Genes and human elite athletic performanceMACARTHUR, Daniel G; NORTH, Kathryn N.Human genetics. 2005, Vol 116, Num 5, pp 331-339, issn 0340-6717, 9 p.Article

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1HYMAN, Shelley L; SHORES, Arthur; NORTH, Kathryn N et al.Neurology. 2005, Vol 65, Num 7, pp 1037-1044, issn 0028-3878, 8 p.Article

Congenital fiber type disproportion: 30 years onCLARKE, Nigel F; NORTH, Kathryn N.Journal of neuropathology and experimental neurology. 2003, Vol 62, Num 10, pp 977-989, issn 0022-3069, 13 p.Article

Visual-evoked potentials in the assessment of optic gliomasNG, Yu-Tze; NORTH, Kathryn N.Pediatric neurology. 2001, Vol 24, Num 1, pp 44-48, issn 0887-8994Article

Single section Western blot: Improving the molecular diagnosis of the muscular dystrophiesCOOPER, Sandra T; LO, Harriet P; NORTH, Kathryn N et al.Neurology. 2003, Vol 61, Num 1, pp 93-97, issn 0028-3878, 5 p.Article

T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioningHYMAN, Shelley L; GILL, Deepak S; ARTHUR SHORES, Edwin et al.Journal of neurology, neurosurgery and psychiatry. 2007, Vol 78, Num 10, pp 1088-1091, issn 0022-3050, 4 p.Article

Social functioning in adults with neurofibromatosis type 1PRIDE, Natalie A; CRAWFORD, Hilda; PAYNE, Jonathan M et al.Research in developmental disabilities (Print). 2013, Vol 34, Num 10, pp 3393-3399, issn 0891-4222, 7 p.Article

A procedure for the computerized analysis of cleft palate speech transcriptionFITZSIMONS, David A; JONES, David L; BARTON, Belinda et al.Clinical linguistics & phonetics. 2012, Vol 26, Num 1, pp 18-38, issn 0269-9206, 21 p.Article

USING COMPLEMENTARY DNA FROM MyoD-TRANSDUCED FIBROBLASTS TO SEQUENCE LARGE MUSCLE GENESWADDELL, Leigh B; MONNIER, Nicole; COOPER, Sandra T et al.Muscle & nerve. 2011, Vol 44, Num 2, pp 280-282, issn 0148-639X, 3 p.Article

In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited MyopathiesVANDEBROUCK, Aurélie; DOMAZETOVSKA, Ana; MOKBEL, Nancy et al.Journal of neuropathology and experimental neurology. 2010, Vol 69, Num 5, pp 429-441, issn 0022-3069, 13 p.Article

Brain structure and function in neurofibromatosis type 1: current concepts and future directionsPAYNE, Jonathan M; MOHARIR, Mahendranath D; WEBSTER, Richard et al.Journal of neurology, neurosurgery and psychiatry. 2010, Vol 81, Num 3, pp 304-309, issn 0022-3050, 6 p.Article

RELIABILITY OF QUANTIFYING FOOT AND ANKLE MUSCLE STRENGTH IN VERY YOUNG CHILDRENROSE, Kristy J; BURNS, Joshua; RYAN, Monique M et al.Muscle & nerve. 2008, Vol 37, Num 5, pp 626-631, issn 0148-639X, 6 p.Article

A novel X-linked form of congenital fiber-type disproportionCLARKE, Nigel F; SMITH, Robert L. L; BAHIO, Melanie et al.Annals of neurology. 2005, Vol 58, Num 5, pp 767-772, issn 0364-5134, 6 p.Article

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cellsOATES, Emily C; REDDEL, Stephen; RODRIGUEZ, Michael L et al.Brain. 2012, Vol 135, pp 1714-1723, issn 0006-8950, 10 p., 6Article

PROPERTIES OF EXTENSOR DIGITORUM LONGUS MUSCLE AND SKINNED FIBERS FROM ADULT AND AGED MALE AND FEMALE ACTN3 KNOCKOUT MICECHAN, Stephen; SETO, Jane T; HOUWELING, Peter J et al.Muscle & nerve. 2011, Vol 43, Num 1, pp 37-48, issn 0148-639X, 12 p.Article

Mutations in TPM3 Are a Common Cause of Congenital Fiber Type DisproportionCLARKE, Nigel F; KOLSKI, Hanna; LABARRE-VILA, Annick et al.Annals of neurology. 2008, Vol 63, Num 3, pp 329-337, issn 0364-5134, 9 p.Article

Decreased bone mineral density in neurofibromatosis type 1 : Results from a pediatric cohortDULAI, Sukhdeep; BRIODY, Julie; SCHINDELER, Aaron et al.Journal of pediatric orthopedics. 2007, Vol 27, Num 4, pp 472-475, issn 0271-6798, 4 p.Article

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathyNGUYEN, Mai-Anh T; JOYA, Josephine E; NORTH, Kathryn N et al.Brain. 2011, Vol 134, pp 3516-3529, issn 0006-8950, 14 p., 12Article

α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleQUINLAN, Kate G. R; SETO, Jane T; COONEY, Gregory J et al.Human molecular genetics (Print). 2010, Vol 19, Num 7, pp 1335-1346, issn 0964-6906, 12 p.Article

Collagen VI Glycine Mutations : Perturbed Assembly and a Spectrum of Clinical SeverityPACE, Rishika A; PEAT, Rachel A; LAMONT, Phillipa J et al.Annals of neurology. 2008, Vol 64, Num 3, pp 294-303, issn 0364-5134, 10 p.Article

Molecular consequences of dominant bethlem myopathy collagen VI mutationsBAKER, Naomi L; MÖRGELIN, Matthias; HANNIBAL, Mark C et al.Annals of neurology. 2007, Vol 62, Num 4, pp 390-405, issn 0364-5134, 16 p.Article

The syntrophin-dystrobrevin subcomplex in human neuromuscular disordersCOMPTON, Alison G; COOPER, Sandra T; HILL, Penelope M et al.Journal of neuropathology and experimental neurology. 2005, Vol 64, Num 4, pp 350-361, issn 0022-3069, 12 p.Article

Fetal akinesia: review of the genetics of the neuromuscular causesRAVENSCROFT, Gianina; SOLLIS, Elliot; CHARLES, Adrian K et al.Journal of medical genetics. 2011, Vol 48, Num 12, pp 793-801, issn 0022-2593, 9 p.Article

Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction : A pediatric animal modelEGAN, Jonathan R; BUTLER, Tanya L; YEE MUN TAN et al.Journal of thoracic and cardiovascular surgery (Print). 2008, Vol 136, Num 5, pp 1265-1273, issn 0022-5223, 9 p.Article

Nemaline myopathy : A clinical study of 143 casesRYAN, Monique M; SCHNELL, Christina; STRICKLAND, Corinne D et al.Annals of neurology. 2001, Vol 50, Num 3, pp 312-320, issn 0364-5134Article