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    Article

    Clinical and genetic features of patients suffering from CMT4J

    Mutations in the FIG4 gene have been identified in various diseases, including amyotrophic lateral sclerosis, Parkinson’s disease, and Charcot–Marie–Tooth 4 J (CMT4J), with a wide range of phenotypic manifestatio...

    Sadia Beloribi-Djefaflia, Raul Juntas Morales, Farzad Fatehi… in Journal of Neurology (2024)

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    Article

    French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

    Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patie...

    Shahram Attarian, Sadia Beloribi-Djefaflia, Rafaelle Bernard… in Journal of Neurology (2024)