LMNA Gene in a Brazilian Cohort. Pediatric Neurology
, v. 50, p. 400-406, 2014.
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109.
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20 | 21
Fappi, A. ; Godoy, T.S. ; Maximino JR ; Rizzato, V.R. ; Neves, J.C. ; Chadi G ; ZANOTELI, E . The Effects of Omega-3
Fatty Acid Supplementation on Dexamethasone-Induced Muscle Atrophy. Biomed Research International
, v. 2014, p. 113, 2014.
Citações:
20 | 22
Albuquerque MAV ; ABATH-NETO, O. L. ; Maximino JR ; Chadi G ; Zanoteli, Edmar ; Reed, Umbertina C . Clinical
aspects of patients with sarcoglycanopathies under steroids therapy. Arquivos de Neuro-Psiquiatria (Impresso)
, v. 72, p.
768-772, 2014.
110.
Citações:
7 | 7
ABATH-NETO, O. L. ; Tassy O ; Biancalana, Valérie ; Zanoteli, Edmar ; Porquié O ; LAPORTE, J. . Integrative Data
Mining Highlights Candidate Genes for Monogenic Myopathies. Plos One
, v. 9, p. e110888, 2014.
111.
Citações:
15 | 16
Correia CC ; Magalhães MC ; Barbosa PL ; Campos ED ; ZANOTELI, E . Inclusion-body myositis: a difficult diagnosis?.
Jornal Brasileiro de Patologia e Medicina Laboratorial (Impresso), v. 50, p. 10-11, 2014.
112.
ZANOTELI, E.; SILVA, H. C. ; Costa, MM . La myologie au Brésil: une implantation déjà ancienne et une dynamique
notable. Les Cahiers de Myologie, v. 11, p. 37-39, 2014.
113.
MARQUES, TANYSE BAHIA CARVALHO ; NEVES, JULIANA DE CARVALHO ; PORTES, LESLIE ANDREWS ; SALGE, JOÃO
MARCOS ; Zanoteli, Edmar ; Reed, Umbertina Conti . *. Jornal Brasileiro de Pneumologia (Impresso)
, v. 40, p. 528534, 2014.
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FERNANDES, G.H. ; ZANOTELI, E. ; SHINJO, S. K. . Statin-associated necrotizing autoimmune myopathy. Modern
Rheumatology (Print)
, p. 00/00, 2013.
Citações:
6
SILVA, L. R. J. ; RASKIN, S. ; COLOVATI, M. E. S. ; COPRERSKI, B. ; ZANOTELI, E. ; ANDRADE, C. E. F. ; OLIVEIRA,
M. M. ; MELARAGNO, M. I. ; PEREZ, A. B. A. . Spinal muscular atrophy due to a -de novo- 1.3Mb deletion: Implication for
genetic counseling. Neuromuscular Disorders
, v. 23, p. 388-390, 2013.
Citações:
1 | 1
Pasqualin LMA ; ZANOTELI, E. ; Albuquerque MAV ; FRIZZO, S. K. ; Resende MBD ; ABUCHAM-NETO, J. Z. ; POLATI,
M. ; Chadi G ; Reed, U.C. . Duchenne muscular dystrophy and Duane's syndrome: a rare association. Arquivos de NeuroPsiquiatria (Impresso)
, v. 71, p. 127-128, 2013.
Citações:
1 | 1
Gurgel-Giannetti, Juliana ; Zanotelli, Edmar ; de Castro Concentino, Eralda Luiza ; Neto, Osorio Abath ; Pesquero, João
Bosco ; Reed, Umbertina Conti ; VAINZOF, Mariz . Necklace fibers as histopathological marker in a patient with severe form
of X-linked myotubular myopathy. Neuromuscular Disorders
, v. 22, p. 000, 2012.
Citações:
14 | 15
Böhm, Johann Biancalana, Valérie DeChene, Elizabeth T. Bitoun, Marc Pierson, Christopher R. Schaefer, Elise Karasoy,
Hatice Dempsey, Melissa A. Klein, Fabrice Dondaine, Nicolas Kretz, Christine Haumesser, Nicolas Poirson, Claire Toussaint,
Anne Greenleaf, Rebecca S. Barger, Melissa A. Mahoney, Lane J. Kang, Peter B. Zanoteli, Edmar Vissing, John Witting,
Nanna Echaniz-Laguna, Andoni Wallgren-Pettersson, Carina Dowling, James Merlini, Luciano , et al. ; Mutation Spectrum
in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy.
Human Mutation
, v. 33, p. n/a-n/a, 2012.
Citações:
94 | 100
Machado, Darlene L ; Silva, Elaine C ; Resende, Maria BD ; Carvalho, Celso RF ; Zanoteli, Edmar ; Reed, Umbertina
C . Lung function monitoring in patients with duchenne muscular dystrophy on steroid therapy. BMC Research Notes
, v.
5, p. 435, 2012.
Citações: 16
Darber, I.A. ; Plaggert, P.G. ; Resende MBD ; ZANOTELI, E. ; Reed, U.C. . Evaluation of muscle strength and motor
abilities in children with type II and III spinal muscle atrophy treated with valproic acid. BMC Neurology
, v. 11, p. 36,
2011.
Citações:
30 | 32
Simon VA ; Resende MBD ; Simon MA ; ZANOTELI, E. ; Reed, U.C. . Duchenne muscular dystrophy: quality of life
among 95 patients evaluated using the Life Satisfaction Index for Adolescents.. Arquivos de Neuro-Psiquiatria (Impresso)
, v. 69, p. 19-22, 2011.
Citações:
17 |
5 | 18
Campos, Y ; Qiu, X ; ZANOTELI, E. ; Moshiach S ; VERGANI, N. ; Bongiovanni A ; Harris A. J. ; DAZZO, A. . Ozz-E3
Ubiquitin Ligase Targets Sarcomeric Embryonic Myosin Heavy Chain during Muscle Development. PLoS One
, v. 5, p.
e9866, 2010.
Citações:
19 | 18
ZANOTELI, E.; VLEKKERT, D. V. ; BONTEN, E. J. ; Hu, H ; MANN, L. ; Gomero, E. ; Harris A. J. ; GHERSI, G. ;
DAZZO, A. . Muscle degeneration in neuramindase 1 deficient mice results from infiltration of the muscle fibers by expanded
connective tissue. Biochimica et Biophysica Acta. Molecular Basis of Disease
, v. 1802, p. 659-672, 2010.
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ZANOTELI, E.; Maximino JR ; REED, U. C. ; Chadi G . Spinal Muscular Atrophy: from animal model to clinical trial.
Functional Neurology (Roma. Testo Stampato)
, v. 25, p. 73-79, 2010.
Citações:
11 | 11
Parreira, Samara Lamounier Santana ; Resende, Maria Bernadete Dutra ; ZANOTELI, E. ; Carvalho, Mary Souza ;
Marie, Suely Kazue ; Reed, Umbertina Conti . Comparison of motor strength and function in patients with Duchenne
muscular dystrophy with or without steroid therapy. Arquivos de Neuro-Psiquiatria (Impresso)
, v. 68, p. 683-688, 2010.
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19 |
15 | 25
ZANOTELI, E.; VERGANI, N. ; Campos, Y ; VAINZOF, Mariz ; OLIVEIRA, A. S. ; DAZZO, A. . Mitochondrial alterations
in dynamin 2-related centronuclear myopathy. Arquivos de Neuro-Psiquiatria (Impresso)
, v. 67, p. 102-104, 2009.
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8 | 10
CUNHA, M. C. B. ; GABBAI, A. A. ; ZANOTELI, E. ; Silva A.C. ; Yanes A ; Zogaib P.S. ; Brandão R ; Rebustini F ; OLIVEIRA,
A. S. B. . Efeitos do esteróide anabolizante (Oxandrolona) e do treinamento aquático em pacientes com Doenças
Neuromusculares. Neurobiologia (Recife. Impresso), v. 72, p. 79-89, 2009.
128.
Zanoteli, Edmar. Severity and functional ability scale foramyotrophic lateral sclerosis patients:preliminar results. Revista de
Neurociências (EPM. Impresso), v. 16, p. 174, 2008.
129.
VUONO, I. M. ; ZANOTELI, E. ; OLIVEIRA, A. S. ; FUJITA, R. R. ; PIGNATARI, S. ; PIZARRO, G. ; PRADELLE-HALLINAN, M.
; MOREIRA, G. . Histological analysis of palatopharyngeal muscle from children with snoring and obstructive sleep apnea
syndrome. International Journal of Pediatric Otorhinolaryngology
, v. 65, p. 56-63, 2006.
130.
131.
132.
133.
Citações: 12
Tosch V ; Rohde HM ; Tronchère H ; ZANOTELI, E. ; Monroy-Munoz N ; KRETZ, C. ; DONDAINE, N. ; Payrastre B ;
MANDEL, J. L. ; LAPORTE, J. . A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear
myopathy. HUMAN MOLECULAR GENETICS
, v. 15, p. 3098-3106, 2006.
Citações:
99 | 112
ROCCO, F. M. ; LUZ, F. H. G. ; ROSSATO, A. J. ; FERNANDES, A. C. ; OLIVEIRA, A. S. ; BETETA, J. T. ; ZANOTELI, E. .
Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina. Arquivos de NeuroPsiquiatria
, v. 63, n.2A, p. 298-306, 2005.
Quotes:
3 |
5 | 3
ZANOTELI, E.; LAPORTE, J. ; ROCHA, J. C. C. ; KRETZ, C. ; OLIVEIRA, A. S. B. ; MANDEL, J. L. ; PEREZ, A. A. B. ; GABBAI,
A. ; BUJ-BELLO, A. . Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. American Journal of
Medical Genetics. Part A
, USA, v. 134, n.3, p. 338-340, 2005.
FREITAS, R. T. L. ; ZANOTELI, E. ; MORITA, M. P. A. ; OLIVEIRA, A. S. B. . Análise da expressão do colágeno VI na distrofia
muscular congênita. Arquivos de Neuro-Psiquiatria
, São Paulo, v. 63, n.2B, p. 514-518, 2005.
134.
Quotes:
3 | 3
ZANOTELI, E.; PEREZ, A. B. A. ; OLIVEIRA, A. S. B. ; GABBAI, A. A. . Biologia molecular nas doenças do neurônio motor..
Revista de Neurociências, Brasil, v. 12, n.1, p. 24-29, 2004.
135.
Quotes: 2
FERRAZ, M. E. M. R. ; ZANOTELI, E. ; OLIVEIRA, A. S. B. ; GABBAI, A. . Atrofia muscular progressiva. Estudo clínico e
laboratorial em 11 pacientes. Arquivos de Neuro-Psiquiatria
, São Paulo, v. 61, n.1, p. 119-126, 2004.
136.
137.
138.
139.
140.
141.
142.
Quotes:
3 |
10 | 3
YAMAMOTO, L U ; GOLLOP, T R ; NACCACHE, N F ; ZANOTELI, E. ; ZATZ, M ; VAINZOF, M . Protein and DNA analysis for
the pre-natal diagnosis of alfa2-laminin-deficient congenital muscular dystrophy.. Diagnostic Molecular Pathology
, USA, v.
13, n.3, p. 167-171, 2004.
Citations:
2 | 4
MOURA, L. S. ; OLIVEIRA, A S B ; ZANOTELI, E. ; CARDOSO, R. ; SCHMIDT, B. ; GABBAI, A. A. . Padronização normal das
fibras nervosas intraepidérmicas em 30 voluntários saudáveis com PGP 9,5. Arquivos de Neuro-Psiquiatria
, São Paulo, v.
62, n.2, p. 271-275, 2004.
Quotes:
6 | 7
ZANOTELI, E.; LOTUFFO, R. M. ; OLIVEIRA, A S B ; BEGGS, A. H. ; CANOVAS, M. ; ZATZ, Mayana ; VAINZOF, Mariz .
Deficiency of muscle alfa-actinin-3 is compatible with high muscle performance. Journal of Molecular Neuroscience
, USA,
v. 20, n.1, p. 39-42, 2003.
Quotes:
10 | 12
GURGELGIANNETTI, J. ; REED, U. C. ; ZANOTELI, E. ; FIREMAN, M. A. T. ; OLIVEIRA, A S B ; BEGGS, A. H. ; WERNECK, L.
C. ; MARIE, S. K. ; ZATZ, Mayana ; VAINZOF, Mariz . Rod distribution and muscle fibers type modification in the progression
of nemaline myopathy. Journal of Child Neurology
, USA, v. 18, n.3, p. 235-240, 2003.
Quotes:
10 | 11
ROSO, V. ; BITU, S. O. B. ; ZANOTELI, E. ; BETETA, J. T. ; CASTRO, R. C. ; FERNANDES, A. C. . Tratamento cirúrgico da
escolise na amiotrofia espinhal progressiva. Arquivos de Neuro-Psiquiatria
, Brasil, v. 61, n.3-A, p. 631-638, 2003.
Quotes:
6 | 9
ZANOTELI, E.; ROCHA, J. C. C. ; NARUMIA, L. K. ; FIREMAN, M. A. T. ; MOURA, L. S. ; OLIVEIRA, A. S. B. ; GABBAI, A. A. ;
FUKUDA, Y. ; KINOSHITA, M. ; TODA, T. . Fukuyama-type congenital muscular dystrophy (FCMD). A case report in the
Japonese population living in Brazil.. Acta Neurologica Scandinavica
, Denmark, v. 106, n.2, p. 117-121, 2002.
Quotes:
2 | two
ZANOTELI, E.; YAMASHITA, H. K. ; SUZUKI, H. ; OLIVEIRA, A. S. B. ; GABBAI, A. A. . Temporomandibular joint and
masticatory muscle involvement in myotonic dystrophy: A study by magnetic resonance imaging. Oral Surgery, Oral
Medicine, Oral Pathology, Oral Radiology and Endodontics
, USA, v. 94, n.2, p. 262-271, 2002.
Citations:
28 |
30
143.
144.
145.
146.
147.
148.
149.
150.
151.
152.
153.
154.
155.
VAINZOF, Mariz ; MOREIRA, E. S. ; SUZUKI, O. T. ; FAULKNER, G. ; VALLE, G. ; BEGGS, A. ; CARPEN, O. ; RIBEIRO, A. F. ;
ZANOTELI, E. ; GURGELGIANNETI, J. ; TSANACLIS, A. M. ; SILVA, H. C. ; PASSOSBUENO, M. R. ; ZATZ, Mayana .
Telethonin protein expression in neuromuscular disorders. Biochimica et Biophysica Acta. Protein Structure and Molecular
Enzymology
, Netherlands, v. 1588, n.1, p. 30, 2002.
Citations: 34
GURGELGIANNETTI, J. ; REED, U. C. ; ZATZ, Mayana ; ZANOTELI, E. ; WALGRENPETTERSSON, C. ; LABEIT, S. ; BANG, M.
; PELIN, K. ; OLIVEIRA, A. S. ; DONNER, K. ; MARIE, S. K. ; CARVALHO, M. ; FIREMAN, M. A. T. ; VAINZOF, Mariz . Nebulin
expression in patients with nemaline myopathy. Neuromuscular Disorders
, UK, v. 11, n.2, p. 154-162, 2001.
Citations:
33 | 36
CHIAPPETA, A. L. M. ; ODA, A. L. ; ZANOTELI, E. ; GUILHERME, A. ; OLIVEIRA, A S B . Disfagia orofaríngea na distrofia
miotônica: avaliação fonoaudiológica e análise nasofribrolaringoscópica.. Arquivos de Neuro-Psiquiatria
, Brasil, v. 59, n.2
(B), p. 394-400, 2001.
Quotes:
6 |
18 | 9
ZANOTELI, E.; GUIMARÃES, A. S. ; MARTINS, R. J. ; YAMASHITA, H. K. ; TOLEDO, C. S. ; OLIVEIRA, A. S. ; GABBAI, A. A.
. Temporomandibular joint involvement in a patient with centronuclear myopathy.. Oral Surgery, Oral Medicine, Oral
Pathology, Oral Radiology, and Endodontics
, USA, v. 90, p. 118-121, 2000.
Quotes:
7 | 8
ZANOTELI, E.; OLIVEIRA, A. S. ; SCHMIDT, B. ; GABBAI, A. A. . Centronuclear myopathy: clinical aspects of ten Brazilian
patients with childhood onset. JOURNAL OF THE NEUROLOGICAL SCIENCES
, USA, v. 158, p. 76-82, 1998.
Citations:
15 | 20
ZANOTELI, E.; OLIVEIRA, A. S. ; KYOMOTO, B. H. ; SCHIMIDT, B. ; GABBAI, A. A. . Centronuclear myopathy:
histopathological aspects in ten patients with childhood onset. Arquivos de Neuro-Psiquiatria
, Brasil, v. 56, n.1, p. 1-8,
1998.
SILVA, D. F. ; ZANOTELI, E. ; LIMA, M. M. ; ANGHINAH, R. ; LIMA, J. G. C. . Subclinical rhythmic electrographic discharge
in adults: an atypical evolution. Arquivos de Neuro-Psiquiatria
, Brasil, v. 53, n.2, p. 266-269, 1995.
Quotes:
5 | 6
SILVA, D. F. ; ZANOTELI, E. ; LIMA, M. M. ; ANGUINATH, R. ; LIMA, J. G. C. . Complex partial status epilepticus in a child.
Arquivos de Neuro-Psiquiatria
, Brasil, v. 53, n.2, p. 274-277, 1995.
SILVA, D. F. ; LIMA, M. M. ; ANGHINATH, R. ; ZANOTELI, E. ; LIMA, J. G. C. . Atypical EEG pattern in children with absence
seizures. Arquivos de Neuro-Psiquiatria
, Brasil, v. 53, n.2, p. 258-261, 1995.
Quotes:
5 | 5
SILVA, D. F. ; LIMA, M. M. ; ANGHINATH, R. ; ZANOTELI, E. ; LIMA, J. G. C. . Dipole reversal. An ictal feature in a patient
with benign partial epilepsy of childhood with centrotemporal spike. Arquivos de Neuro-Psiquiatria
, Brasil, v. 53, n.2, p.
270-273, 1995.
Quotes:
5 |
4 | 7
SILVA, D. F. ; LIMA, M. M. ; KANDA, P. M. ; ANGHINATH, R. ; ZANOTELI, E. ; LIMA, J. G. C. . Atypical pattern related to 14
Hz positive spikes. Arquivos de Neuro-Psiquiatria
, Brasil, v. 53, n.2, p. 262-265, 1995.
Quotes: 1
SILVA, D. F. ; LIMA, M. M. ; ANGHINATH, R. ; ZANOTELI, E. ; LIMA, J. G. C. . Atypical clinical and electroencephalographic
pattern in a patient with subacute sclerosing panencephalitis. Arquivos de Neuro-Psiquiatria
, Brasil, v. 53, n.2, p. 278280, 1995.
Citations:
11 |
4 | 11
SILVA, DF ; LIMA, MM; GONÇALVES, LVAT; LOPEZ, OJLR; ANGHINAH, R .; ZANOTELI, E. ; LIMA, JGC. Epilepsy with
continuous spike-waves during slow wave sleep: a clinical and electroencephalographic study. Archives of Neuro-Psychiatry
, Brazil, v. 53, n.2, p. 252-257, 1995.
156.
Quotes:
1
ZANOTELI, E. ; OLIVEIRA, AS ; TENGAN, CH ; MORITA, MPA ; SCHIMIDT, B. ; GABBAI, AA . Distal renal tubular acidosis
manifesting with rhabdomyolysis. Archives of Neuro-Psychiatry
, Brazil, v. 52, n.4, p. 549-553, 1994.
157.
Quotes: 1
OSMAR, CJ; ZANOTELI, E. ; FUKUJIMA, MM ; OLIVEIRA, R.M.C. Investigation and treatment of syncope. Journal of
Neurosciences , Brazil, v. 2, n.2, p. 64-70, 1994.
1.
two.
3.
4.
5.
6.
Published book chapters
ZANOTELI, E. Diagnosis and treatment of the main muscular diseases. In: Ricardo Nitrini; Luiz HM Castro; Gabriel T
Kubota; Ida Fortini; Marcelo Calderaro; Marcia RR Gonçalves; Monica S Haddad; Tarsus Odoni. (Org.). Conduct in Neurology.
13ed.Barueri: Manole, 2020, v. , P. 224-238.
SILVA, AMS ; ZANOTELI, E. . Hereditary myopathies. In: Thiago Cardoso Vale; José Luiz Pedroso; Orlando Graziani Povoas
Barsottini. (Org.). Neurology Pocket Guide. 1st edition.Rio de Janeiro: Atheneu, 2019, v. 1, p. 423-438.
SILVA, AMS ; ZANOTELI, E. . Acquired myopathies. In: Thiago Cardoso Vale; José Luiz Pedroso; Orlando Graziani Povoas
Barsottini. (Org.). Neurology Pocket Guide. 1st edition.Rio de Janeiro: Atheneu, 2019, v. 1, p. 439-452.
ZANOTELI, E ; Reed, UC . Myopathies. In: Chong Ae Kim; Lilian MJ Albano; Débora R Bertola. (Org.). Genetics in pediatric
practice. 2ed.Barueri: Manole, 2019, v. , P. 457-466.
Reed, UC ; ZANOTELI, E. Infantile spinal amyotrophy. In: Chong Ae Kim; Lilian MJ Albano; Débora R Bertola. (Org.).
Genetics in pediatric practice. 2ed.Barueri: Manole, 2019, v. , P. 467-485.
Fonseca, ATQSM; ZANOTELI, E. ; REED, UC. Neuromuscular Diseases. In: Marcelo Masruha Rodrigues; Luiz Celso Pereira
Vilanova. (Org.). Textbook of Child Neurology. 1st edition.Rio de Janeiro: Atheneu, 2017, v. 1, p. 991-1038.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
22.
23.
24.
25.
26.
27.
28.
Zanoteli, Edmar ; OLIVEIRA, ASB . Myopathies. In: Bertolucci PHF; Ferraz HB; Barsottini OGP; Pedroso JL. (Org.).
Neurology. 2ed.Barueri: Manole, 2016, v. , P. 905-930.
Zanoteli, Edmar . Update on neuromuscular diseases: inclusion body myositis. In: Nitrini R; Fortini I; Castro LHM;
Calderaro M; Simabukuro MM; Haddad MS; Adoni T. (Org.). Conduct in neurology. 11ed.Barueri: Manole, 2016, v. , P. 113124.
ROCCO, FM; Mantovani CS; Zuccon A; Mota, VL; Zanoteli, Edmar . Neuromuscular diseases. In: Fernandes AC; RAmos
ACR; Morais Filho MC; Ares MJJ. (Org.). Rehabilitation. 2ed.Barueri: Manole, 2015, v. 1, p. 137-160.
Zanoteli, Edmar ; de Souza GEL. Myopathies and myasthenia. In: Nitrini R; Bacheschi LA. (Org.). Neurology that every
doctor should know. 3rd edition.São Paulo: Atheneu, 2015, v. , P. 389-400.
Martins CA; FIREMAN, MAT ; ZANOTELI, E. Adult myopathies. In: Acary Souza Bulle Oliveira; Adriana Leico Oda. (Org.).
Rehabilitation in Neuromuscular Diseases. Practical therapeutic guide. 1st edition.São Paulo: Atheneu, 2014, v. , P. 113-124.
ZANOTELI, E. . The neurologist and Neuromuscular Diseases. In: Marco Orsini. (Org.). Rehabilitation in Neuromuscular
Diseases. Interdisciplinary approach. 1st edition.Rio de Janeiro: Guanabara Koogan, 2012, v. , P. 284-289.
ZANOTELI, E. . Progressive spinal muscular atrophy types II and III. In: Chaves ACX; Conceição ECG; Cunha MCB; Silva
TM. (Org.). Neuromuscular diseases - Physiotherapy practice - Theoretical and practical guide. 1st edition.São Paulo: Roca,
2012, v. 1, p. 121-131.
ROCCO, FM; ZANOTELI, E. . Duchenne muscular dystrophy and Becker muscular dystrophy. In: Chaves ACX; Conceição
ECG; Cunha MCB; Silva TM. (Org.). Neuromuscular Diseases - Physiotherapy Practice - Theoretical and practical guide. 1st
edition.São Paulo: Roca, 2012, v. 1, p. 321-329.
ZANOTELI, E. . Hereditary ataxias. In: Chaves ACX; Conceição ECG; Cunha MCB; Silva TM. (Org.). Neuromuscular Diseases
- Physiotherapy Practice - Theoretical and practical guide. 1st edition.São Paulo: Roca, 2012, v. 1, p. 449-458.
REED, UC ; ZANOTELI, E. . Neuromuscular diseases. In: Montenegro MA; Baccin CE. (Org.). Illustrated neuropediatrics.
Clinical-radiological images. Rio de Janeiro: Revinter, 2010, v. , P. 120-145.
ZANOTELI, E. . What we need to know about neuromuscular diseases. In: Marilena do Nascimento. (Org.). Music therapy
and rehabilitation of neurological patients. 1st edition.São Paulo: Memnon, 2009, v. 1, p. 153-165.
ZANOTELI, E. ; CUNHA, MCB ; BETETA, JT. Myopathies. In: Júlia Maria D'Andréa Greve. (Org.). Treatise on Rehabilitation
Medicine. 2nd edition.Sao Paulo: Roca, 2007, v. 1, p. 835-846.
ZANOTELI, E. . Hereditary Ataxias. In: Júlia Maria D'Andréa Greve. (Org.). Treatise on Rehabilitation Medicine. 2nd
edition.Sao Paulo: Roca, 2007, v. 1, p. 832-834.
ZANOTELI, E.; CUNHA, M. C. B. ; BETETA, J. T. . Reabilitacao nas Doencas Neuromusculares. In: Júlia Maria D'Andréa
Greve. (Org.). Tratado de Medicina de Reabilitação. 2ed.Sao Paulo: Roca, 2007, v. 1, p. 848-852.
ZANOTELI, E.; Mantovani CS ; Mota, VL ; BETETA, J. T. ; ROSSATO, A. J. . Doenças neuromusculares. AACD - Medicina e
Reabilitação - Princípios e Prática. 1ed.São Paulo: Artes Médicas, 2007, v. , p. 115-140.
OLIVEIRA, A. S. B. ; ZANOTELI, E. ; GABBAI, A. A. . Doenças Neuromusculares. In: Cintra do Prado; Jairo Ramos; J.
Ribeiro do Valle. (Org.). Atualização Terapêutica. 23ed.São Paulo: Artes Medicas, 2007, v. , p. 1023-1033.
ZANOTELI, E.; OLIVEIRA, A S B . Doenças Neuromusculares. In: Rose Ortiz. (Org.). Distúrbios neurológicos adquiridos.
1ed.São Paulo: Roca, 2006, v. 2, p. -.
OLIVEIRA, A. S. B. ; ZANOTELI, E. ; GABBAI, A. A. . Doencas Neuromusculares. In: F. Cintra do Prado; Jairo Ramos; J.
Ribeiro do Valle. (Org.). Atualizacao Terapeutica. 22ed.Sao Paulo: Artes Medicas, 2005, v. , p. 975-984.
ZANOTELI, E.; NARUMIA, L. C. . Aspéctos clínicos e abordagem fisioterapêutica. In: Moura E W; Silva P A C S. (Org.).
Aspéctos clínicos e práticos da reabilitação. 1ed.São Paulo: Artes Médicas, 2005, v. , p. 221-246.
ZANOTELI, E.; BETETA, J. T. . Doenças neuromusculares. In: Erika Teixeira; Françoise N Sauron; Lina S B Santos; Maria C
de Oliveira. (Org.). Terapia ocupacional na reabilitação física. São Paulo: Roca, 2003, v. 1, p. 29-40.
ZANOTELI, E.; BETETA, J. T. . Doenças Neuromusculares. In: Angela Maria Costa de Souza. (Org.). A criança especial.
Temas médicos, educativos e sociais. 1ed.São Paulo: Roca, 2003, v. , p. 159-172.
ZANOTELI, E.; FUKUJINMA, M. M. ; CARDEAL, J. O. . Síncope. In: A FRISOLI. (Org.). Emergências: manual de diagnóstico
e tratamento. 1ed.São Paulo: Sarvier, 1994, v. , p. 378-380.
Textos em jornais de notícias/revistas
1.
ZANOTELI, E. Atrofia muscular espinhal. ABNews. Boletim bimestral da Academia Brasileira de Neurologia, São Paulo, p. 6 8, 01 fev. 2020.
1.
ZANOTELI, E.. Classificação das Distrofias Musculares. In: XIX Congresso Brasileiro de Neurologia, 2000, Salvador. Arquivos
de Neuropsiquiatria, 2000. v. 58.
ZANOTELI, E.. Tratamento das Distrofias Musculares. In: XIX Congresso Brasileiro de Neurologia, 2000, Salvador. Arquivos
de Neuropsiquiatria, 2000. v. 58.
2.
1.
two.
3.
Trabalhos completos publicados em anais de congressos
Resumos publicados em anais de congressos
SILVA, AMS ; COIMBRA-NETO, A. ; WINCKLER, P.; SOUZA, P.; SAUTE, J. ; FRANCA JR, M.; ZANOTELI, E. Characterization
of clinical and molecular findings in a large Brazilian Cohort of ANO5 myopathy. In: Muscle Study Group Meeting, 2019,
Snowbird. Muscle Nerve. London: Wiley, 2019. v. 60. p. S2.
SILVA, AMS ; Mendonça, RH; Camelo, CG; ESTEPHAN, EP ; MORENO, CMA; CARVALHO, M. ; NASCIMENTO, A.; Kulikowski,
L.D.; DIAS, A.; OLIVEIRA, ASB ; Reed, UC ; ZANOTELI, E. Clinical and molecular spectrum of myofibrillar myopathy in a
Brazilian cohort. In: Muscle Study Group Meeting, 2019, Snowbird. Muscle Nerve. London: Wisley, 2019. v. 60. p. S17.
SOUZA, L.; ALMEIDA, C. ; SILVA, L.; PAVANELLO, R.; ZANOTELI, E ; GURGEL-GIANNETTI, J. ; ZATZ, M ; OTTO, O.;
VAINZOF, M. High frequency of manifesting carriers in the recessive X-linked myotubular myopathy (P.141). In: 23rd
International Congress of the World Muscle Society, 2018, Mendoza. Neuromuscular Disorders. London: Elsevier, 2018. v. 28.
p. S72.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
22.
23.
24.
25.
SILVA, AMS ; VIANNA, M. ; ESTEVES, H.; COMELLO, F. ; ZANOTELI, E. . Myositis and fasciitis due to disseminated
histoplasmosis (P.163). In: 23rd International Congress of the World Muscle Society, 2018, Mendoza. Neuromuscular
Disorders. London: Elesevier, 2018. v. 28. p. S77.
SILVA, AMS ; VIANNA, M. ; MENDONCA, RH; ZANOTELI, E. Brachio-cervical inflammatory myopathy with lymphoid folliclelike structures in a patient with scleroderma (P.156). In: 23rd International Congress of the World Muscle Society, 2018,
Mendoza. Neuromuscular Disorders. London: Elsevier, 2018. v. 2018. p. S76.
Mendonça, RH; SILVA, AMS ; VELASCO, O.; CARDEAL, D.; Reed, UC ; ZANOTELI, E. Lumbar catheter for nusinersen
administration in a SMA 2 patient with spinal deformities and previous surgery (P.174). In: 23rd International Congress of
the World Muscle Society, 2018, Mendoza. Neuromuscular Disorders. London: Elsevier, 2018. v. 28. p. S81.
MORENO, CMA; ESTEPHAN, EP ; ABATH-NETO, OL; Camelo, CG; Reed, UC ; BONNEMANN, C. ; ZANOTELI, E. Recessive
congenital fiber type disproportion caused by TPM3 mutation. In: 23rd International Congress of the World Muscle Society,
2018, Mendoza. Neuromuscular Disorders. London: Elsevier, 2018. v. 28. p. S103.
SILVA, AMS ; Mendonça, RH; SOUZA, D.; CALLEGARO, D.; CALDAS, VM; CARVALHO, M. ; ZANOTELI, E. A curable
myopathy manifesting as exercise intolerance and respiratory failure (P.277). In: 23rd International Congress of the World
Muscle Society, 2018, Mendoza. Neuromuscular Disorders. London: Elsevier, 2018. v. 28. p. S115.
VOSS, M.; ALMEIDA, D.; SILVA, AMS ; SANTOS, P.; Reed, UC ; ZANOTELI, E. The development of a Brazilian Portuguese
version of the activity limitations scale (ACTIVLIM) (P.283). In: 23rd International Congress of the World Muscle Society,
2018, Mendoza. Neuromuscular Disorders. London: Elsevier, 2018. v. 28. p. S116.
PEDROSA, A.; LINDEN, VVD; IWABE, C. ; VOSS, M.; ZANOTELI, E ; TEIXEIRA, J.; ARAUJO, E. ; Reed, UC . Validation of the
Brazilian Portuguese version of the motor function measure - short form (MFM-20) for neuromuscular diseases in children
from two to seven years old (P.285). In: 23rd International Congress of the World Muscle Society, 2018, Mendoza.
Neuromuscular Disorders. London: Elsevier, 2018. v. 28. p. S117.
ESTEPHAN, EP ; SAMPAIO, P.; SOUZA, F.; ROCHA, M.; ZANOTELI, E ; MARQUES-JR, W. . Case report: CMT2D with
intermediate pattern, an expanding phenotype (P.341). In: 23rd International Congress of the World Muscle Society, 2018,
Mendoza. Neuromuscular Disorders. London: Elsevier, 2018. v. 28. p. S133.
Camelo, CG; SILVA, AMS ; Reed, UC ; BONNEMANN, C. ; ZANOTELI, E. Hypercontractile congenital muscle stiffness (P.48).
In: 23rd International Congress of the World Muscle Society, 2018, Mendoza. Neuromuscular Disorders. London: Elsevier,
2018. v. 28. p. S45.
ESTEPHAN, EP ; ZAMBON, A.; MARCHIORI, P. ; SILVA, AMS ; MORENO, CMA; Reed, UC ; TOPF, A.; LUCHMULLER, H. ;
ZANOTELI, E. The p.N88K mutation in the RAPSN gene in Brazilian patients with congenital myasthenic syndrome (P.68).
In: 23rd International Congress of the World Muscle Society, 2018, Mendoza. Neuromuscular Disorders. London: Elsevier,
2018. p. S50.
Polido, G.J.; MIRANDA, M.; CAVAS JR, N.; CARAMANO, F. ; Reed, UC ; ZANOTELI, E ; VOSS, M. . Cognitive performance of
children with 5q-spinal muscular atrophy: a systematic review (P.85). In: 23rd International Congress of the World Muscle
Society, 2018, Mendoza. Neuromuscular Disorders. London: Elsevier, 2018. v. 28. p. S55.
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KAUP, A. O. ; ZANOTELI, E. ; FIREMAN, M. A. ; OLIVEIRA, A. S. ; SCHMIDT, B. ; GABBAI, A. A. . Miopatia centronuclear de
início na vida adulta. Relato de 1 caso.. In: XVIII Congresso brasileiro de Neurologia, 1998, São Paulo. Arquivos de
Neuropsiquiatria, 1998. v. 56. p. 68.
FIREMAN, M. A. ; OLIVEIRA, A. S. ; VILELA, S. ; LOTUFFO, R. ; ZANOTELI, E. ; LEE, D. M. ; SZEJNFELD, J. . Lesão
músculo-esquelética em maratonistas: estudo por ressonância magnética.. In: XVIII Congesso brasileiro de Neurologia,
1998, São Paulo. Arquivos de Neuropsiquiatria, 1998. v. 56. p. 126.
CAMPOS, J. A. S. ; ZANOTELI, E. ; SANNI, R. S. ; OLIVEIRA, A. S. ; FIREMAN, M. A. ; SCHMIDT, B. ; GABBAI, A. A. .
Triquinose mimetizando dermatomiosite: relato de caso.. In: XVIII Congresso Brasileiro de Neurologia, 1998, São Paulo.
Arquivos de Neuropsiquaitria, 1998. v. 56. p. 124.
ZANOTELI, E.; GUIMARÃES, A. S. ; MARTINS, R. J. ; YAMASHITA, H. K. ; OLIVEIRA, A S B ; GABBAI, A. A. . Envolvimento
da musculatura mastigatória e da articulação temporomandibular na distrofia miotônica de Steinert. Estudo por ressonância
magnética.. In: XXVI Congresso Brasileiro de Radiologia, 1997, São Paulo, 1997.
ZANOTELI, E. ; OLIVEIRA, AS ; ROSA, IP ; SCHMIDT, B .; GABBAI, AA . Centronuclear myopathy (MCN): general clinical
and laboratory aspects. In: XVII Brazilian Congress of Neurology, 1996, Curitiba. Archives of Neuropsychiatry, 1996. v. 54. p.
O-360.
ZANOTELI, E. ; OLIVEIRA, AS ; KIYOMOTO, BH; GABBAI, AA . Centronuclear myopathy (MCN): histopathological aspects..
In: XVII Brazilian Congress of Neurology, 1996, Curitiba. Archives of Neuropsychiatry, 1996. v. 54. p. O-361.
ZANOTELI, E. ; HORIE, MY; OLIVEIRA, AS ; CRUZ, M.; GABBAI, AA . Carpal tunnel syndrome in children associated with
mucopolysaccharidosis. In: XVI Brazilian Congress of Neurology, 1994, Fortaleza. Archives of Neuropsychiatry, 1994. v. 52. p.
O-152.
ZANOTELI, E. ; HORIE, MY ; FREIRE, R.; OLIVEIRA, AS ; SCHMIDT, B .; GABBAI, AA . Schwartz-Jampel syndrome: clinical,
genetic and muscle histochemical study. Case report.. In: XVI Brazilian Congress of Neurology, 1994, Fortaleza. Archives of
Neuropsychiatry, 1994. v. 52. p. O-237.
FERRAZ, MEMR; ZANOTELI, E. ; REIS, AF ; STÁVALLE, JN ; GABBAI, AA ; OLIVEIRA, ASB . Progressive multifocal
leukoencephalopathy associated with HIV infection: report of 1 case with atypical clinical and radiological findings.. In: XVI
Brazilian Congress of Neurology, 1994, Fortaleza. Archives of Neuropsychiatry, 1994. v. 52. p. O-181.
BARSOTTINI, OGP; ZANOTELI, E. ; REIS, AF ; HORIE, MY; OLIVEIRA, ASB ; DIB, SA; GABBAI, AA . Wolfran syndrome:
neurological aspects.. In: XVI Brazilian Congress of Neurology, 1994, Fortaleza. Archives of Neuropsychiatry, 1994. v. 52. p.
O-153.
GEPP, RA ; ALBERTOTTI, D.; HORIE, MY ; KAUFFMAN, MY; OLIVEIRA, ASB ; ZANOTELI, E. . Schwartz-Jampel myotonic
chondrodystrophy: how to proceed in the diagnosis.. In: VI São Paulo Congress of Pediatrics, 1994, São Paulo, 1994.
ZANOTELI, E. ; SCHIIMIDT, B. ; MORITA, MPA ; OLIVEIRA, ASB ; GABBAI, AA . Distal renal tubular acidosis manifesting
with rhabdomyolysis. In: IX Brazilian Journal of Neuromuscular Diseases, 1993, São José do Rio Preto, 1993.
COELHO, CMF; ZANOTELI, E. ; ANGUINAH, R.; NOSRALLA, MON ; SILVA, DF ; LIMA, JGC. Status of complex partial seizure
in children.. In: XIII Brazilian Congress of Clinical Neurophysiology, 1993, Belo Horizonte, 1993.
ANGUINAH, R.; COTA, SA; COELHO, CMF; ZANOTELI, E. ; SILVA, DF ; LIMA, JGC. Subclinical rhythmic electrographic
discharge: report of 1 case. In: XII Brazilian Congress of Clinical Neurophysiology, 1993, Belo Horizonte, 1993.
Work Presentations
MASSON, R.; BARANELLO, G. ; DARRAS, B.; DAY, J. ; Deconinck N; MAZURKIEWICZ-BELDZINSKA, M. ; MERCURI, E. ; ROSE,
K.; XIONG, H. ; VLODAVETS, D.; ZANOTELI, E ; EL-KHAIRI, M.; FUERST-RECKTENWALD, S. ; GERBER, M.; GORNI, K.;
KLETZL, H.; SCALCO, R.; SERVAIS, L. . P15. Firefish: safety, survival and motor function in infants with type 1 spinal
muscular atrophy (SMA) receiving ridisplam (RG7916). 2020. (Work/Congress Presentation).
ZANOTELI, E. Congenital Muscle Diseases. 2015. (Work/Conference Presentation or lecture).
ZANOTELI, E. Limb-girdle muscular dystrophies. 2015. (Work/Conference Presentation or lecture).
ZANOTELI, E. Structure and function of the skeletal muscle tissue. 2015. (Work/Conference Presentation or lecture).
Rizzato, V.R .; Fappi, A .; XavierGO; Godoy, T.S.; BONTEN, E. ; VLEKKERT, DV; Chadi G ; d'Azzo A; ZANOTELI, E. . The role
of neuraminidase 1 in skeletal muscle atrophy. 2011. (Work/Congress Presentation).
Capato, TTC; Carra, R; Azambuja, M; ZANOTELI, E. ; Haddad, MS; Chadi G ; Barbosa, ER. Proposal for a physiotherapy
program to improve gait, balance and functional independence in Huntington's disease. Pilot study. 2011. (Work
Presentation/Symposium).
1.
Other bibliographic productions
PEREZ, ABA ; Zanoteli, Edmar ; Marrone CD; Rotta F; Simões R. Spinal Amyotrophy: Diagnosis and Genetic Counseling.
São Paulo: Brazilian Medical Association and Federal Council of Medicine, 2011 (Guidelines Project: Brazilian Medical
Association and Federal Council of Medicine).
other types of technical production
1.
two.
3.
4.
ARAUJO, A. ; BOMFIM, D.; GIULIANI, A.; LORIATO, D. ; ZANOTELI, E ; BRAGA, F.; POLIDO, G.; GODOI, J. ; SGOBBI, P.;
ALVES, R.; TREVELLIN, R.; FAGUNDES, S. ; OLIVEIRA, S. ; TAVARES, V. . Discussion guide on spinal muscular atrophy (SMA)
in Brazil. working today to change tomorrow.. 2019. (Development of teaching or instructional material - Publicity material).
Zanoteli, Edmar . Problem analysis. Genomics. 2011. (Class taught).
ZANOTELI, E. . Molecular mechanisms of muscle atrophy and hypertrophy. 2009. (Class taught).
ZANOTELI, E. . Neurological problem, genomic aspects. 2009. (Class taught).
Newsstands
Participation in final work panels
1.
two.
3.
4.
5.
6.
7.
8.
1.
2.
3.
4.
5.
6.
7.
Master's degree
ZANOTELI, E ; Maximino JR ; Silva HCA. Participation in panel by Juliana de Carvalho Neves. Involvement of neuraminidase
1 in muscle regeneration. 2014. Dissertation (Master’s in Medicine (Neurology)) – University of São Paulo.
Zanoteli, Edmar ; VAINZOF, Mariz ; Kfoury, JR Participation in Vanessa Ferreira Lopes' panel. Functional characterization of
different strains of murine models for muscular dystrophies. 2011. Dissertation (Master’s in Biotechnology) – University of
São Paulo.
REED, UC ; MJM Days; ZANOTELI, E. . Participation in panel by Illora Aswinkumar Darbar. Assessment of muscular strength
and motor ability in children with progressive spinal amyotrophy types II and III medicated with valproic acid. 2009.
Dissertation (Master’s in Medicine (Neurology)) – University of São Paulo.
ZANOTELI, E. ; Nucci A; REED, UC . Participation in a panel by Marília Della Côrte Peduto. Impairment of the strength and
functionality of the upper limbs in patients with Duchenne muscular dystrophy undergoing corticosteroid therapy. 2008.
Dissertation (Master’s in Medicine (Neurology)) – University of São Paulo.
ZANOTELI, E. ; Resende MBD ; MJM Days. Participation on the panel by Erika Christina Gouveia da Conceição.
Observational analysis of motor acquisitions in children with Spinal Amyotrophy Type I undergoing drug intervention with
valproic acid. 2008. Dissertation (Master’s in Medicine (Neurology)) – University of São Paulo.
ZANOTELI, E. ; SOBREIRA, CFR; KOK, F.. Participation in the panel of Conceição Campanário da Silva Pereira. Duchenne
muscular dystrophy: immunoexpression of alpha-dystroglycan in skeletal muscles and association with cognitive
performance. 2004. Dissertation (Master’s in Neurology / Neurosciences) – Federal University of São Paulo.
ZANOTELI, E. ; VIZZOTTO, Marília M; OLIVEIRA, Vera M B. Participation in Alan Demanboro's panel. Physiotherapy with
playful strategies: a proposal for psychomotor rehabilitation of children with cerebral palsy. 2003. Dissertation (Master’s in
Health Psychology) – Methodist University of São Paulo.
COSTA, C. S.; ZANOTELI, E.; SOARES NETTO, L. E.; VAINZOF, Mariz. Participação em banca de Cleber da Silva Costa.
Estudo da expressão do gene GDF-8 em tecido muscular de camundongos distróficos mdx e nas distrofias Xp21 humanas.
2002. Dissertação (Mestrado em Ciências Biológicas (Biologia Genética)) - Universidade de São Paulo.
Teses de doutorado
VAINZOF, Mariz; FERRARI, M. F. R.; Marques MJ; Zanotelli, Edmar. Participação em banca de Camila de Freitas Almeida.
Regeneração muscular na miopatia centronuclear associada a mutação no gene DNM2. 2019. Tese (Doutorado em Ciências
Biológicas (Biologia Genética)) - Universidade de São Paulo.
ZANOTELI, E.; VOSS, M.. Participação em banca de Mariana Cunha Artilheiro. Avaliação da função do membro superior em
pacientes com distrofia muscular de Duchenne. 2019. Tese (Doutorado em Ciências da Reabilitação) - Universidade de São
Paulo.
ZANOTELI, E.; Silva HCA; MORELLI, C. V. M.; ROGERIO, F.; FRANÇA-JUNIOR, MARCONDES C.. Participação em banca de
Helen Maia Tavares de Andrade. Genética e esclerose lateral amiotrófica: estudo de microRNAs e do gene ATXN2. 2018.
Tese (Doutorado em Ciências Médicas) - Universidade Estadual de Campinas.
ZANOTELI, E.. Participação em banca de Juliana de Carvalho Neves. Regulação de receptores de IGF e PDGF na
musculatura esquelética de camundongos com deficiência de neuraminidase 1. 2018. Tese (Doutorado em Medicina
(Neurologia)) - Universidade de São Paulo.
ZANOTELI, E.; CRONEMBERGER, M. F.; DEBERT, I.; Allemann N; GOLDCHMIT, M.. Participação em banca de Luisa Moreira
Hopker. Efeito da bupivacaína na musculatura ocular extrinseca:achados histológicos em coelhos. 2018. Tese (Doutorado em
Medicina (Oftalmologia)) - Universidade Federal de São Paulo.
ZANOTELI, E.. Participação em banca de Alan Fappi. Efeitos de diferentes glicocorticoides sobre as vias moleculares de
regulaão do trofismo muscular em ratos e o efeito do EPA/DHA na atrofia muscular induzida pela dexametasona. 2018. Tese
(Doutorado em Medicina (Neurologia)) - Universidade de São Paulo.
ZANOTELI, E; Marques MJ; Oliveira EM; Nunes MT; Moriscot AS. Participação em banca de Gracielle Vieira Ramos. Efeito do
hormônio tireoidiano (T3) sobre a expressão da E3 ligase MDM2 e suas implicações na regulação do trofismo muscular.
2014. Tese (Doutorado em Biologia Celular e Molecular) - Universidade de São Paulo.
8.
Fantoni DT; Galas FRBG; Otsuki DA; Zanoteli, Edmar; Ambrósio AM. Participação em banca de Fabrício de Oliveira Frazilio.
Avaliação dos precursores da apoptose neuronal em preparados citosólicos, mitocondriais e nucleares do córtex cerebral
frontal e hipocampo de porcos submetidos à hemodiluição normovolêmica aguda. 2012. Tese (Doutorado em Doutorado em
Ciências) - Universidade de São Paulo.
ZANOTELI, E.; Visconti, M.A.; Maximino JR; Chadi, D.R.F.; Ferreira, Z.F.S.. Participação em banca de Andreas Betz.
Neuroproteção dopaminérgica pela associação de exercício físico espontâneo e tratamento crônico com nicotina no modelo
da doença de Parkinson em ratos - indicativos dos mecanismos envolvidos. 2011. Tese (Doutorado em Fisiologia) Universidade de São Paulo.
ZANOTELI, E.; OLIVEIRA, A. S. B.; NUCCI, A. M.; REZENDE, A. L.; MELLO, M. T.. Participação em banca de Márcia Cristina
Bauer Cunha. Efeitos da oxandrolona (esteróide anabólico androgênico) e dos exercícios aquáticos no tratamento de
pacientes com doenças neuromusculares. 2004. Tese (Doutorado em Neurologia / Neurociências) - Universidade Federal de
São Paulo.
9.
10.
Qualificações de Doutorado
1.
ZANOTELI, E; SATO, E. I.; SALLUM, A. M. E.. Participação em banca de Jean Marcos de Souza. Terapia de indução à
remissão e reabilitação física nas miopatias necrotizantes imunomediadas. 2019. Exame de qualificação (Doutorando em
Medicina (Reumatologia)) - Universidade de São Paulo.
ZANOTELI, E; Allemann N. Participação em banca de Luisa Moreira Hopker. Alterações histopatológicas da bupivacaína na
musculatura extraocular de coelhos. 2014. Exame de qualificação (Doutorando em Medicina (Oftalmologia)) - Universidade
Federal de São Paulo.
Maria aparecida viscondi; Carrettiero D; ZANOTELI, E.. Participação em banca de Andreas Betz. Neuroproteção
dopaminérgica através da associação de exercício físico espontâneo e tratamento crônico com nicotina em modelo da
doença de Parkinson em ratos: indicativos de mecanismos envolvidos. 2010. Exame de qualificação (Doutorando em
Ciências (Fisiologia Geral)) - Universidade de São Paulo.
ZANOTELI, E.; Strauss, BE; Chammas, R. Participação em banca de Poliana Cristina de Melo Martins. Estudo da proteína
FKRP-fukutin-related-protein em modelos murinos para doenças neuromusculares. 2009. Exame de qualificação (Doutorando
em Interunidades em Biotecnologia) - Universidade de São Paulo.
2.
3.
4.
Participação em bancas de comissões julgadoras
Concurso público
1.
ZANOTELI, E; PRADO, G. F.; PALMA, D.; BAPTISTA-SILVA, J. C.; HAMAD, A. P. A.; LIMA, M. A. S. D.. Concurso público de
professor Adjunto A, Nível I. 2019. Universidade Federal de São Paulo.
1.
ZANOTELI, E. . Teaching Book Competition - Gisele Sampaio Silva. 2018. Federal University of São Paulo.
Livre docência
Events
Participation in events, congresses, exhibitions and fairs
1.
two.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
XXX Brazilian Congress of Medical Geneics. 2018. (Congress).
16th International Congress of the World Muscle Society. The role of neuraminidase 1 on muscle regeneration. 2011.
(Congress).
Myology. The role of neuraminidase 1 on muscle atrophy. 2011. (Congress).
VIII São Paulo Congress of Neurology. Round table: Neuromuscular diseases with autoimmune causes. Inclusion body
myopathies. 2011. (Congress).
XXIII Brazilian Congress of Medical Genetics. Pre-congress course IV: Spinal Amyotrophy. 2011. (Congress).
XXIII Brazilian Congress of Medical Genetics. Redodna Table 2. Theme: Neurogenetics - Myopathies. 2011. (Congress).
EVELAM 2010 - Euro Latin American School of Myology. 2010. (Meeting).
XXXIV Annual Congress of the Brazilian Society of Neuroscience and Behavior - SBNec 2010. Experimental study on
childhood spinal amyotrophy. 2010. (Congress).
EVELAM 2009 - Euro Latin American Summer School of Myology. 2009. (Meeting).
ORITEL 4th AACD International Congress of Rehabilitation Medicine. Neuromuscular Diseases: Myopathies - Clinical aspects.
2009. (Congress).
EVELAM 2008 - Posttitle update course. 2008. (Meeting).
12th International Congress of the World Muscle Society. Ozz-E3 ligase expression during muscle regeneration. 2007.
(Congress).
11th International Congress of the World Muscle Society. Skeletal muscle involvement in neuraminidase deficient mice. 2006.
(Congress).
The special child. Lecture: Neuromuscular Diseases. 2003. (Symposium).
IV São Paulo Congress of Neurology. Round table (Neurogenetics). Lecture: Update on neuromuscular diseases. 2003.
(Congress).
16.
17.
18.
19.
20.
21.
22.
23.
24.
25.
26.
Clinical exercises in Neuropediatrics. Lecture: Advances in the diagnosis of spinal muscular atrophy. 2002. (Symposium).
Clinical exercises in Neuropediatrics. Lecture: Advances in congenital myopathies. 2002. (Symposium).
II ORITEL International Rehabilitation Congress. Neuromuscular Diseases Course. Lecture: Neuromuscular Diseases:
concept, classification and clinical picture. 2002. (Congress).
Update Day on Neuromuscular Diseases. Round Table - Muscular dystrophies. Lecture: Genetics. 2002. (Meeting).
Update Day on Neuromuscular Diseases. Lecture: Rehabilitation in neuromuscular diseases. 2002. (Meeting).
AACD 50th anniversary congress. Lecture: Progressive spinal amyotrophy. 2000. (Congress).
XIX Brazilian Congress of Neurology. Pre-congress course (myasthenia-neuromuscular diseases). Class: Classification of
muscular dystrophies. 2000. (Congress).
XIX Brazilian Congress of Neurology. Pre-congress course (myasthenia-neuromuscular diseases). Class: Treatment of
muscular dystrophies - anabolic steroids, corticosteroids and genic. 2000. (Congress).
XII Brazilian Conference on Neuromuscular Diseases. Working group/patients and caregivers - Muscular Dystrophy.
Chairman of the table and lecture: Muscular dystrophy. 1999. (Congress).
XII Brazilian Conference on Neuromuscular Diseases. Lecture: Classification of neuromuscular diseases. 1999. (Congress).
XIII National Congress of the Brazilian Cerebral Palsy Association. Round table. Lecture: Advances in neuromyopathies.
Therapeutics and evolutionary aspects. 1998. (Congress).
Organization of events, congresses, exhibitions and fairs
1.
two.
3.
4.
5.
Zanoteli, Edmar . Euro-Latin American Summer School of Myology - EVELAM. 2011. (Congress).
ZANOTELI, E. . III Update course on neuromuscular diseases: cardiopulmonary aspects. 2010. (Other).
ZANOTELI, E. . Update on Neuromuscular Diseases. 2009. (Other).
ZANOTELI, E. . II Update Course on Neuromuscular Diseases: infantile spinal amyotrophy. 2009. (Other).
ZANOTELI, E. ; Urtizberea, A; Rose, A.J. Workshop on neuromuscular diseases: therapeutic aspects. 2009. (Other).
Guidelines
Guidance and supervision completed
Masters dissertation
1.
Leandro Nunes Sanches. Histological and molecular analysis of the diaphragm muscle after treatment with different
glucocorticoids and under the association of Omega-3 fatty acid and dexamethasone in rats. 2017. Dissertation (Masters in
Medicine (Neurology)) - University of São Paulo, Coordination for the Improvement of Higher Education Personnel. Advisor:
Edmar Zanoteli.
two.
Francisco Marcos Alencar da Silva. Molecular analysis and protein expression of the calpain-3 gene in patients with limbgirdle muscular dystrophy. 2016. Dissertation (Masters in Medicine (Neurology)) - University of São Paulo, Coordination for
the Improvement of Higher Education Personnel. Advisor: Edmar Zanoteli.
Rubens de Larina. Study of the involvement of neuraminidase 1 in autophagy. 2016. Dissertation (Masters in Medicine
(Neurology)) - University of São Paulo, . Advisor: Edmar Zanoteli.
3.
4.
Vanessa Rodrigues Rizzato. Involvement of neuraminidase 1 in muscle atrophy. 2014. Dissertation (Master's in
Neurology) - University of São Paulo, São Paulo State Research Support Foundation. Advisor: Edmar Zanoteli.
5.
Juliana de Carvalho Neves. Involvement of neuraminidase 1 in muscle regeneration. 2014. Dissertation (Masters in
Medicine (Neurology)) - University of São Paulo, São Paulo State Research Support Foundation. Advisor: Edmar Zanoteli.
6.
Alan Fappi. Effects of Omega-3 fatty acid in preventing muscle atrophy induced by Dexamethasone. 2013. Dissertation
(Masters in Medicine (Neurology)) - University of São Paulo, São Paulo State Research Support Foundation. Advisor: Edmar
Zanoteli.
Isabela Mattos De Vuono. Histological analysis of the palatopharyngeal muscles in children. 2005. Dissertation (Masters in
Medicine (Otorhinolaryngology)) - Federal University of São Paulo, Coordination for the Improvement of Higher Education
Personnel. Co-supervisor: Edmar Zanoteli.
Regina Toni Loreiro de Freitas. Analysis of collagen VI expression in congenital muscular dystrophy. 2004. Dissertation
(Masters in Neurology / Neurosciences) - Federal University of São Paulo, . Co-supervisor: Edmar Zanoteli.
MOACIR AT FIREMAN. Nemaline myopathy. Clinical and histological study. 2001. 0 f. Dissertation (Master's degree in
Neurology / Neuroscience) - Federal University of São Paulo, . Co-supervisor: Edmar Zanoteli.
7.
8.
9.
Doctoral thesis
1.
Wagner Cid Palmeira Cavalcante. Analysis of the skeletal muscles of patients with a histological diagnosis of inflammatory
myopathy with mitochondrial changes using nuclear magnetic resonance. 2019. Thesis (Doctorate in Medicine) - University
of São Paulo, . Advisor: Edmar Zanoteli.
two.
André Macedo Serafim da Silva. Clinical, histological and molecular study of patients with distal and myofibrillar
myopathies. 2018. Thesis (Doctorate in Neurology) - Faculty of Medicine - University of São Paulo, . Advisor: Edmar Zanoteli.
3.
Rodrigo de Holanda Mendonça. NATURAL HISTORY OF CHILDHOOD SPINAL MUSCULAR ATROPHY: CLINICAL,
FUNCTIONAL AND ELECTROPHYSIOLOGICAL STUDY. 2018. Thesis (Doctorate in Neurology) - Faculty of Medicine University of São Paulo, . Advisor: Edmar Zanoteli.
4.
Clara Gontijo Camelo. Clinical, histological and molecular study of patients with congenital muscular dystrophy due to
merosin deficiency. 2018. Thesis (Doctorate in Neurology) - Faculty of Medicine - University of São Paulo, . Co-supervisor:
Edmar Zanoteli.
5.
Vitor Marques Caldas. Electrophysiological assessment of the neuromuscular junction in patients with congenital myasthenia,
structural congenital myopathy and mitochondrial myopathy: a quantitative analysis. 2017. Thesis (Doctorate in Medicine
(Neurology)) - University of São Paulo, . Advisor: Edmar Zanoteli.
6.
Cristiane de Araújo Martins. Clinical, histological and molecular study on myopathies with protein aggregates and
congenital fiber disproportion. 2016. Thesis (Doctorate in Medicine (Neurology)) - University of São Paulo, . Advisor: Edmar
Zanoteli.
7.
Eduardo de Paula Estephan. Clinical and molecular study on congenital myasthenia. 2016. Thesis (Doctorate in Medicine
(Neurology)) - University of São Paulo, . Advisor: Edmar Zanoteli.
8.
Leonardo Valente de Camargo. Clinical, histological, immunohistochemical and lysosomal function study in inclusion
body myositis.. 2016. Thesis (Doctorate in Medicine) - University of São Paulo, . Advisor: Edmar Zanoteli.
9.
Osorio Abath Neto. Clinical, histological and molecular study on centronuclear/myotubular myopathy. 2014. Thesis
(Doctorate in Medicine) - Faculty of Medicine - University of São Paulo, Coordination for the Improvement of Higher
Education Personnel. Advisor: Edmar Zanoteli.
10.
Alan Fappi. Effects of glucocorticoids on the molecular pathways that regulate muscle trophism in rats and the effect of
Omega-3 fatty acid (EPA/DHA) on muscle atrophy induced by dexamethasone.. 2014. Thesis (Doctorate in Medicine
(Neurology)) - University of São Paulo, São Paulo State Research Support Foundation. Advisor: Edmar Zanoteli.
11.
Juliana de Carvalho Neves. Regulation of IGF and PDGF receptors in skeletal muscle of neuraminidase-1-deficient mice.
2014. Thesis (Doctorate in Medicine (Neurology)) - University of São Paulo, . Advisor: Edmar Zanoteli.
12.
Lívia Meirelles Pasqualim. Clinical, histological and molecular study in children with congenital muscular dystrophy with
lamin A/C deficiency. 2013. Thesis (Doctorate in Medicine (Neurology)) - University of São Paulo, . Advisor: Edmar Zanoteli.
Marco Antônio Veloso de Albuquerque. Clinical-immunostochemical characterization of limb-girdle muscular dystrophy in
children and molecular analysis of the FKRP gene. 2012. Thesis (Doctorate in Medicine (Neurology)) - University of São
Paulo, National Council for Scientific and Technological Development. Co-supervisor: Edmar Zanoteli.
Luciana Rodrigues Jacy da Silva. Research on uniparental disomy in patients with spinal muscular atrophy. 2011. Thesis
(Doctorate in Medical and Biological Sciences) - Federal University of São Paulo, . Co-supervisor: Edmar Zanoteli.
13.
14.
1.
two.
1.
two.
1.
two.
1.
two.
3.
4.
5.
6.
Postdoctoral supervision
Julio Brandao Guimaraes. 2019. Faculty of Medicine - University of São Paulo, . Edmar Zanoteli.
Mariana Artilheiro. 2019. University of São Paulo, . Edmar Zanoteli.
Finalization monograph of improvement/specialization course
Fernanda M Rocco. Assessment of motor function in children with congenital muscular dystrophy with merosin deficiency.
2003. Monograph. (Improvement/Specialization in Physiotherapy) - Association for Assistance to Disabled Children,
Association for Assistance to Disabled Children. Advisor: Edmar Zanoteli.
Roso V. Surgical treatment of scoliosis in progressive spinal amyotrophy. 2002. Monograph. (Improvement/Specialization in
Orthopedics) - Association for Assistance to Disabled Children, Association for Assistance to Disabled Children. Advisor:
Edmar Zanoteli.
Undergraduate course completion work
MARIA APARECIDA MARINGOLI. Alcoholic peripheral polyneuropathy. 1998. 0 f. Completion of course work. (Graduate in
Physiotherapy) – Bandeirantes University of São Paulo. Advisor: Edmar Zanoteli.
MARIA DE FÁTIMA SILVA. Physiotherapy treatment in multiple sclerosis. 1998. 0 f. Completion of course work. (Graduate in
Physiotherapy) – Bandeirantes University of São Paulo. Advisor: Edmar Zanoteli.
Scientific research
Felipe Pereira da Silva. Evaluation of the lysosomal autophagic process in skeletal muscle tissue of rats subjected to omega-3
fatty acid (EPA/DHA) supplementation associated or not with the administration of dexamethasone. 2019. Scientific
Initiation. (Graduating in Physiotherapy) - Universidade Nove de Julho, fapesp. Advisor: Edmar Zanoteli.
Thayane Correa Pereira Brandão. Evaluation of the expression of Calpain and Caspase-3 in the skeletal muscle tissue of rats
subjected to the administration of different glucocorticoids and after omega-3 fatty acid supplementation (EPA/DHA)
associated or not with the administration of dexamethasone.. 2019. Scientific Initiation. (Graduating in Physiotherapy) Universidade Nove de Julho, fapesp. Advisor: Edmar Zanoteli.
Sara Borges Viana. Study of protein expression and activity of cathepsins B and L in fibroblasts from mice with
neuraminidase 1 deficiency. 2018. Scientific Initiation. (Graduating in Biomedicine) - University Center of Faculdades
Metropolitanas Unidas, National Council for Scientific and Technological Development. Advisor: Edmar Zanoteli.
Pedro Vitor Massaroto e Silva. Assessment of the IGF-1 receptor in muscle atrophy induced by dexamethasone with or
without prior supplementation with omega-3 fatty acid. 2017. Scientific Initiation. (Graduating in Medicine) - University of
São Paulo, fapesp. Advisor: Edmar Zanoteli.
Guilherme Yuiti Sikusawa. Morphometric evaluation of different skeletal muscles of rats subjected to the administration of
different glucocorticoids and dexamethasone associated or not with previous supplementation of Omega-3 fatty acids. 2017.
Scientific Initiation. (Graduating in Medicine) - University of São Paulo, National Council for Scientific and Technological
Development. Advisor: Edmar Zanoteli.
Marina Dezie Tanaka. Expression of glucocorticoid receptors in neuraminidase 1 deficiency. 2014. Scientific Initiation.
(Graduating in Medicine) - University of São Paulo. Advisor: Edmar Zanoteli.
7.
Karine Akemi Kawasaki. Effects of glucocorticoids on muscular atrophy.. 2014. Scientific Initiation. (Graduating in Medicine) University of São Paulo, fapesp. Advisor: Edmar Zanoteli.
8.
Mariana Miranda Garcia. Analysis of sialidases expression in muscle atrophy. 2013. Scientific Initiation. (Graduating in
Biomedicine) - University Center of Faculdades Metropolitanas Unidas. Advisor: Edmar Zanoteli.
9.
Tiago Suzuki Godoy. Effects of Omega-3 fatty acid in preventing muscle atrophy induced by Dexamethasone. 2012. Scientific
Initiation. (Graduating in Medicine) - Faculty of Medicine of Marília, National Council for Scientific and Technological
Development. Advisor: Edmar Zanoteli.
10.
Geiza de Lima Oliveira. Study of the proliferative potential and differentiation of primary muscle cells from Neu1-deficient
mice. 2010. Scientific Initiation - University of São Paulo, São Paulo State Research Support Foundation. Advisor: Edmar
Zanoteli.
11.
Rafael Mohriak. Histological analysis of skeletal muscle from highly trained marathon athletes. 2004. Scientific Initiation.
(Graduating in Medicine) - Federal University of São Paulo, Pidic. Advisor: Edmar Zanoteli.
12.
David Del Curto. Analysis of central nervous system involvement using magnetic resonance imaging in congenital muscular
dystrophy with merosin deficiency. 2003. Scientific Initiation. (Graduating in Medicine) - Federal University of São Paulo,
Pidic. Advisor: Edmar Zanoteli.
13.
DAVID DEL CURTO. Study of the emerin protein in muscular dystrophies. 2002. 0 f. Scientific research. (Graduating in
Medicine) - Federal University of São Paulo, National Council for Scientific and Technological Development. Advisor: Edmar
Zanoteli.
Innovation
research project
2018 - Current
2018 - Current
Analysis of skeletal muscles in patients with typical and atypical forms of inclusion body
myositis using magnetic resonance imaging and ultrasound
Description: Inclusion body myositis (IBM) is the most common muscle disease after the
age of 50. Although it is included in the group of inflammatory myopathies, recent studies
have shown a particular process of muscle degeneration characterized by abnormal
deposition of protein aggregates and abnormal functioning of the main protein degradation
systems. Many patients present some clinical and histological characteristics that do not
allow us to diagnose them as MCI, thus being considered possible or even atypical cases.
An example would be polymyositis with mitochondrial changes. In this study we intend to
evaluate the main muscle groups of the upper and lower limbs in 30 patients with welldefined MCI and with suspicious or atypical forms, including polymyositis with
mitochondrial changes, using nuclear magnetic resonance with the aim of determining a
typical image profile of the MCI, even in those doubtful cases or with atypical
manifestations. Additionally, among these patients, a group of 18 will also undergo an
ultrasound (US) study of the skeletal muscles with the aim of comparing the effectiveness
of both exams (MRI and US) in the muscular assessment of these patients. Characterizing
muscle involvement is important to determine the degree of muscle degeneration and
inflammation, and the muscle groups most affected in the disease, in addition to helping to
diagnose inflammatory myopathies without a defined diagnosis. Such information will be
useful both to assist in diagnosis and to prescribe immunosuppressive and rehabilitation
medications.
Status: In progress; Nature: Research.
Students involved: Doctorate: (1) .
Members: Edmar Zanoteli - Coordinator / Andre Macedo Serafim da Silva - Member / Júlio
Brandão Guimarães - Member / Wagner Cid Palmeira Cavalcante - Member / Marcelo
Astolfi C. Nico - Member / Alipio Gomes Ormond Filho - Member / Laís Ueda Aivazoglou Member.
Financier(s): Fleury Medicina e Saúde - Cooperation.
Open-label, multicenter, two-part, ongoing study to investigate the safety, tolerability,
pharmacokinetics, pharmacodynamics, and efficacy of RO7034067 in infants with spinal
muscular atrophy type 1
Description: Open-Label, Phase I/Ia Clinical Trial to Evaluate the Safety, Pharmacokinetics,
and Pharmacodynamics of RO7034067 in Infants with Infantile Spinal Muscular Atrophy
Type I [Werdnig-Hoffman] SMA Type 1 and Select the Dose for Part 2. Muscular Atrophy
spinal cord injury (SMA) is an autosomal recessive neuromuscular disease characterized by
progressive loss of proximal motor neurons leading to muscle weakness and profound
neuromotor disability beginning in childhood.
Status: In progress; Nature: Research.
Members: Edmar Zanoteli - Coordinator / Umbertina Conti Reed - Member / Rodrigo
Holanda de Mendonça - Member / Ciro Matsui Junior - Member.
Financier(s): F HOFFMANN LA ROCHE LTD - Financial aid.
Other relevant information
1. Internship at the "Muscle Center of the Human Genetic Institute of Newcastle University" ("Clinical
Observer"), period: 16th May until 3rd June 2011, under the supervision of Prof. Volker Straub. 2.
Founding member and deputy delegate of GELAM ("Groupe Euro-Latino-Américain de Myologie"), 2011. 3.
Brazilian correspondent of the Journal "Les cashiers de Myologie", a publication of the SFM ("Societé
Française de Myologie").
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