Publications for Kathryn North
Publications for Kathryn North
2016
Hogarth, M., Garton, F., Houweling, P.,
Tukiainen, T., Lek, M., MacArthur, D., Seto, J.,
Quinlan (nee Edwards), K., Yang, N., Head, S.,
North, K. (2016). Analysis of the ACTN3
heterozygous genotype suggests that α-actinin-3
controls sarcomeric composition and muscle
function in a dose-dependent fashion. Human
Molecular Genetics, 25(5), 866-877. <a
href="http://dx.doi.org/10.1093/hmg/ddv613">[
More Information]</a>
Lemckert, F., Bournazos, A., Eckert, D.,
Kenzler, M., Hawkes, J., Butler, T., Ceely, B.,
North, K., Winlaw, D., Egan, J., Cooper, S.
(2016). Lack of MG53 in human heart precludes
utility as a biomarker of myocardial injury or
endogenous cardioprotective factor.
Cardiovascular Research, 110(2), 178-187. <a
href="http://dx.doi.org/10.1093/cvr/cvw017">[M
ore Information]</a>
2015
Head, S., Chan, S., Houweling, P., Quinlan (nee
Edwards), K., Murphy, R., Wagner, S., Friedrich,
O., North, K. (2015). Altered Ca2+ Kinetics
Associated with α-Actinin-3 Deficiency May
Explain Positive Selection for ACTN3 Null
Allele in Human Evolution. PLoS Genetics,
11(2), 1-18. <a
href="http://dx.doi.org/10.1371/journal.pgen.100
4862">[More Information]</a>
Lorenzo, J., Barton, B., Arnold, S., North, K.
(2015). Developmental trajectories of young
children with neurofibromatosis type 1: a
longitudinal study from 21 to 40 months of age.
The Journal of Pediatrics, 166(4), 1006-1012.e1.
<a
href="http://dx.doi.org/10.1016/j.jpeds.2014.12.0
12">[More Information]</a>
Sandaradura, S., North, K. (2015). LMOD3: the
missing link "in nemaline myopathy?".
Oncotarget, 6(29), 26548-26549. <a
href="http://dx.doi.org/10.18632/oncotarget.526
7">[More Information]</a>
Cornett, K., North, K., Rose, K., Burns, J.
(2015). Muscle weakness in children with
neurofibromatosis type 1. Developmental
Medicine and Child Neurology, 57(8), 733-736.
<a
href="http://dx.doi.org/10.1111/dmcn.12777">[
More Information]</a>
Yuen, M., Cooper, S., Marston, S., Nowak, K.,
McNamara, E., Mokbel, N., Ilkovski, B.,
Ravenscroft, G., Rendu, J., de Winter, J., North,
K., Clarke, N., et al (2015). Muscle weakness in
TPM3-myopathy is due to reduced
Ca2+-sensitivity and impaired acto-myosin
cross-bridge cycling in slow fibres. Human
Molecular Genetics, 24(22), 6278-9622. <a
href="http://dx.doi.org/10.1093/hmg/ddv334">[
More Information]</a>
Ilkovski, B., Pagnamenta, A., O'Grady, G.,
Kinoshita, T., Howard, M., Lek, M., Thomas, B.,
Turner, A., Christodoulou, J., Sillence, D.,
Waddell, L., Brilot-Turville, F., North, K.,
Clarke, N., et al (2015). Mutations in PIGY:
expanding the phenotype of inherited
glycosylphosphatidylinositol deficiencies.
Human Molecular Genetics, 24(21), 6146-6159.
<a
href="http://dx.doi.org/10.1093/hmg/ddv331">[
More Information]</a>
Rossor, A., Oates, E., Salter, H., Liu, Y.,
Murphy, S., Schule, R., Gonzalez, M., Scoto, M.,
Phadke, R., Sewry, C., Rodriguez, M., Menezes,
M., Clarke, N., North, K., et al (2015).
Phenotypic and molecular insights into spinal
muscular atrophy due to mutations in BICD2.
Brain, 138(2), 293-310. <a
href="http://dx.doi.org/10.1093/brain/awu356">[
More Information]</a>
O'Grady, G., Best, H., Oates, E., Kaur, S.,
Charlton, A., Brammah, S., Punetha, J., Kesari,
A., North, K., Ilkovski, B., Clarke, N., et al
(2015). Recessive ACTA1 variant causes
congenital muscular dystrophy with rigid spine.
European Journal of Human Genetics, 23(6),
883-886. <a
href="http://dx.doi.org/10.1038/ejhg.2014.169">
[More Information]</a>
Rossor, A., Oates, E., Slater, H., Liu, Y.,
Murphy, S., Schule, R., Gonzales, M., Scoto, M.,
Phadke, R., Sewry, C., Rodriguez, M., Menezes,
M., Clarke, N., North, K., et al (2015). Reply:
The p.Ser107Leu in BICD2 is a mutation 'hot
spot' causing distal spinal muscular atrophy.
Brain, 138(11), 1-2. <a
href="http://dx.doi.org/10.1093/brain/awv160">[
More Information]</a>
Crawford, H., Barton, B., Wilson, M., Berman,
Y., McKelvey-Martin, V., Morrison, P., North,
K. (2015). The Impact of Neurofibromatosis
Type 1 on the Health and Wellbeing of
Australian Adults. Journal of Genetic
Counseling, 24(6), 931-944. <a
href="http://dx.doi.org/10.1007/s10897-015-982
9-5">[More Information]</a>
Ghaoui, R., Cooper, S., Lek, M., Jones, K.,
Corbett, A., Reddel, S., Needham, M., Liang, C.,
Waddell, L., Nicholson, G., O'Grady, G., Kaur,
S., Sue, C., Clarke, N., et al (2015). Use of
Whole-Exome Sequencing for Diagnosis of
Limb-Girdle Muscular Dystrophy: Outcomes and
Lessons Learned. JAMA Neurology, 72(12),
Publications for Kathryn North
1424-1432. <a
href="http://dx.doi.org/10.1001/jamaneurol.2015
.2274">[More Information]</a>
2014
American Journal of Medical Genetics. Part A,
164A (3), 661-665. <a
href="http://dx.doi.org/10.1002/ajmg.a.36338">[
More Information]</a>
Garton, F., Seto, J., Quinlan (nee Edwards), K.,
Yang, N., Houweling, P., North, K. (2014).
alpha-Actinin-3 deficiency alters muscle
adaptation in response to denervation and
immobilisation. Human Molecular Genetics,
23(7), 1879-1893. <a
href="http://dx.doi.org/10.1093/hmg/ddt580">[
More Information]</a>
Sullivan, K., El-Hoss, J., Quinlan (nee Edwards),
K., Deo, N., Garton, F., Seto, J., Gdalevitch, M.,
Turner, N., Cooney, G., Kolanczyk, M., North,
K., Little, D., Schindeler, A. (2014). NF1 is a
critical regulator of muscle development and
metabolism. Human Molecular Genetics, 23(5),
1250-1259. <a
href="http://dx.doi.org/10.1093/hmg/ddt515">[
More Information]</a>
North, K., Wang, C., Clarke, N., Jungbluth, H.,
Vainzof, M., Dowling, J., Amburgey, K.,
Quijano-Roy, S., Beggs, A., Sewry, C., et al
(2014). Approach to the diagnosis of congenital
myopathies. Neuromuscular Disorders, 24(2),
97-116. <a
href="http://dx.doi.org/10.1016/j.nmd.2013.11.0
03">[More Information]</a>
Champion, J., Rose, K., Payne, J., Burns, J.,
North, K. (2014). Relationship between cognitive
dysfunction, gait, and motor impairment in
children and adolescents with neurofibromatosis
type 1. Developmental Medicine and Child
Neurology, 56(5), 468-474. <a
href="http://dx.doi.org/10.1111/dmcn.12361">[
More Information]</a>
Redpath, G., Woolger, N., Piper, A., Lemckert,
F., Lek, A., Greer, P., North, K., Cooper, S.
(2014). Calpain cleavage within dysferlin exon
40a releases a synaptotagmin-like module for
membrane repair. Molecular Biology of the Cell,
25(19), 3037-3048. <a
href="http://dx.doi.org/10.1091/mbc.E14-04-094
7">[More Information]</a>
Thomas, K., Hamilton (Ellis), N., North, K.,
Houweling, P. (2014). Sequence analysis of the
Equine ACTN3 Gene in Australian horse breeds.
Gene, 538(1), 88-93. <a
href="http://dx.doi.org/10.1016/j.gene.2014.01.0
14">[More Information]</a>
Champion, J., Rose, K., Payne, J., Burns, J.,
North, K. (2014). DELETE - DOUBLE ENTRY.
Relationship between cognitive dysfunction, gait,
and motor impairment in children and
adolescents with neurofibromatosis type 1.
Developmental Medicine and Child Neurology,
56(5), 468-474. <a
href="http://dx.doi.org/10.1111/dmcn.12361">[
More Information]</a>
Bonnemann, C., Wang, C., Quijano-Roy, S.,
Deconinck, N., Bertini, E., Ferreiro, A., Muntoni,
F., Sewry, C., Beroud, C., Mathews, K., et al
(2014). Diagnostic approach to the congenital
muscular dystrophies. Neuromuscular Disorders,
24(4), 289-311. <a
href="http://dx.doi.org/10.1016/j.nmd.2013.12.0
11">[More Information]</a>
Thomas, K., Zheng, X., Garces Suarez, F.,
Raftery, J., Quinlan (nee Edwards), K., Yang, N.,
North, K., Houweling, P. (2014). Evidence
Based Selection of Commonly Used RT-qPCR
Reference Genes for the Analysis of Mouse
Skeletal Muscle. PloS One, 9(2), 1-11. <a
href="http://dx.doi.org/10.1371/journal.pone.008
8653">[More Information]</a>
Payne, J., Pickering, T., Porter, M., Oates, E.,
Walia, N., Prelog, K., North, K. (2014).
Longitudinal assessment of cognition and
T2-hyperintensities in NF1: An 18-year study.
Pride, N., Korgaonkar, M., Barton, B., Payne, J.,
Vucic, S., North, K. (2014). The genetic and
neuroanatomical basis of social dysfunction:
Lessons from neurofibromatosis type 1. Human
Brain Mapping, 35(5), 2372-2382. <a
href="http://dx.doi.org/10.1002/hbm.22334">[M
ore Information]</a>
2013
Clarke, N., Amburgey, K., Teener, J.,
Camelo-Piragua, S., Kesari, A., Punetha, J.,
Waddell, L., Davis, M., Laing, N., Monnier, N.,
North, K., et al (2013). A novel mutation
expands the genetic and clinical spectrum of
MYH7-related myopathies. Neuromuscular
Disorders, 23(5), 432-436. <a
href="http://dx.doi.org/10.1016/j.nmd.2013.02.0
09">[More Information]</a>
Friedlander, S., Herrmann, A., Lowry, D.,
Mepham, E., Lek, M., North, K., Organ, C.
(2013). ACTN3 Allele Frequency in Humans
Covaries with Global Latitudinal Gradient. PloS
One, 8(1), 1-4. <a
href="http://dx.doi.org/10.1371/journal.pone.005
2282">[More Information]</a>
Seto, J., Quinlan (nee Edwards), K., Lek, M.,
Zheng, X., Garton, F., MacArthur, D., Hogarth,
M., Houweling, P., Gregorevic, P., Turner, N.,
Yang, N., North, K., et al (2013). ACTN3
genotype infuences muscle performance through
the regulation of calcineurin signaling. Journal
Publications for Kathryn North
of Clinical Investigation, 123(10), 4255-4263. <a
href="http://dx.doi.org/10.1172/JCI67691">[Mor
e Information]</a>
North, K. (2013). Actn3 genotype screen for
athletic performance. Patent No. 1732270,
2499084. Canada, China.
Wang, G., Mikami, E., Chiu, L., de Perini, A.,
Deason, M., Fuku, N., Miyachi, M., Kaneoka,
K., Murakami, H., Tanaka, M., North, K., et al
(2013). Association analysis of ACE and
ACTN3 in Elite Caucasian and East Asian
Swimmers. Medicine and Science in Sports and
Exercise, 45(5), 892-900. <a
href="http://dx.doi.org/10.1249/MSS.0b013e318
27c501f">[More Information]</a>
Lek, A., Evesson, F., Lemckert, F., Redpath, G.,
Lueders, A., Turnbull, L., Whitchurch, C., North,
K., Cooper, S. (2013). Calpains, Cleaved
Mini-DysferlinC72, and L-Type Channels
Underpin Calcium-Dependent Muscle
Membrane Repair. The Journal of Neuroscience,
33(12), 5085-5094. <a
href="http://dx.doi.org/10.1523/JNEUROSCI.35
60-12.2013">[More Information]</a>
Payne, J., Pride, N., North, K. (2013). Cognition
and Behaviour in Neurofibromatosis Type 1:
Pathogenesis and Emerging Therapies. In
Matthias A Karajannis, Jeffrey Allen (Eds.),
Neurofibromatosis Type 1: Symptoms, Treatment
and Prognosis, (pp. 117-146). Hauppauge NY,
USA: Nova Science Publishers.
Lorenzo, J., Barton, B., Arnold, S., North, K.
(2013). Cognitive Features that Distinguish
Preschool-Age Children with Neurofibromatosis
Type 1 from Their Peers: A Matched
Case-Control Study. The Journal of Pediatrics,
163(5), 1479-1483. <a
href="http://dx.doi.org/10.1016/j.jpeds.2013.06.0
38">[More Information]</a>
Eynon, N., Hanson, E., Lucia, A., Houweling, P.,
Garton, F., North, K., Bishop, D. (2013). Genes
for elite power and sprint performance: ACTN3
leads the way. Sports Medicine, 43(9), 803-817.
<a
href="http://dx.doi.org/10.1007/s40279-013-005
9-4">[More Information]</a>
Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M.,
Jeffries, C., Marttila, M., Lehtokari, V., Lemola,
E., Gronholm, M., Yang, N., Trewhella, J.,
North, K., Clarke, N., et al (2013). K7del is a
common TPM2 gene mutation associated with
nemaline myopathy and raised myofibre calcium
sensitivity. Brain, 136(2), 494-507. <a
href="http://dx.doi.org/10.1093/brain/aws348">[
More Information]</a>
Carss, K., Stevens, E., Foley, A., Cirak, S.,
Riemersma, M., Torelli, S., Hoischen, A., Willer,
T., Van Scherpenzeel, M., Moore, S., Young, H.,
North, K., et al (2013). Mutations in
GDP-Mannose Pyrophosphorylase B Cause
Congenital and Limb-Girdle Muscular
Dystrophies Associated with Hypoglycosylation
of α-Dystroglycan. American Journal of Human
Genetics, 93(1), 29-41. <a
href="http://dx.doi.org/10.1016/j.ajhg.2013.05.0
09">[More Information]</a>
Foley, A., Quijano-Roy, S., Collins, J., Straub,
V., McCallum, M., Deconinck, N., Mercuri, E.,
Pane, M., D'Amico, A., Bertini, E., North, K., et
al (2013). Natural history of pulmonary function
in collagen VI-related myopathies. Brain, 136,
3625-3633. <a
href="http://dx.doi.org/10.1093/brain/awt284">[
More Information]</a>
Payne, J., Barton, B., Shores, E., North, K.
(2013). Paired associate learning in children with
neurofibromatosis type 1: implications for
clinical trials. Journal of Neurology, 260(1),
214-220. <a
href="http://dx.doi.org/10.1007/s00415-012-662
0-5">[More Information]</a>
Pride, N., Crawford, H., Payne, J., North, K.
(2013). Social functioning in adults with
neurofibromatosis type 1. Research in
Developmental Disabilities, 34(10), 3393-3399.
<a
href="http://dx.doi.org/10.1016/j.ridd.2013.07.01
1">[More Information]</a>
Oates, E., Payne, J., Foster, S., Clarke, N., North,
K. (2013). Young Australian Adults With NF1
Have Poor Access to Health Care, High
Complication Rates, and Limited Disease
Knowledge. American Journal of Medical
Genetics. Part A, 161(4), 659-666. <a
href="http://dx.doi.org/10.1002/ajmg.a.35840">[
More Information]</a>
2012
Fitzsimons, D., Jones, D., Barton, B., North, K.
(2012). A procedure for the computerised
analysis of cleft palate speech transcription.
Clinical Linguistics and Phonetics, 26(1), 18-38.
<a
href="http://dx.doi.org/10.3109/02699206.2011.
584270">[More Information]</a>
Oates, E., Reddel, S., Rodriguez, M., Gandolfo,
L., Bahlo, M., Hawke, S., Lamande, S., Clarke,
N., North, K. (2012). Autosomal dominant
congenital spinal muscular atrophy: a true form
of spinal muscular atrophy caused by early loss
of anterior horn cells. Brain, 135(6), 1714-1723.
<a
href="http://dx.doi.org/10.1093/brain/aws108">[
More Information]</a>
Huson, S., Acosta, M., Belzberg, A., Bernards,
Publications for Kathryn North
A., Chernoff, J., Cichowski, K., Evans, D.,
Ferner, R., Giovannini, M., Korf, B., North, K.,
et al (2012). Back to the future: Proceedings
from the 2010 NF Conference. American Journal
of Medical Genetics. Part A, 155(2), 307-321. <a
href="http://dx.doi.org/10.1002/ajmg.a.33804">[
More Information]</a>
Biancalana, V., Beggs, A., Das, S., Jungbluth,
H., Kress, W., Nishino, I., North, K., Romero,
N., Laporte, J. (2012). Clinical utility gene card
for: Centronuclear and myotubular myopathies.
European Journal of Human Genetics, 20(10),
1-5. <a
href="http://dx.doi.org/10.1038/ejhg.2012.91">[
More Information]</a>
Wang, C., Dowling, J., North, K., Schroth, M.,
Sejersen, T., Shapiro, F., Bellini, J., Weiss, H.,
Guillet, M., Amburgey, K., Clarke, N.,
Fitzgerald, D., Munns, C., Rose, K., et al (2012).
Consensus statement on standard of care for
congenital myopathies. Journal of Child
Neurology, 27(3), 363-382. <a
href="http://dx.doi.org/10.1177/0883073812436
605">[More Information]</a>
Waddell, L., Evesson, F., North, K., Cooper, S.,
Clarke, N. (2012). Diagnosis of the Muscular
Dystrophies. In Madhuri Hegde and Arunkanth
Ankala (Eds.), Muscular Dystrophy, (pp.
261-288). Rijeka, Croatia: InTech Publishers.
Payne, J., Arnold, S., Pride, N., North, K. (2012).
Does attention-deficit-hyperactivity disorder
exacerbate executive dysfunction in children
with neurofibromatosis type 1? Developmental
Medicine and Child Neurology, 54(10), 898-904.
<a
href="http://dx.doi.org/10.1111/j.1469-8749.201
2.04357.x">[More Information]</a>
Lek, A., Evesson, F., Sutton, B., North, K.,
Cooper, S. (2012). Ferlins: Regulators of Vesicle
Fusion for Auditory Neurotransmission,
Receptor Trafficking and Membrane Repair.
Traffic (Malden), 13(2), 185-194. <a
href="http://dx.doi.org/10.1111/j.1600-0854.201
1.01267.x">[More Information]</a>
Menezes, M., Waddell, L., Evesson, F., Cooper,
S., Webster, R., Jones, K., Mowat, D., Kiernan,
M., Johnston, H., Corbett, A., North, K., Clarke,
N., et al (2012). Importance and challenge of
making an early diagnosis in LMNA-related
muscular dystrophy. Neurology, 78(16),
1258-1263. <a
href="http://dx.doi.org/10.1212/WNL.0b013e31
8250d839">[More Information]</a>
Menezes, M., North, K. (2012). Inherited
neuromuscular disorders: Pathway to diagnosis.
Journal of Paediatrics and Child Health, 48(6),
458-465. <a
href="http://dx.doi.org/10.1111/j.1440-1754.201
1.02210.x">[More Information]</a>
Rose, K., Burns, J., North, K. (2012).
Interventions for increasing ankle flexibility in
patients with neuromuscular disease: A Cochrane
Systematic Review. Neuromuscular Disorders,
22(9), 885-885.
Clarke, N., Waddell, L., Sie, L., van Bon, B.,
McLean, C., Clark, D., Kornberg, A., Lammens,
M., North, K. (2012). Mutations in TPM2 and
congenital fibre type disproportion.
Neuromuscular Disorders, 22(11), 955-958. <a
href="http://dx.doi.org/10.1016/j.nmd.2012.06.0
02">[More Information]</a>
Kalamarides, M., Acosta, M.,
Babovic-Vuksanovic, D., Carpen, O., Cichowski,
K., Evans, D., Giancotti, F., Hanemann, C.,
Ingram, D., Lloyd, A., North, K., et al (2012).
Neurofibromatosis 2011: a report of the
Childrens Tumor Foundation annual meeting.
Acta Neuropathologica, 123(3), 369-380. <a
href="http://dx.doi.org/10.1007/s00401-011-090
5-0">[More Information]</a>
Johnson, K., Fisher, M., Listernick, R., North,
K., Schorry, E., Viskochil, D., Weinstein, M.,
Rubin, J., Gutmann, D. (2012). Parent-of-origin
in individuals with familial neurofibromatosis
type 1 and optic pathway gliomas. Familial
Cancer, 11(4), 653-656. <a
href="http://dx.doi.org/10.1007/s10689-012-954
9-z">[More Information]</a>
Anderson, V., McKenzie, J., Seton, C.,
Fitzgerald, D., Webster, R., North, K., Joffe, D.,
Young, H. (2012). Sniff nasal inspiratory
pressure and sleep disordered breathing in
childhood neuromuscular disorders.
Neuromuscular Disorders, 22(6), 528-533. <a
href="http://dx.doi.org/10.1016/j.nmd.2012.02.0
02">[More Information]</a>
Pride, N., Payne, J., North, K. (2012). The
Impact of ADHD on the Cognitive and
Academic Functioning of Children With NF1.
Developmental Neuropsychology, 37(7),
590-600. <a
href="http://dx.doi.org/10.1080/87565641.2012.
695831">[More Information]</a>
Acosta, M., Bearden, C., Castellanos, X.,
Cutting, L., Elgersma, Y., Gioia, G., Gutmann,
D., Lee, Y., Legius, E., Muenke, M., North, K.,
et al (2012). The Learning Disabilities Network
(LeaDNet): using neurofibromatosis type 1
(NF1) as a paradigm for translational research.
American Journal of Medical Genetics. Part A,
158A (9), 2225-2232. <a
href="http://dx.doi.org/10.1002/ajmg.a.35535">[
More Information]</a>
Ardern-Holmes, S., North, K. (2012). Treatment
for plexiform neurofibromas in patients with
Publications for Kathryn North
NF1. The Lancet Oncology, 13(12), 1175-1176.
<a
href="http://dx.doi.org/10.1016/S1470-2045(12)
70435-7">[More Information]</a>
2011
Waddell, L., Tran, J., Zheng, X., Bonnemann, C.,
Hu, Y., Evesson, F., Lek, M., Arbuckle, S.,
Wang, M., Smith, R., North, K., Clarke, N.
(2011). A study of FHL1, BAG3, MATR3,
PTRF and TCAP in Australian muscular
dystrophy patients. Neuromuscular Disorders,
21(11), 776-781. <a
href="http://dx.doi.org/10.1016/j.nmd.2011.05.0
07">[More Information]</a>
Wang, D., Nykanen, M., Yang, N., Winlaw, D.,
North, K., Verkman, A., Owler, B. (2011).
Altered cellular localization of aquaporin-1 in
experimental hydrocephalus in mice and reduced
ventriculomegaly in aquaporin-1 deficiency.
Molecular and Cellular Neuroscience, 46(4),
318-324. <a
href="http://dx.doi.org/10.1016/j.mcn.2010.10.0
03">[More Information]</a>
Payne, J., Hyman, S., Shores, E., North, K.
(2011). Assessment of executive function and
attention in
children with neurofibromatosis type 1:
Relationships between cognitive measures and
real-world behavior. Child Neuropsychology,
17(4), 313-329. <a
href="http://dx.doi.org/10.1080/09297049.2010.
542746">[More Information]</a>
North, K. (2011). Clinical approach to the
diagnosis of congenital myopathies. Seminars in
Pediatric Neurology, 18(4), 216-220. <a
href="http://dx.doi.org/10.1016/j.spen.2011.10.0
02">[More Information]</a>
Seto, J., Lek, M., Quinlan (nee Edwards), K.,
Houweling, P., Zheng, X., Garton, F., Macarthur,
D., Raftery, J., Garvey, S., Hauser, M., North,
K., et al (2011). Deficiency of a-actinin-3 is
associated with
increased susceptibility to contraction-induced
damage and skeletal muscle remodeling. Human
Molecular Genetics, 20(15), 2914-2927. <a
href="http://dx.doi.org/10.1093/hmg/ddr196">[
More Information]</a>
Waddell, L., Lemckert, F., Zheng, X., Tran, J.,
Evesson, F., Hawkes, J., Lek, A., Street, N., Lin,
P., Clarke, N., North, K., Cooper, S., et al
(2011). Dysferlin, Annexin A1, and Mitsugumin
53 Are Upregulated in Muscular Dystrophy and
Localize to Longitudinal Tubules of the
T-System With Stretch. Journal of
Neuropathology and Experimental Neurology,
70(4), 302-313. <a
href="http://dx.doi.org/10.1097/NEN.0b013e318
21350b0">[More Information]</a>
Yiu, E., Klausegger, A., Waddell, L., Grasern,
N., Lloyd, L., Tran, K., North, K., Bauer, J.,
McKelvie, P., Chow, C., et al (2011).
Epidermolysis bullosa with late-onset muscular
dystrophy and plectin deficiency. Muscle and
Nerve, 44(1), 135-141. <a
href="http://dx.doi.org/10.1002/mus.22076">[M
ore Information]</a>
Ravenscroft, G., Sollis, E., Charles, A., North,
K., Baynam, G., Laing, N. (2011). Fetal akinesia:
review of the genetics of the neuromuscular
causes. Journal of Medical Genetics, 48(12),
793-801. <a
href="http://dx.doi.org/10.1136/jmedgenet-2011100211">[More Information]</a>
Bray, P., Bundy, A., Ryan, M., North, K., Burns,
J. (2011). Health status of boys with Duchenne
muscular dystrophy: A parent's perspective.
Journal of Paediatrics and Child Health, 47,
557-562. <a
href="http://dx.doi.org/10.1111/j.1440-1754.201
1.02022.x">[More Information]</a>
Nguyen, M., Joya, J., Kee, A., Domazetovska,
A., Yang, N., Hook, J., Lemckert, F., Kettle, E.,
Valova, V., Robinson, P., North, K., et al (2011).
Hypertrophy and dietary tyrosine ameliorate the
phenotypes of a mouse model of severe nemaline
myopathy. Brain, 134(Pt12), 3516-3529. <a
href="http://dx.doi.org/10.1093/brain/awr274">[
More Information]</a>
Au, C., Butler, T., Sherwood, M., Egan, J.,
North, K., Winlaw, D. (2011). Increased
connective tissue growth factor associated with
cardiac fibrosis in the mdx mouse model of
dystrophic cardiomyopathy. International
Journal of Experimental Pathology: mechanisms
and models of disease, 92(1), 57-65. <a
href="http://dx.doi.org/10.1111/j.1365-2613.201
0.00750.x">[More Information]</a>
Pistilli, E., Bogdanovich, S., Garton, F., Yang,
N., Gulbin, J., Conner, J., Anderson, B., Quinn,
L., North, K., Ahima, R., et al (2011). Loss of
IL-15 receptor α alters the endurance,
fatigability, and metabolic characteristics of
mouse fast skeletal muscles. Journal of Clinical
Investigation, 121(8), 3120-3132. <a
href="http://dx.doi.org/10.1172/JCI44945">[Mor
e Information]</a>
Lorenzo, J., Barton, B., Acosta, M., North, K.
(2011). Mental, Motor, and Language
Development of Toddlers with
Neurofibromatosis Type 1. The Journal of
Pediatrics, 158(4), 660-665. <a
href="http://dx.doi.org/10.1016/j.jpeds.2010.10.0
01">[More Information]</a>
Publications for Kathryn North
Koutsopoulos, O., Koch, C., Tosch, V., Bohm,
J., North, K., Laporte, J. (2011). Mild Functional
Differences of Dynamin 2 Mutations Associated
to Centronuclear Myopathy and
Charcot-Marie-Tooth Peripheral Neuropathy.
PloS One, 6(11), e27498-1-e27498-13. <a
href="http://dx.doi.org/10.1371/journal.pone.002
7498">[More Information]</a>
Lo, H., Bertini, E., Mirabella, M.,
Domazetovska, A., Dale, R., Petrini, S.,
D'Amico, A., Valente, E., Barresi, R., Roberts,
M., Cooper, S., North, K., et al (2011). Mosaic
Caveolin-3 Expression in Acquired Rippling
Muscle Disease Without Evidence of Myasthenia
Gravis or Acetylcholine Receptor
Autoantibodies. Neuromuscular Disorders,
21(3), 194-203. <a
href="http://dx.doi.org/10.1016/j.nmd.2010.11.0
15">[More Information]</a>
North, K., Shield, L. (2011). Muscle Disorders.
In Jean Aicardi (Eds.), Diseases of the Nervous
System in Childhood. London: Wiley.
Chan, S., Seto, J., Houweling, P., Yang, N.,
North, K., Head, S. (2011). Properties of
extensor digitorum longus muscle and skinned
fibers from adult and aged male and female
ACTN3 knockout mice. Muscle and Nerve,
43(1), 37-48. <a
href="http://dx.doi.org/10.1002/mus.21778">[M
ore Information]</a>
Sangster, J., Shores, E., Watt, S., North, K.
(2011). The Cognitive Profile of Preschool-Aged
Children with Neurofibromatosis Type 1. Child
Neuropsychology, 17(1), 1-16. <a
href="http://dx.doi.org/10.1080/0929704100376
1993">[More Information]</a>
Seto, J., Chan, S., Turner, N., MacArthur, D.,
Raftery, J., Berman, Y., Quinlan (nee Edwards),
K., Cooney, G., Head, S., Yang, N., North, K.
(2011). The effect of α-actinin-3 deficiency on
muscle aging. Experimental Gerontology, 46(4),
292-302. <a
href="http://dx.doi.org/10.1016/j.exger.2010.11.
006">[More Information]</a>
Ardern-Holmes, S., North, K. (2011).
Therapeutics for Childhood Neurofibromatosis
Type 1 and Type 2. Current Treatment Options
in Neurology, 13(6), 529-543. <a
href="http://dx.doi.org/10.1007/s11940-011-014
2-9">[More Information]</a>
Waddell, L., Monnier, N., Cooper, S., North, K.,
Clarke, N. (2011). Using complementary DNA
from MyoD-transduced fibroblasts to sequence
large muscle genes. Muscle and Nerve, 44(2),
280-282. <a
href="http://dx.doi.org/10.1002/mus.22118">[M
ore Information]</a>
Yang, N., Schindeler, A., McDonald, M., Seto,
J., Houweling, P., Lek, M., Hogarth, M., Morse,
A., Raftery, J., Balasuriya, D., Berman, Y.,
Quinlan (nee Edwards), K., Little, D., North, K.,
et al (2011). α-Actinin-3 deficiency is associated
with reduced bone mass in human and mouse.
Bone, 49(4), 790-798. <a
href="http://dx.doi.org/10.1016/j.bone.2011.07.0
09">[More Information]</a>
2010
Berman, Y., North, K. (2010). A Gene for Speed:
The Emerging Role of alpha-Actinin-3 in Muscle
Metabolism. Physiology, 25(4), 250-259. <a
href="http://dx.doi.org/10.1152/physiol.00008.20
10">[More Information]</a>
Scott, R., IRVING, R., Irwin, L., Morrison, E.,
Charlton, V., Austin, K., Tladi, D., Deason, M.,
Headley, S., Kolkhorst, F., North, K., et al
(2010). ACTN3 and ACE genotypes in elite
Jamaican and US sprinters. Medicine and
Science in Sports and Exercise, 42(1), 107-112.
<a
href="http://dx.doi.org/10.1249/MSS.0b013e318
1ae2bc0">[More Information]</a>
Quinlan (nee Edwards), K., Seto, J., Turner, N.,
Vandebrouck, A., Floetenmeyer, M., Macarthur,
D., Raftery, J., Lek, M., Yang, N., Parton, R.,
North, K., et al (2010). Alpha-actinin-3
deficiency results in reduced glycogen
phosphorylase activity and altered calcium
handling in skeletal muscle. Human Molecular
Genetics, 19(7), 1335-1346. <a
href="http://dx.doi.org/10.1093/hmg/ddq010">[
More Information]</a>
Lek, M., North, K. (2010). Are biological
sensors modulated by their structural scaffolds?
The role of the structural muscle proteins
alpha-actinin-2 and alpha-actinin-3 as
modulators of biological sensors. FEBS Letters,
584(14), 2974-2980. <a
href="http://dx.doi.org/10.1016/j.febslet.2010.05.
059">[More Information]</a>
Payne, J., Moharir, M., Webster, R., North, K.
(2010). Brain structure and function in
neurofibromatosis type 1: current concepts and
future directions. Journal of Neurology,
Neurosurgery and Psychiatry, 81(3), 304-309. <a
href="http://dx.doi.org/10.1136/jnnp.2009.17963
0">[More Information]</a>
Tooley, L., Zamurs, L., Beecher, N., Baker, N.,
Peat, R., Adams, N., Bateman, J., North, K.,
Baldock, C., Lamande, S. (2010). Collagen VI
microfibril formation is abolished by an
alpha2(VI) von Willebrand factor A-domain
mutation in a patient with Ullrich congenital
muscular dystrophy. Journal of Biological
Chemistry, 285(43), 33567-33576. <a
href="http://dx.doi.org/10.1074/jbc.M110.15252
Publications for Kathryn North
0">[More Information]</a>
Pride, N., Payne, J., Webster, R., Shores, E., Rae,
C., North, K. (2010). Corpus Callosum
Morphology and Its Relationship to Cognitive
Function in Neurofibromatosis Type 1. Journal
of Child Neurology, 25(7), 834-841. <a
href="http://dx.doi.org/10.1177/0883073809350
723">[More Information]</a>
Sambuughin, N., Yau, K., Olive, M., Duff, R.,
Bayarsaikhan, M., Lu, S., Gonzales-Mera, L.,
Sivadorai, P., Nowak, K., Ravenscroft, G.,
North, K., et al (2010). Dominant mutations in
KBTBD13, a member of the BTB/Kelch family,
cause nemaline myopathy with cores. American
Journal of Human Genetics, 87(6), 842-847. <a
href="http://dx.doi.org/10.1016/j.ajhg.2010.10.0
20">[More Information]</a>
Waddell, L., Kreissl, M., Kornberg, A.,
Kennedy, P., McLean, C., Labarre-Vila, A.,
Monnier, N., North, K., Clarke, N. (2010).
Evidence for a dominant negative disease
mechanism in cap myopathy due to TPM3.
Neuromuscular Disorders, 20(7), 464-466. <a
href="http://dx.doi.org/10.1016/j.nmd.2010.05.0
12">[More Information]</a>
Susman, R., Quijano-Roy, S., Yang, N., Webster,
R., Clarke, N., Dowling, J., Kennerson, M.,
Nicholson, G., Biancalana, V., Ilkovski, B.,
Vucic, S., North, K., et al (2010). Expanding the
clinical, pathological and MRI phenotype of
DNM2-related centronuclear myopathy.
Neuromuscular Disorders, 20(4), 229-237. <a
href="http://dx.doi.org/10.1016/j.nmd.2010.02.0
16">[More Information]</a>
Bray, P., Bundy, A., Ryan, M., North, K. (2010).
Feasibility of a computerized method to measure
quality of "everyday" life in children with
neuromuscular disorders. Physical and
Occupational Therapy in Pediatrics, 30(1),
43-53. <a
href="http://dx.doi.org/10.3109/0194263090329
4687">[More Information]</a>
Bray, P., Bundy, A., Ryan, M., North, K.,
Everett, A. (2010). Health-related Quality of Life
in Boys With Duchenne Muscular Dystrophy:
Agreement Between Parents and Their Sons.
Journal of Child Neurology, 25(10), 1188-1194.
<a
href="http://dx.doi.org/10.1177/0883073809357
624">[More Information]</a>
Vandebrouck, A., Domazetovska, A., Mokbel,
N., Cooper, S., Ilkovski, B., North, K. (2010). In
Vitro Analysis of Rod Composition and Actin
Dynamics in Inherited Myopathies. Journal of
Neuropathology and Experimental Neurology,
69(5), 429-441. <a
href="http://dx.doi.org/10.1097/NEN.0b013e318
1d892c6">[More Information]</a>
Rose, K., Burns, J., Wheeler, D., North, K.
(2010). Interventions for increasing ankle range
of motion in patients with neuromuscular disease
(Review). Cochrane Database of Systematic
Reviews, 17(2), 1-53. <a
href="http://dx.doi.org/10.1002/14651858.CD00
6973.pub2">[More Information]</a>
Lek, A., Lek, M., North, K., Cooper, S. (2010).
Phylogenetic analysis of ferlin genes reveals
ancient eukaryotic origins. BMC Evolutionary
Biology, 10(1), 231-1-231-15. <a
href="http://dx.doi.org/10.1186/1471-2148-10-2
31">[More Information]</a>
Lek, M., MacArthur, D., Yang, N., North, K.
(2010). Phylogenetic analysis of gene structure
and alternative splicing in alpha-actinins.
Molecular Biology and Evolution, 27(4),
773-780. <a
href="http://dx.doi.org/10.1093/molbev/msp268"
>[More Information]</a>
Chan, S., Seto, J., Houweling, P., Yang, N.,
North, K., Head, S. (2010). Properties of
extensor digitorum longus muscle and skinned
fibers from adult and aged male and female
Actn3 knockout mice. Muscle and Nerve, 43(1),
1-12. <a
href="http://dx.doi.org/10.1002/mus.21778">[M
ore Information]</a>
Clarke, N., Waddell, L., Cooper, S., Perry, M.,
Smith, R., Kornberg, A., Muntoni, F., Lillis, S.,
Straub, V., Bushby, K., North, K., et al (2010).
Recessive Mutations in RYR1 Are a Common
Cause
of Congenital Fiber Type Disproportion. Human
Mutation, 31(7), E1544-E1550. <a
href="http://dx.doi.org/10.1002/humu.21278">[
More Information]</a>
Evesson, F., Peat, R., Lek, A., Brilot-Turville, F.,
Lo, H., Dale, R., Parton, R., North, K., Cooper,
S. (2010). Reduced Plasma Membrane
Expression of Dysferlin
Mutants Is Attributed to Accelerated Endocytosis
via a Syntaxin-4-associated Pathway. Journal of
Biological Chemistry, 285(37), 28529-28539. <a
href="http://dx.doi.org/10.1074/jbc.M110.11112
0">[More Information]</a>
Rose, K., Raymond, J., Refshauge, K., North, K.,
Burns, J. (2010). Serial night casting increases
ankle dorsiflexion range in children and young
adults with Charcot-Marie-Tooth disease: a
randomised trial. Journal of Physiotherapy,
56(2), 113-119. <a
href="http://dx.doi.org/10.1016/S1836-9553(10)
70041-2">[More Information]</a>
Lek, M., Quinlan (nee Edwards), K., North, K.
(2010). The evolution of skeletal muscle
performance: gene duplication and divergence of
Publications for Kathryn North
human sarcomeric alpha-actinins. BioEssays,
32(1), 17-25. <a
href="http://dx.doi.org/10.1002/bies.200900110"
>[More Information]</a>
Moharir, M., London, K., Howman-Giles, R.,
North, K. (2010). Utility of positron emission
tomography for tumour surveillance in children
with neurofibromatosis type 1. European Journal
of Nuclear Medicine and Molecular Imaging,
37(7), 1309-1317. <a
href="http://dx.doi.org/10.1007/s00259-010-138
6-4">[More Information]</a>
Garton, F., Seto, J., North, K., Yang, N. (2010).
Validation of an automated computational
method for skeletal muscle fibre morphometry
analysis. Neuromuscular Disorders, 20(8),
540-547. <a
href="http://dx.doi.org/10.1016/j.nmd.2010.06.0
12">[More Information]</a>
Ferner, R., Huson, S., Kalamarides, M., Mautner,
V., McCormick, F., Morrison, H., Packer, R.,
Ramesh, V., Hunter-Schaedle, K., North, K., et
al (2010). What's new in neurofibromatosis?
Proceedings from the 2009 NF Conference: new
frontiers. American Journal of Medical Genetics.
Part A, 152(2), 269-283. <a
href="http://dx.doi.org/10.1002/ajmg.a.33189">[
More Information]</a>
2009
North, K. (2009). Adolescent medicine: towards
evidence based practice in a young specialty. In
Bennet, D; Towns, S; Elliot, E; Merrick, J.
(Eds.), Challenges in Adolescent Health: An
Australian Perspective, (pp. ix-xi). United States:
Nova Science Publishers.
Yang, N., Garton, F., North, K. (2009).
alpha-actinin-3 and performance. Medicine and
Sport Science, 54, 88-101. <a
href="http://dx.doi.org/10.1159/000235698">[M
ore Information]</a>
Clarke, N., Domazetovska, A., Waddell, L.,
Kornberg, A., McLean, C., North, K. (2009).
Cap disease due to mutation of the
beta-tropomyosin gene (TPM2). Neuromuscular
Disorders, 19(5), 348-351. <a
href="http://dx.doi.org/10.1016/j.nmd.2009.03.0
03">[More Information]</a>
Egan, J., Butler, T., Graf, F., Au, C., McMahon,
A., North, K., Winlaw, D. (2009). Dysfunction
induced by ischemia versus edema: does edema
matter? The Journal of Thoracic and
Cardiovascular Surgery, 138(1), 141-147. <a
href="http://dx.doi.org/10.1016/j.jtcvs.2008.12.0
08">[More Information]</a>
Bastiani, M., Liu, L., Hill, M., Jedrychowski, M.,
Nixon, S., Lo, H., Abankwa, D., Luetterforst, R.,
Fernandez-Rojo, M., Breen, M., North, K., et al
(2009). MURC/Cavin-4 and cavin family
members form tissue-specific caveolar
complexes. The Journal of Cell Biology, 185(7),
1259-1273. <a
href="http://dx.doi.org/10.1083/jcb.200903053">
[More Information]</a>
North, K. (2009). Muscle Disorders. In Jean
Aicardi (Eds.), Diseases of the Nervous System
in Childhood, (pp. 801-857). London: Wiley.
Liu, R., Ginn, S., Lek, M., North, K., Alexander,
I., Little, D., Schindeler, A. (2009). Myoblast
sensitivity and fibroblast insensitivity to
osteogenic conversion by BMP-2 correlates with
the expression of Bmpr-1 a. BMC
Musculoskeletal Disorders, 10, 51-1-51-12. <a
href="http://dx.doi.org/10.1186/1471-2474-10-5
1">[More Information]</a>
Egan, J., Butler, T., Cole, A., Abraham, S.,
Murala, J., Baines, D., Street, N., Thompson, L.,
Biecker, O., Dittmer, J., Cooper, S., Au, C.,
North, K., Winlaw, D. (2009). Myocardial
membrane injury in pediatric cardiac surgery: An
animal model. The Journal of Thoracic and
Cardiovascular Surgery, 137(5), 1154-1162. <a
href="http://dx.doi.org/10.1016/j.jtcvs.2008.10.0
09">[More Information]</a>
Rose, K., Raymond, J., Refshauge, K., North, K.,
Burns, J. (2009). Randomised trial of night
casting for ankle contracture in children with
Charcot-Marie-Tooth Disease. Journal of the
Peripheral Nervous System, 14(Supplement),
128-128.
Rose, K., Burns, J., North, K. (2009).
Relationship between foot strength and motor
function in preschool-age children.
Neuromuscular Disorders, 19(2), 104-107. <a
href="http://dx.doi.org/10.1016/j.nmd.2008.10.0
07">[More Information]</a>
Houweling, P., North, K. (2009). Sarcomeric
α-actinins and their role in human muscle
disease. Future Neurology, 4(6), 731-743. <a
href="http://dx.doi.org/10.2217/fnl.09.60">[Mor
e Information]</a>
2008
Chan, S., Seto, J., MacArthur, D., Yang, N.,
North, K., Head, S. (2008). A gene for speed:
contractile properties of isolated whole EDL
muscle from an alpha-actinin-3 knockout mouse.
American Journal of Physiology: Cell
Physiology, 295(4), C897-C904. <a
href="http://dx.doi.org/10.1152/ajpcell.00179.20
08">[More Information]</a>
MacArthur, D., Seto, J., Chan, S., Quinlan (nee
Edwards), K., Raftery, J., Turner, N., Nicholson,
M., Kee, A., Hardeman, E., Gunning, P., North,
K., et al (2008). An Actn3 knockout mouse
provides mechanistic insights into the association
Publications for Kathryn North
between alpha-actinin-3 deficiency and human
athletic performance. Human Molecular
Genetics, 17(8), 1076-1086. <a
href="http://dx.doi.org/10.1093/hmg/ddm380">[
More Information]</a>
Clement, E., Mercuri, E., Godfrey, C., Smith, J.,
Robb, S., Kinali, M., Straub, V., Bushby, K.,
Manzur, A., Talim, B., North, K., et al (2008).
Brain involvement in muscular dystrophies with
defective dystroglycan glycosylation. Annals of
Neurology, 64(5), 573-582. <a
href="http://dx.doi.org/10.1002/ana.21482">[Mo
re Information]</a>
Cairns, A., North, K. (2008). Cerebrovascular
dysplasia in neurofibromatosis
type 1. Journal of Neurology, Neurosurgery and
Psychiatry, 79, 1165-1170. <a
href="http://dx.doi.org/10.1136/jnnp.2007.13645
7">[More Information]</a>
Au, C., Butler, T., Egan, J., Cooper, S., Lo, H.,
Compton, A., North, K., Winlaw, D. (2008).
Changes in skeletal muscle expression of AQP1
and AQP4 in dystrophinopathy and
dysferlinopathy patients. Acta Neuropathologica,
116(3), 235-246. <a
href="http://dx.doi.org/10.1007/s00401-008-036
9-z">[More Information]</a>
Young, H., Barton, B., Waisbren, S., Dale, L.,
Ryan, M., Webster, R., North, K. (2008).
Cognitive and psychological profile of males
with Becker muscular dystrophy. Journal of
Child Neurology, 23(2), 155-162. <a
href="http://dx.doi.org/10.1177/0883073807307
975">[More Information]</a>
Pace, R., Peat, R., Baker, N., Zamurs, L.,
Morgelin, M., Irving, M., Adams, N., Bateman,
J., Mowat, D., Smith, N., North, K., et al (2008).
Collagen VI glycine mutations: perturbed
assembly and a spectrum of clinical severity.
Annals of Neurology, 64(3), 294-303. <a
href="http://dx.doi.org/10.1002/ana.21439">[Mo
re Information]</a>
Ryan, M., Sy, C., Rudge, S., Ellaway, C.,
Ketteridge, D., Roddick, L., Iannaccone, S.,
Kornberg, A., North, K. (2008). Dietary
L-Tyrosine Supplementation in Nemaline
Myopathy. Journal of Child Neurology, 23(6),
609-613. <a
href="http://dx.doi.org/10.1177/0883073807309
794">[More Information]</a>
Ilkovski, B., Mokbel, N., Lewis, R., Walker, K.,
Nowak, K., Domazetovska, A., Laing, N.,
Fowler, V., North, K., Cooper, S. (2008).
Disease Severity and Thin Filament Regulation
in M9R TPM3 Nemaline Myopathy. Journal of
Neuropathology and Experimental Neurology,
67(9), 867-877. <a
href="http://dx.doi.org/10.1097/NEN.0b013e318
183a44f">[More Information]</a>
Peat, R., Gecz, J., Fallon, J., Tarpey, P., Smith,
R., Futreal, A., Stratton, M., Lamande, S., Yang,
N., North, K. (2008). Exclusion of biglycan
mutations in a cohort of patients with
neuromuscular disorders. Neuromuscular
Disorders, 18(8), 606-609. <a
href="http://dx.doi.org/10.1016/j.nmd.2008.05.0
13">[More Information]</a>
Burns, J., Bray, P., Cross, L., North, K., Ouvrier,
R., Ryan, M. (2008). Hand involvement in
children with Charcot-Marie-Tooth disease type
1A. Neuromuscular Disorders, 18(12), 970-973.
<a
href="http://dx.doi.org/10.1016/j.nmd.2008.08.0
04">[More Information]</a>
Rose, K., Burns, J., Wheeler, D., North, K.
(2008). Interventions for increasing ankle range
of motion in patients with neuromuscular disease
(Protocol). Cochrane Database of Systematic
Reviews, cd 006973(1), 1-14. <a
href="http://dx.doi.org/10.1002/14651858.CD00
6973">[More Information]</a>
Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis,
M., Tay, V., Compton, A., Cairns, A., Corbett,
A., MacArthur, D., North, K., et al (2008).
Limb-girdle muscular dystrophy: Diagnostic
evaluation, frequency and clues to pathogenesis.
Neuromuscular Disorders, 18(1), 34-44. <a
href="http://dx.doi.org/10.1016/j.nmd.2007.08.0
09">[More Information]</a>
Seto, J., MacArthur, D., Chan, S., Quinlan (nee
Edwards), K., Cooney, G., Head, S., Yang, N.,
North, K. (2008). Metabolic and physiological
changes in Actn3 deficient mice: defining the
association between alpha -actinin-3 and human
athletic performance. New Directions in Biology
and Disease of Skeletal Muscle, The Westin at
Canal Place: The Westin at Canal Place.
Martin, P., Shelton, G., Dickinson, P., Sturges,
B., Xu, R., LeCouteur, R., Guo, L., Grahn, R.,
Lo, H., North, K., Malik, R., et al (2008).
Muscular dystrophy associated with
alpha-dystroglycan deficiency in Sphynx and
Devon Rex cats. Neuromuscular Disorders,
18(12), 942-52. <a
href="http://dx.doi.org/10.1016/j.nmd.2008.08.0
02">[More Information]</a>
Compton, A., Albrecht, D., Seto, J., Cooper, S.,
Ilkovski, B., Jones, K., Challis, D., Mowat, D.,
Ranscht, B., Bahlo, M., North, K., et al (2008).
Mutations in Contactin-1, a Neural Adhesion and
Neuromuscular Junction Protein, Cause a
Familial Form of Lethal Congenital Myopathy.
American Journal of Human Genetics, 83(6),
714-724. <a
href="http://dx.doi.org/10.1016/j.ajhg.2008.10.0
Publications for Kathryn North
22">[More Information]</a>
Clarke, N., Kolski, H., Dye, D., Lim, E., Smith,
R., Patel, R., Fahey, M., Bellance, R., Romero,
N., Johnson, E., North, K., et al (2008).
Mutations in TPM3 are a common cause of
congenital fiber type disproportion. Annals of
Neurology, 63(3), 329-337. <a
href="http://dx.doi.org/10.1002/ana.21308">[Mo
re Information]</a>
Egan, J., Butler, T., Cole, A., Aharonyan, A.,
Baines, D., Street, N., Navaratnam, M., Biecker,
O., Zazulak, C., Au, C., North, K., Winlaw, D.,
et al (2008). Myocardial ischemia is more
important than the effects of cardiopulmonary
bypass on myocardial water handling and
postoperative dysfunction: A pediatric animal
model. The Journal of Thoracic and
Cardiovascular Surgery, 136(5), 1265-1273. <a
href="http://dx.doi.org/10.1016/j.jtcvs.2008.04.0
02">[More Information]</a>
Rose, K., Burns, J., Ryan, M., Ouvrier, R.,
North, K. (2008). Reliability of quantifying foot
and ankle muscle strength in very young
children. Muscle and Nerve, 37(5), 626-631. <a
href="http://dx.doi.org/10.1002/mus.20961">[M
ore Information]</a>
North, K., Laing, N. (2008). Skeletal muscle
alpha-actin diseases. In Nigel G. Laing (Eds.),
The Sarcomere and Skeletal Muscle Disease,
(pp. 15-27). New York: Springer
Science+Business Media.
Peat, R., Smith, J., Compton, A., Baker, N.,
Pace, R., Burkin, D., Kaufman, S., Lamande, S.,
North, K. (2008). The diagnosis and etiology of
congenital muscular dystrophy. Neurology,
71(5), 312-321. <a
href="http://dx.doi.org/10.1212/01.wnl.0000284
605.27654.5a">[More Information]</a>
Amsili, S., Zer, H., Hinderlich, S., Krause, S.,
MacArthur, D., Becker-Cohen, M., North, K.,
Mitrani-Rosenbaum, S. (2008).
UDP-N-acetylglucosamine
2-epimerase/N-acetylmannosamine kinase
(GNE) binds to alpha-actinin 1: novel pathways
in skeletal muscle? PloS One, 3(6), e2477 1-e2477 - 9. <a
href="http://dx.doi.org/10.1371/journal.pone.000
2477">[More Information]</a>
North, K. (2008). What's new in congenital
myopathies? Neuromuscular Disorders, 18(6),
433-442. <a
href="http://dx.doi.org/10.1016/j.nmd.2008.04.0
02">[More Information]</a>
North, K. (2008). Why is alpha-Actinin-3
Deficiency So Common in the General
Population? The Evolution of Athletic
Performance. Twin Research and Human
Genetics, 11(4), 384-394. <a
href="http://dx.doi.org/10.1375/twin.11.4.384">[
More Information]</a>
2007
MacArthur, D., North, K. (2007). ACTN3: A
genetic influence on muscle function and athletic
performance. Exercise and Sport Sciences
Reviews, 35(1), 30-34. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17211191">[More Information]</a>
Watt, S., Shores, E., North, K. (2007). An
Examination of Lexical and Sublexical Reading
Skills in Children with Neurofibromatosis Type
1. Child Neuropsychology, 14(5), 401-418. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17963094">[More Information]</a>
Moran, C., Yang, N., Bailey, M., Tsiokanos, A.,
Jamurtas, A., MacArthur, D., North, K.,
Pitsiladis, Y., Wilson, R. (2007). Association
analysis of the ACTN3 R577X polymorphism
and complex quantitative body composition and
performance phenotypes in adolescent Greeks.
European Journal of Human Genetics, 15,
88-93.
Dulai, S., Briody, J., Schindeler, A., North, K.,
Cowell, C., Little, D. (2007). Decreased bone
mineral density in neurofibromatosis type 1:
results from a pediatric cohort. Journal of
Pediatric Orthopaedics, 27(4), 472-475. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17513973">[More Information]</a>
Eisenberg, I., Eran, A., Nishino, I., Moggio, M.,
Lamperti, C., Amato, A., Lidov, H., Kang, P.,
North, K., Mitrani-Rosenbaum, S., et al (2007).
Distinctive patterns of microRNA expression in
primary muscular disorders. Proceedings of the
National Academy of Sciences of the United
States of America (PNAS), 104(43),
17016-17021. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17942673">[More Information]</a>
Cooper, S., Kizana, E., Yates, J., Lo, H., Yang,
N., Wu, Z., Alexander, I., North, K. (2007).
Dystrophinopathy carrier determination and
detection of protein deficiencies in muscular
dystrophy using lentiviral MyoD-forced
myogenesis. Neuromuscular Disorders, 17(4),
276-284. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17303423">[More Information]</a>
MacArthur, D., North, K. (2007). Genes and
human elite athletic performance. In Pitsiladis
Publications for Kathryn North
Y; Bale J; Sharp C; Noakes T (Eds.), East
African running: towards a cross-disciplinary
perspective, (pp. 217-233). United States and
Canada: Routledge imprint of Taylor & Francis.
Domazetovska, A., Ilkovski, B., Kumar, V.,
Valova, V., Vandebrouck, A., Hutchinson, D.,
Robinson, P., Cooper, S., Sparrow, J., Peckham,
M., North, K. (2007). Intranuclear rod myopathy:
molecular pathogenesis and mechanisms of
weakness. Annals of Neurology, 62(6), 597-608.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17705262">[More Information]</a>
MacArthur, D., Seto, J., Raftery, J., Quinlan (nee
Edwards), K., Huttley, G., Hook, J., Lemckert,
F., Kee, A., Edwards, M., Berman, Y.,
Hardeman, E., Gunning, P., Yang, N., North, K.,
et al (2007). Loss of ACTN3 gene function alters
mouse muscle metabolism and shows evidence
of positive selection in humans. Nature Genetics,
39(10), 1261-1265. <a
href="http://dx.doi.org/10.1038/ng2122">[More
Information]</a>
Domazetovska, A., Ilkovski, B., Cooper, S.,
Ghoddusi, M., Hardeman, E., Minamide, L.,
Gunning, P., Bamburg, J., North, K. (2007).
Mechanisms underlying intranuclear rod
formation. Brain, 130(12), 3275-3284. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17928315">[More Information]</a>
Baker, N., Morgelin, M., Pace, R., Peat, R.,
Adams, N., Gardner, R., Rowland, L., Miller, G.,
De Jonghe, P., Ceulemans, B., North, K., et al
(2007). Molecular consequences of dominant
Bethlem myopathy collagen VI mutations.
Annals of Neurology, 62(4), 390-405. <a
href="http://dx.doi.org/10.1002/ana.21213">[Mo
re Information]</a>
North, K. (2007). Nemaline myopathy with
exclusively intranuclear rods and a novel
mutation in ACTA1 (Q139H). Neuropediatrics:
journal of pediatric neurobiology, neurology and
neurosurgery, 38(6), 282-286. <a
href="http://dx.doi.org/10.1055/s-2008-1065356
">[More Information]</a>
Young, H., Lowe, A., Fitzgerald, D., Seton, C.,
Waters, K., Kenny, E., Hynan, L., Iannaccone,
S., North, K., Ryan, M. (2007). Outcome of
noninvasive ventilation in children with
neuromuscular disease. Neurology, 68(3),
198-201. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17224573">[More Information]</a>
Godfrey, C., Clement, E., Mein, R., Brockington,
M., Smith, J., Talim, B., Straub, V., Robb, S.,
Quinlivan, R., Feng, L., North, K., et al (2007).
Refining genotype phenotype correlations in
muscular dystrophies with defective
glycosylation of dystroglycan. Brain, 130(10),
2725-2735. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17878207">[More Information]</a>
Hyman, S., Gill, D., Shores, E., Steinberg, A.,
North, K. (2007). T2-Hyperintensities in children
with neurofibromatosis type 1 and their
relationship to cognitive functioning. Journal of
Neurology, Neurosurgery and Psychiatry,
78(10), 1088-1091. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17299016">[More Information]</a>
Yang, N., Macarthur, D., Wolde, B., Onywera,
V., Boit, M., Lau, S., Wilson, R., Scott, R.,
Pitsiladis, Y., North, K. (2007). The ACTN3
R577X Polymorphism in East and West African
Athletes. Medicine and Science in Sports and
Exercise, 39(11), 1985-1988. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17986906">[More Information]</a>
Clarke, N., Ilkovski, B., Cooper, S., Valova, V.,
Robinson, P., Nonaka, I., Feng, J., Marston, S.,
North, K. (2007). The pathogenesis of
ACTA1-related congenital fiber type
disproportion. Annals of Neurology, 61(6),
552-561. <a
href="http://dx.doi.org/10.1002/ana.21112">[Mo
re Information]</a>
Barton, B., North, K. (2007). The self-concept of
children and adolescents with neurofibromatosis
type 1. Child: Care, Health and Development,
33(4), 401-408. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17584395">[More Information]</a>
Vlahovich, N., Schevzov, G., Nair-Shalliker, V.,
Ilkovski, B., Artap, S., Joya, J., Kee, A., North,
K., Gunning, P., Hardeman, E. (2007).
Tropomyosin 4 defines novel filaments in
skeletal muscle associated with muscle
remodelling/regeneration in normal and diseased
muscle. Cell Motility and the Cytoskeleton,
65(online 29 Oct 2007), 73-85. <a
href="http://dx.doi.org/10.1002/cm.20245">[Mo
re Information]</a>
Peat, R., Baker, N., Jones, K., North, K.,
Lamande, S. (2007). Variable penetrance of
COL6A1 null mutations: Implications for
prenatal diagnosis and genetic counselling in
Ullrich congenital muscular dystrophy families.
Neuromuscular Disorders, 17(7), 547-557. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
Publications for Kathryn North
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17537636">[More Information]</a>
2006
Clarke, N., Gonzalez, V., Kornberg, A., Shield,
L., Manson, J., Smith, R., Beggs, A., Arbuckle,
S., Dennett, X., Nonaka, I., North, K., et al
(2006). A clinical and pathological study of
congenital fibre type disproportion.
Neuromuscular Disorders, 16(9-10), 646-646.
MacArthur, D., Yang, N., Seto, J., Raftery, J.,
Kee, A., Hardeman, E., Gunning, P., North, K.
(2006). A gene for speed: the ACTN3 R577X
polymorphism influences muscle performance.
Neuromuscular Disorders, 16(Supplement 1),
S59-S59.
Hernandez-Deviez, D., Martin, S., Laval, S., Lo,
H., Cooper, S., North, K., Bushby, K., Parton, R.
(2006). Aberrant dysferlin trafficking in cells
lacking caveolin or expressing dystrophy
mutants of caveolin-3. Human Molecular
Genetics, 15(1), 129-142.
Gill, D., Hyman, S., Steinberg, A., North, K.
(2006). Age-related findings on MRI in
neurofibromatosis type 1. Pediatric Radiology:
roentgenology, nuclear medicine, ultrasonics,
CT, MRI, 36(10), 1048-1056. <a
href="http://dx.doi.org/10.1007/s00247-006-026
7-2">[More Information]</a>
Hutchinson, D., Charlton, A., Laing, N.,
Ilkovski, B., North, K. (2006). Autosomal
dominant nemaline myopathy with intranuclear
rods due to mutation of the skeletal muscle
ACTA1 gene: Clinical and pathological
variability within a kindred. Neuromuscular
Disorders, 16(2), 113-121.
Butler, T., Au, C., Yang, B., Egan, J., Tan, Y.,
Hardeman, E., North, K., Verkman, A., Winlaw,
D. (2006). Cardiac aquaporin expression in
humans, rats, and mice. American Journal of
Physiology: Heart and Circulatory Physiology,
291(2), H705-H713. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16582023">[More Information]</a>
North, K., Ryan, M. (2006). Congenital
Myopathies. In John H. Noseworthy (Eds.),
Neurological Therapeutics, Principles and
Practice, (pp. 2607-2618). United Kingdom:
Taylor & Francis.
Peat, R., Baker, N., Jones, K., Lamande, S.,
North, K. (2006). Defining the aetiology of
congenital muscular dystrophy in a large cohort.
XIth International Congress on Neuromuscular
Diseases, United Kingdom: Elsevier.
Ryan, M., Sy, C., Rudge, S., Ellaway, C.,
Ketteridge, D., Roddick, L., Iannaccone, S.,
Kornberg, A., Silberstein, J., North, K. (2006).
Dietary L-tyrosine supplementation in nemaline
myopathy. Neuromuscular Disorders, 16(S1),
S88-S88. <a
href="http://dx.doi.org/10.1016/j.nmd.2006.04.0
04">[More Information]</a>
Clarke, N., Ilkovski, B., Nonaka, I., Feng, J.,
Marston, S., North, K. (2006). Investigating the
pathogenesis of ACTA1-related congenital fibre
type disproportion. Neuromuscular Disorders,
16(Supplement 1), s61-s61.
Hyman, S., Shores, E., North, K. (2006).
Learning disabilities in children with
neurofibromatosis type 1: subtypes, cognitive
profile, and attention-deficit-hyperactivity
disorder. Developmental Medicine and Child
Neurology, 48(12), 973-977. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17109785">[More Information]</a>
Godfrey, C., Mein, R., Brockington, M., Elson,
E., Topaloglu, H., Smith, J., Escolar, D., Bertini,
E., Merlini, G., Mercuri, E., North, K., et al
(2006). Molecular genetic analysis of 6
glycosyltransferases in a large population of
dystroglycanopathy patients significantly widens
the spectrum of phenotypes resulting from
POMT1, POMGnT1 and Fukutin mutations. 11th
International Congress of the World Muscle
Society, United Kingdom: Elsevier.
Senderek, J., Krieger, M., Stendel, C., North, K.,
Muntoni, F., Quijano-Roy, S., Ebinger, F.,
Schroder, J., Voit, T., Weis, J. (2006). Mutations
in SIL1 cause Marinesco-Sjogren syndrome, a
cerebellar ataxia with cataract and myopathy.
11th International Congress of the World Muscle
Society, United Kingdom: Elsevier.
Egan, J., Butler, T., Au, C., Tan, Y., North, K.,
Winlaw, D. (2006). Myocardial water handling
and the role of aquaporins. Biochimica et
Biophysica Acta, 1758 (8), 1043-1052. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16876107">[More Information]</a>
Harper, C., North, K., Shingde, M., Spring, P.,
Wills, E., Dye, D., Laing, N. (2006). Myosin
storage (hyaline body) myopathy: A case report.
Neuromuscular Disorders, 16(12), 882-886. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17118657">[More Information]</a>
North, K., Cooper, S. (2006). Protein diagnosis
in the dystrophinopathies. In Jeffrey S.
Chamberlain, Thomas A. Rando (Eds.),
Duchenne muscular dystrophy: advances in
Therapeutics, (pp. 105-118). United States of
America: Taylor & Francis.
Publications for Kathryn North
Roberts, H., Day, B., Lo, H., McLean, C., North,
K. (2006). Rippling muscle disease. Journal of
Clinical Neuroscience, 13(5), 576-578.
Dominant collagen VI mutations are a common
cause of Ullrich congenital muscular dystrophy.
Human Molecular Genetics, 14(2), 279-293.
Clarke, N., Kidson, W., Quijano-Roy, S.,
Estournet, B., Ferreiro, A., Guicheney, P.,
Manson, J., Kornberg, A., Shield, L., North, K.
(2006). SEPN1: associated with congenital
fiber-type disproportion and insulin resistance.
Annals of Neurology, 59(3), 546-552. <a
href="http://dx.doi.org/10.1002/ana.20761">[Mo
re Information]</a>
MacArthur, D., North, K. (2005). Genes and
human elite athletic performance. Human
Genetics, 116(5), 331-339. <a
href="http://dx.doi.org/10.1007/s00439-005-126
1-8">[More Information]</a>
Tay, V., Chiotis, M., Reardon, K., Lo, H., North,
K. (2006). The clinical and molecular
characterisation of calpain deficiency in patients
with neuromuscular disorders. 11th International
Congress of the World Muscle Society, United
Kingdom: Elsevier.
Domazetovska, A., Ilkovski, B., Cooper, S.,
Valova, V., Lemckert, F., Hook, J., Hardeman,
E., Robinson, P., Yang, N., Gunning, P., North,
K. (2006). Unravelling the thin filament:
mechanisms of weakness in inherited muscle
disease. Neuromuscular Disorders, 16(Sup. 1),
S60-S61.
2005
Clarke, N., Smith, R., Bahlo, M., North, K.
(2005). A novel X-linked form of congenital
fiber-type disproportion. Annals of Neurology,
58(5), 767-772. <a
href="http://dx.doi.org/10.1002/ana.20644">[Mo
re Information]</a>
Corbett, M., Akkari, A., Domazetovska, A.,
Cooper, S., North, K., Laing, N., Gunning, P.,
Hardeman, E. (2005). An alphaTropomyosin
mutation alters dimer preference in nemaline
myopathy. Annals of Neurology, 57(1), 42-49. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15562513">[More Information]</a>
North, K., Ryan, M. (2005). Congenital
Myopathies. In Harvey S. Singer, Eric H.
Kossoff, Adam L. Hartman, Thomas O.
Crawford (Eds.), Treatment of Pediatric
Neurologic disorders, (pp. 185-190). United
States of America: Taylor & Francis.
Ilkovski, B., Clement, S., Sewry, C., North, K.,
Cooper, S. (2005). Defining alpha-skeletal and
alpha-cardiac actin expression in human heart
and skeletal muscle explains the absence of
cardiac involvement in ACTA1 nemaline
myopathy. Neuromuscular Disorders, 15(12),
829-835. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16288873">[More Information]</a>
Baker, N., Morgelin, M., Peat, R., Goemans, N.,
North, K., Bateman, J., Lamande, S. (2005).
Senderek, J., Krieger, M., Stendel, C.,
Bergmann, C., Moser, M., Breitbach-Faller, N.,
Rudnik-Schöneborn, S., Blaschek, A., Wolf, N.,
et, A., North, K., Smith, J. (2005). Mutations in
SIL1 cause Marinesco-Sjögren syndrome, a
cerebellar ataxia with cataract and myopathy.
Nature Genetics, 37(12), 1312-1314. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16282977">[More Information]</a>
Minkler, P., Kerner, J., North, K., Hoppel, C.
(2005). Quantitation of long-chain acylcarnitines
by HPLC/fluorescence detection: application to
plasma and tissue specimens from patients with
carnitine palmitoyltransferase-II deficiency.
Clinica Chimica Acta, 352(01-Feb), 81-92. <a
href="http://dx.doi.org/10.1016/j.cccn.2004.02.0
04">[More Information]</a>
Hyman, S., Shores, A., North, K. (2005). The
nature and frequency of cognitive deficits in
children with neurofibromatosis type 1.
Neurology, 65(7), 1037-1044. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16217056">[More Information]</a>
Compton, A., Cooper, S., Hill, P., Yang, N.,
Froehner, S., North, K. (2005). The
syntrophin-dystrobrevin subcomplex in human
neuromuscular disorders. Journal of
Neuropathology and Experimental Neurology,
64(4), 350-361. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15835271">[More Information]</a>
2004
MacArthur, D., North, K. (2004). A Gene For
Speed? The Evolution And Function Of
Alpha-Actinin-3. BioEssays, 26(7), 786-795. <a
href="http://dx.doi.org/10.1002/bies.20061">[M
ore Information]</a>
Laing, N., Clarke, N., Dye, D., Liyanage, K.,
Walker, K., Kobayashi, Y., Shimakawa, S.,
Hagiwara, T., Ouvrier, R., Sparrow, J., North,
K., et al (2004). Actin Mutations Are One Cause
Of Congenital Fibre Type Disproportion. Annals
of Neurology, 56(5), 689-694.
Allen, D., Hardeman, E., North, K., Alexander,
I., Cooper, S., Maxwell, A., Kizana, E.,
Ghoddusi, M. (2004). C2C12 Co-Culture On A
Publications for Kathryn North
Fibroblast Substratum Enables Sustained
Survival Of Contractile, Highly Differentiated
Myotubes With Peripheral Nuclei And Adult
Fast Myosin Expression. Cell Motility and the
Cytoskeleton, 58(3), 200-211. <a
href="http://dx.doi.org/10.1002/cm.20010">[Mo
re Information]</a>
2003
North, K. (2004). Congenital Myopathies. In
Andrew G. Engel, Clara Franzini-Armstrong
(Eds.), Myology: basic and clinical, 3rd Edition,
(pp. 1473-1533). New York , USA:
McGraw-Hill Professional Publishing.
Clarke, N., North, K. (2003). Congenital fiber
type disproportion - 30 years on. Journal of
Neuropathology and Experimental Neurology,
62(10), 977-989.
Favaloro, E., Zafer, M., Nair, S., Hertzberg, M.,
North, K. (2004). Evaluation Of Primary
Haemostasis In People With Neurofibromatosis
Type 1. Clinical and Laboratory Haematology,
26(5), 341-345.
North, K., Nowak, K., Cooper, S., Maxwell, A.,
Clement, S., Davies, K., Laing, N., Ilkovski, B.,
Domazetovska, A. (2004). Evidence For A
Dominant-Negative Effect In Acta1 Nemaline
Myopathy Caused By Abnormal Folding,
Aggregation And Altered Polymerization Of
Mutant Actin Isoforms. Human Molecular
Genetics, 13(16), 1727-1743.
North, K., Winlaw, D., Cooper, S., Au, C., Yang,
N., Lo, H., Compton, A., Wintour, M. (2004).
Expression Of Aquaporin 1 In Human Cardiac
And Skeletal Muscle. Journal of Molecular and
Cellular Cardiology, 36(5), 655-662.
Wallgren-Pettersson, C., Pelin, K., Nowak, K.,
Muntoni, F., Romero, N., Goebel, H., Laing, N.,
North, K., Beggs, A. (2004).
Genotype-Phenotype Correlations In Nemaline
Myopathy Caused By Mutations In The Genes
For Nebulin And Skeletal Muscle Alpha-Actin.
Neuromuscular Disorders, 14(8-9), 461-470.
Jungbluth, H., Sewry, C., Counsell, S., Allsop, J.,
Chattopadhyay, A., Mercuri, E., North, K.,
Laing, N., Bydder, G., Pelin, K., et al (2004).
Magnetic Resonance Imaging Of Muscle In
Nemaline Myopathy. Neuromuscular Disorders,
14, 779-784.
North, K., Flaherty, M., Thiagalingam, S.,
Billson, F. (2004). Neurofibromatosis Type 1
And Optic Pathway Gliomas: Follow-Up Of 54
Patients. Ophthalmology, 111(3), 568-577.
Yates, K., Festa, M., Gillis, J., Waters, K., North,
K. (2004). Outcome Of Children With
Neuromuscular Disease Admitted To Paediatric
Intensive Care. Archives of Disease in
Childhood, 89, 170-175.
North, K., Barton, B. (2004). Social Skills Of
Children With Neurofibromatosis Type 1.
Developmental Medicine and Child Neurology,
46(8), 553-563.
Yang, N., MacArthur, D., Gulbin, J., Hahn, A.,
Beggs, A., Easteal, S., North, K. (2003). ACTN3
genotype is associated with human elite athletic
performance. American Journal of Medical
Genetics. Part A, 73, 627-632.
Jones, K., North, K. (2003). Congenital Muscular
Dystrophies. In H. R. Jones, D. C. De Vivo, B.
T. Darras (Eds.), Neuromuscular Disorders Of
Infancy, Childhood, And Adolescence: A
Clinicians Approach, (pp. 633-647). Amsterdam:
Butterworth Heinemann.
North, K., Goebel, H. (2003). Congenital
Myopathies. In H. R. Jones, D. C. De Vivo, B.
T. Darras (Eds.), Neuromuscular Disorders Of
Infancy, Childhood, And Adolescence: A
Clinicians Approach, (pp. 601-632). Amsterdam:
Butterworth Heinemann.
Jones, K., Compton, A., Yang, N., Mills, M.,
Peters, M., Mowat, D., Kunkel, L., Froehner, S.,
North, K. (2003). Defiency of the syntrophins
and alpha-dystrobrevin in patients with inherited
myopathy. Neuromuscular Disorders, 13,
456-467.
Hyman, S., Gill, D., Shores, E., Steinberg, A.,
Joy, P., Gibikote, S., North, K. (2003). Natural
history of cognitive deficits and their relationship
to MRI T2-hyperintensities in NF1. Neurology,
60(7), 1139-1145.
Davis, M., Haan, E., Jungbluth, H., Sewry, C.,
North, K., Muntoni, C., Kuntzer, T., Lamont, P.,
Bankier, A., Tomlinson, P., et al (2003).
Principal mutation hotspot for central core
disease and related myopathies in the C-terminal
transmembrane region of the RYR1 gene.
Neuromuscular Disorders, 13(2), 151-157.
Cooper, S., Lo, S., North, K. (2003). Single
section Western blot. Improving the molecular
diagnosis of the muscular dystrophies.
Neurology, 61(1), 93-97.
Swoboda, K., North, K., Specht, L. (2003).
Spinal Muscular Atrophy. In Samuelss, Feske
(Eds.), Office Practice of Neurology, 2nd
Edition, (pp. 553-557). USA: Churchill
Livingstone.
Ratner, N., North, K. (2003). The central nervous
system in neurofibromatiosis type 1. In Gene S.
Fisch (Eds.), Genetics And Genomics Of
Neurobehavioral Disorders, (pp. 97-131). USA:
Humana Press.
2002
Publications for Kathryn North
North, K., Barton, B., Hyman, S. (2002).
Cognitive deficits in neurofibromatosis 1.
Journal of Child Neurology, 17(8), 605-612.
North, K., Gutmann, D., Rasmussen, S.,
Wolkenstein, P., MacCollin, M., Guha, A.,
Inskip, P., Poyhonen, M., Birch,, P., Friedman, J.
(2002). Gliomas presenting after age 10 in
individuals with neurofibromatosis type 1 (NF1).
Neurology, 59(5), 759-761.
North, K. (2002). Nemaline Myopathy. In R. A.
Pagon T. D. Bird, C. R. Dolan, G. L. Feldman,
R. J. Smith, N. Stevens (Eds.), Gene Reviews
(formerly Gene Clinics), (pp. 1-19). Seattle: BMJ
Publishing Group.
Young, H., Hyman, S., North, K. (2002).
Neurofibromatosis 1: clinical review and
exceptions to the rules. Journal of Child
Neurology, 17(8), 613-621.
Bonnemann, C., Wong, J., Jones, K., Lidov, H.,
Feener, C., Shapiro, F., Darras, B., Kunkel, L.,
North, K. (2002). Primary �-sarcoglycanopathy
(LGMD 2C): broadening of the mutational
spectrum guided by the immunohistochemical
profile. Neuromuscular Disorders, 12(3),
273-280.
Barton, B., North, K. (2002). Self-concept of
children with neurofibromatosis Type 1 (NF1).
2nd International Biennial conference, Online:
Self Research Centre.
2001
Corbett, M., Gunning, P., North, K., Hardeman,
E., Robinson, C., Dunglison,, G., Yang, N., Joya,
J., Stewart, A., Schnell, C. (2001). A mutation in
alpha-tropomyosin slow affects muscle strength,
maturation and hypertrophy in a mouse model
for nemaline myopathy. Human Molecular
Genetics, 10, 317-328.
Jones, K., North, K., He,, Y., Vignier, N.,
Morgan, G., Chevallay,, M., Barois, A.,
Estournet-Mathiaud,, B., Hori, H., Mizuta,, T., et
al (2001). Congenital muscular dystrophy with
primary partial laminin alpha-2 chain deficiency:
Molecular study. Neurology, 57, 1319-1322.
Weinberger, R., North, K., Mills,, M., Yang, N.,
Vander, W., Beggs, A., Easteal, S. (2001).
Differential expression of the actin-binding
proteins, alpha-actinin-2 and -3, in different
species: implications for the evolution of
functional redundancy. Human Molecular
Genetics, 10, 1335-1346.
Ilkovski, B., Ryan, M., Gunning, P., Hardeman,
E., North, K., Cooper, S., Nowak, K., Yang, N.,
Schnell, C., Durling, H., et al (2001). Nemaline
myopathy caused by mutations in the muscle
alpha-skeletal-acting gene. American Journal of
Human Genetics, 68, 1333-1343.
Ryan, M., North, K., Schnell, C., Strickland, C.,
Shield, L., Morgan, G., Iannaccone, S., Laing,
N., Beggs, A. (2001). Nemaline Myopathy: A
clinical study of 143 cases. Annals of Neurology,
50, 312-320.
Jones, K., Ouvrier, R., North, K., Morgan, G.,
Johnston, H., Tobias, V., Wilkinson,, I. (2001).
The expanding phenotype of laminin alpha-2
chain (merosin) abnormalities: case series and
review. Journal of Medical Genetics, 38,
649-657.
North, K., Ng,, Y. (2001). Visual-evoked
potentials in the assessment of optic gliomas.
Pediatric Neurology, 24, 44-48.