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Juvenile amyotrophic lateral sclerosis type 4: case report and review by G. E. Rudenskaya, S. S. Nikitin, O. L. Shatokhina, O. A. Shchagina

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Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients by E. L. Dadali, F. A. Konovalov, I. A. Akimova, A. A. Sharkov, G. E. Rudenskaya, S. V. Mikhaylova, S. A. Korostelev

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Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients by E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova

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A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy by S. A. Kurbatov, T. B. Milovidova, V. P. Fedotov, A. F. Murtazina, G. E. Rudenskaya, O. A. Shchagina, A. V. Polyakov

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Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia by A. F. Murtazina, O. A. Shchagina, T. B. Milovidova, E. L. Dadali, G. E. Rudenskaya, S. A. Kurbatov, T. V. Fedotova, S. S. Nikitin, P. A. Sparber, M. D. Orlova, A. V. Polyakov

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Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series by A. F. Murtazina, P. N. Tsabay, G. E. Rudenskaya, L. A. Bessonova, F. M. Bostanova, D. M. Guseva, I. V. Sharkova, O. A. Shchagina, A. A. Orlova, O. P. Ryzhkova, T. V. Markova, A. S. Kuchina, S. S. Nikitin, E. L. Dadali

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