Desenvolupament neuronal i malalties
metabòliques
Publicacions 2011
Sumatori Factor d’Impacte: 147,392
Alcaide P, Merinero B, Ruiz Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch R, Campistol
J, Ugarte M, Rodríguez Pombo P. Defining the pathogenicity of creatine deficiency syndrome.
Hum Mutat 2011 ; 32 (3) : 282-91 Factor d’impacte: 5,956 Q1
Arrabal L, Teresa L, Sánchez Alcudia R, Castro M, Medrano C, Gutiérrez Solana L, Roldán S,
Ormazábal A, Pérez Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR. Genotypephenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new
phenotypic variant. Neurogenetics 2011 ; 12 (3) : 183-91 Factor d’impacte: 3,488 Q1
Barba MA, Rivera A, Pintos G. Spanish FOS-Study Group. Fabry disease in Spain: description of
Spanish patients and a comparison with other European countries using data from the Fabry
Outcome Survey (FOS). Int J Clin Pract 2011 ; 65 (8) : 903-10 Factor d’impacte: 2,309 Q1
Calderón C, Gómez López L, Martínez Costa C, Borraz S, Moreno Villares JM, Pedrón C. Feeling
of burden, psychological distress, and anxiety among primary caregivers of children with home
enteral nutrition. J Pediatr Psychol 2011 ; 36 (2) : 188-95 Factor d’impacte: 2,943 Q2
Campistol J, Gassió R, Artuch R, Vilaseca MA. Neurocognitive function in mild
hyperphenylalaninemia. Dev Med Child Neurol 2011 ; 53 (5) : 405-8 Factor d’impacte: 3,264 Q1
D1
Couce ML, Pérez Cerdà C, García Silva MT, García Cazorla A, Martín Hernández E, Castiñeiras
D, Pineda M, Navarrete M, Campistol J, Fraga JM, Pérez B, Ugarte M. Hallazgos clínicos y
genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o
selectivo de sordera o de enfermedades metabólicas hereditarias. Med Clin (Barc) 2011 ; 137 (11)
: 500-3 Factor d’impacte: 1,413 Q2
Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson R, Asteggiano CG, Dalmau J, García AM,
Vilaseca MA, Grinberg D, Balcells S. Identification and functional analyses of CBS alleles in
Spanish and Argentinian homocystinuric patients. Hum Mutat 2011 ; 32 (7) : 835-42 Factor
d’impacte: 5,956 Q1
Delgadillo V, O'Callaghan M, Artuch R, Montero R, Pineda M. Genistein supplementation in
patients affected by Sanfilippo disease. J Inherit Metab Dis 2011 ; 34 (5) : 1039-44 Factor
d’impacte: 3,808 Q2
Duarte S, Ortez C, Pérez A, Artuch R, García Cazorla A. Analysis of synaptic proteins in the
cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission. J Inherit Metab
Dis 2011 ; 34 (2) : 523-8 Factor d’impacte: 3,808 Q2
Fasheh W, Pino R, Campistol J, Pineda M. Benign afebrile convulsions in the course of mild acute
gastroenteritis: a study of 28 patients and a literature review. Pediatr Emerg Care 2011 ; 27 (11) :
1062-4 Factor d’impacte: 0,803 Q3
Febrer A, Vigo M, Fagoaga J, Medina J, Rodríguez N, Tizzano E. Escala de valoración funcional
de Hammersmith para niños con atrofia muscular espinal: validación de la versión española. Rev
Neurol 2011 ; 53 (11) : 657-63 Factor d’impacte: 1,218 Q3
Fickie MR, Lapunzina P, Gentile JK, Tolkoff N, Kroshinsky D, Galan E, Gean E, Martorell L,
Romanelli V, Toral JF, Lin AE. Adults with Sotos syndrome: review of 21 adults with molecularly
confirmed NSD1 alterations, including a detailed case report of the oldest person. Am J Med
Genet A 2011 ; 155 (9) : 2105-11 Factor d’impacte: 2,505 Q2
Gabilondo I, Saiz A, Galán L, González V, Jadraque R, Sabater L, Sans A, Sempere A, Vela A,
Villalobos F, Viñals M, Villoslada P, Graus F. Analysis of relapses in anti-NMDAR encephalitis.
Neurology 2011 ; 77 (10) : 996-9 Factor d’impacte: 8,017 Q1 D1
García Cazorla A, Ortez C, Pérez Dueñas B, Serrano M, Pineda M, Campistol J, Fernández
Álvarez E. Hypokinetic-rigid syndrome in children and inborn errors of metabolism. Eur J Pediatr
Neurol 2011 ; 15 (4) : 295-302 Factor d’impacte: 1,994 Q2
González MJ, Gutiérrez AP, Gassió R, Fusté ME, Vilaseca MA, Campistol J. Neurological
complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit. Mol
Genet Metab 2011 ; 104 (Supl.) : S73-9 Factor d’impacte: 3,539 Q1
González Quereda L, Delgadillo V, Juan Mateu J, Verdura E, Rodríguez MJ, Baiget M, Pineda M,
Gallano P. LMNA mutation in progeroid syndrome in association with strokes. Eur J Med Genet
2011 ; 54 (6) : 576-9 Factor d’impacte: 2,335 Q3
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M,
Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E,
Okun JG, Wilcken B, Hoffmann GF, Burgard P. Diagnosis and management of glutaric aciduria
type I - revised recommendations. J Inherit Metab Dis 2011 ; 34 (3) : 677-94 Factor d’impacte:
3,808 Q2
López Laso E, Sánchez Raya A, Moriana JA, Martínez Gual E, Camino León R, Mateos González
ME, Pérez Navero JL, Ochoa JJ, Ormazábal A, Opladen T, Klein C, Lao JI, Beyer K, Artuch R.
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease. J
Neurol 2011 ; 258 (12) : 2155-62 Factor d’impacte: 3,853 Q1
Martorell L, Nascimento MT, Colomé R, Genovés J, Naudó M, Nascimento A. Four sisters
compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete
inactivation of X-functional chromosome: implications for genetic counseling. J Hum Genet 2011 ;
56 (1) : 87-90 Factor d’impacte: 2,496 Q3
Mayo S, Monfort D, Roselló M, Orellana O, Oltra S, Armstrong J, Català V, Martínez F. De novo
interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X
chromosome inactivation. Cytogenet Genome Res 2011 ; 135 (2) : 93-101 Factor d’impacte: 1,783
Q3
Morey M, Castro L, Barreiro J, Cabanas P, Pombo M, Gil M, Bernabeu I, Díaz Grande JM, Rey L,
Ariceta G, Rica I, Nieto J, Vilalta R, Martorell L, Vila Cots J, Aleixandre F, Fontalba A, Soriano L,
García Sagredo JM, García Minaur S, Rodríguez B, Juaristi S, García Pardos C, Martínez Peinado
A, Millan JM, Medeira A, Moldovan O, Fernández A, Loidi L. Genetic diagnosis of X linked
dominant hypophosphatemic rickets in a cohort study: tubular reabsorption of phosphate and
1,25(OH)2D serum levels are associated with PHEX mutation type. BMC Med Genet 2011 ; 12 (1)
: 116 Factor d’impacte: 2,439 Q3
Navarro Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J,
Font A, García Villoria J, Merinero B, Ugarte M, Gutiérrez Solana LG, Campistol J, García Cazorla
A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. A Fatal mitochondrial disease is
associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S
proteins. Am J Hum Genet 2011 ; 89 (5) : 656-67 Factor d’impacte: 11,680 Q1 D1
Olive M, Odgerel Z, Martínez A, Poza JJ, García F, Zabalza R, Jericó I, González Mera L,
Shatunov A, Suk Lee H, Armstrong J, Mariví E, Ramos M, Pascual J, Navarro C, Paradas C,
Huerta M, Márquez F, Gutiérrez E, Pou A, Ferrer I, Goldfardb L. Clinical and myopathological
evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord 2011 ;
21 (8) Factor d’impacte: 2,764 Q2
Ormazábal A, Serrano M, García Cazorla A, Campistol J, Artuch R, Castro P, Barredo E,
Armstrong J, Toma C, Cormand B. Deletion in the tyrosine hydroxylase gene in a patient with a
mild phenotype. Mov Disord 2011 ; 26 (8) : 1558-60 Factor d’impacte: 4,480 Q1
Ormazábal A, Pérez Dueñas B, Sierra C, Urreizti R, Montoya J, Serrano M, Campistol J, García
Cazorla A, Pineda M, Artuch R. Folate analysis for the differential diagnosis of profound
cerebrospinal fluid folate deficiency. Clin Biochem 2011 ; 44 (8) : 719-21 Factor d’impacte: 2,043
Q2
Ortez C, Villar C, Fons C, Duarte S, Pérez A, García Villoria J, Ribes A, Ormazábal A, Casado M,
Campistol J, Vilaseca MA, García Cazorla A. Undetectable levels of CSF amyloid-ß peptide in a
patient with 17ß-hydroxysteroid dehydrogenase deficiency. J Alzheimers Dis 2011 ; 27 (2) : 253-7
Factor d’impacte: 4,261 Q1
Pérez Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis
E, Pineda M, García Cazorla A, Campistol J, Pascual JM, Artuch R. Cerebral folate deficiency
syndromes in childhood: clinical, analytical, and etiologic aspects. Arch Neurol 2011 ; 68 (5) : 61521 Factor d’impacte: 7,108 Q1 D1
Pérez Poyato M, Milà M, Ferrer I, Montero R, Rodríguez Revenga L, Cusí Sanchez V, García
González MM, Domingo R, Camino R, Velázquez Fragua R, Martínez Bermejo A, Pineda M.
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. J
Inherit Metab Dis 2011 ; 34 (5) : 1083-93 Factor d’impacte: 3,808 Q2
Pérez Poyato M, Pineda M. New agents and approaches to treatment in niemann - pick type C
disease. Curr Pharm Biotechnol 2011 ; 12 (6) : 897-901 Factor d’impacte: 3,455 Q2
Ramírez Camacho A, Meavilla S, Catalán N, Gutiérrez A, Campistol J. Experiencia con la dieta
cetogénica como tratamiento en la epilepsia refractaria. Rev Neurol 2011 ; 53 (9) : 524-30 Factor
d’impacte: 1,218 Q3
Roche A, Gerotina E, Armstrong J, Sans O, Pineda M. FOXG1, un nuevo gen responsable de la
forma congénita del Síndrome de Rett. Rev Neurol 2011 ; 52 (10) : 597-602 Factor d’impacte:
1,218 Q3
Roche A, Alonso MI, Gomes A, Sanmartí FX, Armstrong J, Pineda M. Reflex seizures in Rett
syndrome. Epileptic Disord 2011 ; 13 (4) : 389-93 Factor d’impacte: 1,092 Q4
Romanelli V, Meneses HM, Fernández L, Martínez González V, Gracia R, Fraga M, Guillén E,
Nevado J, Gean E, Martorell L, Marfil VE, García Miñaur S, Lapunzina P. Beckwith-Wiedemann
syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and
evaluation of several techniques. Eur J Hum Genet 2011 ; 19 (4) : 416-21 Factor d’impacte: 4,380
Q1
Rubí S, Setoain X, Donaire A, Bargalló N, Sanmartí F, Carreño M, Rumià J, Calvo A, Aparicio J,
Campistol J, Pons F. Validation of FDG-PET/MRI coregistration in nonlesional refractory childhood
epilepsy. Epilepsia 2011 ; 52 (12) : 2216-24 Factor d’impacte:3,955 Q1
Sans A, Colomé R, López Sala A, Boix C, Muchart J, Rebollo M, Guitet M, Callejón L, Campistol J.
Amnesia del desarrollo como secuela cognitiva focal de patología neonatal. Rev Neurol 2011 ; 52
(Supl.1) : S29-38 Factor d’impacte: 1,218 Q3
Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S,
Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jiménez Mallebrera C, Nascimento A,
Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein
OK, Schlotter B, Schoser B, Kirschner J, Hermann R, Voit T, Oldfords A, Lindbergh C, Urtizberea
A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum
Genet 2011 ; 88 (2) : 162-72 Factor d’impacte: 11,680 Q1 D1
Serrano M, Ormazábal A, Vilaseca MA, Lambruschini N, García Romero R, Meavilla S, Pérez
Dueñas B, Pineda M, García Cazorla A, Campistol J, Artuch R. Assessment of plasma ammonia
and glutamine concentrations in urea cycle disorders. Clin Biochem 2011 ; 44 (8-9) : 742-4 Factor
d’impacte: 2,043 Q2
Tondo M, Málaga I, O'Callaghan M, Serrano M, Emperador S, Ormazábal A, Ruiz Pesini E,
Montoya J, García Silva MT, García Cazorla A, Pineda M, Artuch R. Biochemical parameters to
assess choroid plexus dysfunction in Kearns-Sayre syndrome patients. Mitochondrion 2011 ; 11
(6) : 867-70 Factor d’impacte: 3,238 Q2
Tondo M, Poo P, Naudó M, Ferrando T, Genovés J, Molero M, Martorell L. Predisposition to
epilepsy in fragile X syndrome: Does the Val66Met polymorphism in the BDNF gene play a role?
Epilepsy Behav 2011 ; 22 (3) : 581-3 Factor d’impacte: 1,994 Q3
Vega AI, Pérez Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B.
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency
(PMM2-CDG) : Expression analysis of PMM2-CDG mutations. J Inherit Metab Dis 2011 ; 34 (4) :
929-39 Factor d’impacte: 3,808 Q2
Velasco Sánchez D, Aracil A, Montero R, Mas A, Jiménez L, O'Callaghan M, Tondo M, Capdevila
A, Blanch J, Artuch R, Pineda M. Combined therapy with idebenone and deferiprone in patients
with friedreich's ataxia. Cerebellum 2011 ; 10 (1) : 1-8 Factor d’impacte: 3,288 Q2
Vilaseca MA, Gómez López L, Lambruschini N, Gutiérrez A, García R, Meavilla S, Moreno J,
Artuch R. Concentración de ácidos grasos poliinsaturados de cadena larga en pacientes con
errores innatos del metabolismo. Nutr Hosp 2011 ; 26 (1) : 128-136 Factor d’impacte: 0,926 Q4