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Neuromuscular Disorders : NMD|January 27, 2023
Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European surveyJordi Díaz-Manera, J Andoni Urtizberea, Carina Schey, et al.
Neuromuscular Disorders : NMD|February 17, 2025
VMA21-X-linked myopathy in Peru: characterization of three familiesPeggy Martínez-Esteban, Milagros Sotelo-Muñoz, Gianmarco Severa, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effectValérie Delague, Eliane Chouery, Sandra Corbani, et al.
Human Biology|March 11, 2005
A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 geneAna María Cobo, Ametz Sáenz, Juan José Poza, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE MyopathyMathieu Cerino, Svetlana Gorokhova, Anthony Béhin, et al.
Neuromuscular Disorders : NMD|February 24, 2009
Phenotypic variability in giant axonal neuropathyMeriem Tazir, Sonia Nouioua, Laurent Magy, et al.
European Journal of Medical Genetics|August 27, 2022
STAC3 related congenital myopathy: A case series of seven Comorian patientsMarie Gromand, Paul Gueguen, Anne Pervillé, et al.
Muscle & Nerve|September 8, 2018
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical descriptionHadil Alrohaif, Oksana Pogoryelova, Abdullah Al-Ajmi, et al.
Neuromuscular Disorders : NMD|September 17, 2011
A novel CRYAB mutation resulting in multisystemic diseaseSabrina Sacconi, Léonard Féasson, Jean Christophe Antoine, et al.
Clinical Genetics|March 18, 2021
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseasesAlexandra Salvi, Cristina Skrypnyk, Nathalie Da Silva, et al.
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