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Annals of Neurology
|
April 14, 2016
Mutation-specific effects on thin filament length in thin filament myopathy
Josine M de Winter, Barbara Joureau, Eun-Jeong Lee, et al.
Acta Neuropathologica
|
April 3, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Alexander Kushnir, Joshua J Todd, Jessica W Witherspoon, et al.
JCI Insight
|
July 22, 2021
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Danique Beijer, Hong Joo Kim, Lin Guo, et al.
Neurology
|
July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Karlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
Brain : a Journal of Neurology
|
September 13, 2023
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
Richard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, et al.
Journal of Neuromuscular Diseases
|
February 6, 2026
A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study
Nicol C Voermans, Jeffrey M Statland, Lawrence J Hayward, et al.
Neuromuscular Disorders : NMD
|
May 1, 2013
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
N Dlamini, N C Voermans, S Lillis, et al.
American Journal of Medical Genetics. Part A
|
August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Brain : a Journal of Neurology
|
February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Joery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.
BMC Neurology
|
August 13, 2021
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study
Karlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Page
of 35
Search research articles
Search
Showing results (321-330 of 344) with videos related to
Sort By:
Page
of 35
Annals of Neurology
|
April 14, 2016
Mutation-specific effects on thin filament length in thin filament myopathy
Josine M de Winter, Barbara Joureau, Eun-Jeong Lee, et al.
Acta Neuropathologica
|
April 3, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Alexander Kushnir, Joshua J Todd, Jessica W Witherspoon, et al.
JCI Insight
|
July 22, 2021
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Danique Beijer, Hong Joo Kim, Lin Guo, et al.
Neurology
|
July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Karlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
Brain : a Journal of Neurology
|
September 13, 2023
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
Richard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, et al.
Journal of Neuromuscular Diseases
|
February 6, 2026
A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study
Nicol C Voermans, Jeffrey M Statland, Lawrence J Hayward, et al.
Neuromuscular Disorders : NMD
|
May 1, 2013
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
N Dlamini, N C Voermans, S Lillis, et al.
American Journal of Medical Genetics. Part A
|
August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Brain : a Journal of Neurology
|
February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Joery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.
BMC Neurology
|
August 13, 2021
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study
Karlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Page
of 35