Elevation of transaminases. What if not the liver? by I. V. Sharkova

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Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation by I. V. Sharkova, E. L. Dadali

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Clinical and genetic characteristics and an algorithm for the differential diagnosis of progressive muscular dystrophies that manifest after a period of normal motor development by I. V. Sharkova, E. L. Dadali

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Retinal abiotrophy in mitochondrial pathology: NARP sindrome (a clinical case) by O. V. Khlebnikova, I. V. Sharkova

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Diagnostic criteria for spinal muscular atrophy 5q by I. V. Sharkova, E. L. Dadali, S. S. Nikitin

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New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2 by E. L. Dadali, I. V. Sharkova, S. S. Nikitin, F. A. Konovalov

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Gillespiе syndrome, caused by previously undescribed mutation in the gene <i>ITPR1<i> by I. V. Sharkova, I. A. Akimova, O. V. Khlebnikova, E. L. Dadali

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Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types by I. V. Sharkova, E. L. Dadali, O. P. Ryzhkova, V. N. Evdokimenkov

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Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy by I. V. Sharkova, E. L. Dadali, I. V. Ugarov, O. P. Ryzhkova, A. V. Polyakov

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HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES by E. L. Dadali, A. A. Sharkov, I. V. Sharkova, I. V. Kanivets, F. A. Konovalov, I. A. Akimova

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Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the <i>MYH8</i> gene by I. V. Sharkova, S. S. Nikitin, T. V. Markova, A. E. Voskanyan, E. A. Melnik, O. A. Shchagina, E. L. Dadali

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Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients by E. L. Dadali, S. S. Nikitin, S. A. Kurbatov, A. F. Murtazina, I. V. Sharkova, O. A. Shchagina, F. A. Konovalov

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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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Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN... by A. O. Borovikov, I. V. Sharkova, O. P. Ryzhkova, A. L. Chukhrova, O. A. Schagina, T. V. Markova, E. L. Dadali

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Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene by E. L. Dadali, T. V. Markova, E. A. Melnik, S. S. Nikitin, I. V. Sharkova, O. V. Khalanskaya, L. A. Bessonov, E. A. Shestopalova, O. P. Ryzhkova, S. I. Trofimova, O. E. Agranovich, S. I. Kutsev

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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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