Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene by E. L. Dadali, T. V. Markova, O. P. Ryzhkova

Get full text

Clinical and genetic characteristics of congenital muscular dystrophies (part 2) by P. A. Chausova, O. P. Ryzhkova, A. V. Polyakov

Get full text

Clinical and genetic characteristics of congenital muscular dystrophies (Part 1) by P. A. Chausova, O. P. Ryzhkova, A. V. Polyakov

Get full text

Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy by V. P. Fedotov, O. P. Ryzhkova, A. V. Polyakov

Get full text

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

Get full text

Change in the spectrum of detected mutations in the <I>DMD</I> gene depending on the methodological capabilities of the laboratory by E. V. Zinina, M. V. Bulakh, O. P. Ryzhkova, O. A. Shchagina, A. V. Polyakov

Get full text

Possibility of exon skipping therapy for Duchenne muscular dystrophy in Russian patients: present and future by E. V. Zinina, M. V. Bulakh, O. P. Ryzhkova, O. A. Shchagina, A. V. Polyakov

Get full text

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

Get full text

POLR3A-related hypomyelinating leukodystrophy: case report and literature review by A. F. Murtazina, T. V. Markova, A. A. Orlova, O. P. Ryzhkova, O. A. Shchagina, E. L. Dadali

Get full text

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

Get full text

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

Get full text

Diagnostic utility of exome sequencing for inherited peripheral neuropathies by O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov

Get full text

Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients by E. L. Dadali, T. V. Markova, F. M. Bostanova, A. S. Kuchina, L. A. Bessonova, E. A. Melnik, V. V. Zabnenkova, O. P. Ryzhkova, O. E. Agranovich

Get full text

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

Get full text

VEXAS syndrome: on the threshold of changing perceptions of known diseases by B. D. Chaltsev, A. V. Torgashina, A. M. Lila, T. V. Markova, S. I. Kutsev, O. P. Ryzhkova, A. A. Orlova, A. V. Kokhno, T. I. Solovyova, V. N. Dvirnyk, A. M. Kovrigina, T. N. Obukhova, E. N. Parovichnikova, E. L. Nasonov

Get full text

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

Get full text