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Human Genetics|September 22, 2022
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophyMyriam Vezain, Christel Thauvin-Robinet, Yoann Vial, et al.Brain : a Journal of Neurology|July 24, 2019
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathyDanique Beijer, Tine Deconinck, Jan L De Bleecker, et al.Journal of Neurology|March 3, 2004
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desminAyush Dagvadorj, Montse Olivé, Jean-Andoni Urtizberea, et al.Neurology|January 13, 2019
Leukoencephalopathy due to variants in <i>GFPT1-</i>associated congenital myasthenic syndromeGuy Helman, Suvasini Sharma, Joanna Crawford, et al.American Journal of Medical Genetics. Part A|February 26, 2004
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in CroatiaNina Canki-Klain, Astrid Milic, Biserka Kovac, et al.Archives of Neurology|August 19, 2007
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypesKarine Nguyen, Guillaume Bassez, Martin Krahn, et al.Human Mutation|January 4, 2012
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin geneGaelle Blandin, Christophe Beroud, Veronique Labelle, et al.Annals of Neurology|March 23, 2019
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutationsMarco Savarese, Johanna Palmio, Juan José Poza, et al.Muscle & Nerve|April 23, 2015
Toward an objective measure of functional disability in dysferlinopathyLisanne Woudt, Gabriella A Di Capua, Martin Krahn, et al.Neurogenetics|August 18, 2021
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective studyAndoni Echaniz-Laguna, Cecilia Altuzarra, Alain Verloes, et al.Pageof 9