Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Nigel F Clarke

Showing results (41-50 of 67) with videos related to

Pageof 7
Sort By:
Journal of Neuropathology and Experimental Neurology|March 18, 2011
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretchLeigh B Waddell, Frances A Lemckert, Xi F Zheng, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Annals of Neurology|January 13, 2018
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)Barbara Joureau, Josine Marieke de Winter, Stefan Conijn, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
Neuromuscular Disorders : NMD|March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 CasesJaya Punetha, Akanchha Kesari, Prech Uapinyoying, et al.
Pageof 7

Showing results (41-50 of 67) with videos related to

Sort By:
Pageof 7
Journal of Neuropathology and Experimental Neurology|March 18, 2011
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretchLeigh B Waddell, Frances A Lemckert, Xi F Zheng, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Annals of Neurology|January 13, 2018
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)Barbara Joureau, Josine Marieke de Winter, Stefan Conijn, et al.
Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
Neuromuscular Disorders : NMD|March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 CasesJaya Punetha, Akanchha Kesari, Prech Uapinyoying, et al.
Pageof 7