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1

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

Published 2022-09-01

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2

Diversity of VCP-related phenotypes: case report and literature review by G. E. Rudenskaya, O. L. Mironovich, A. F. Murtazina, O. A. Shchagina

Published 2021-04-01

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3

Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene by E. L. Dadali, A. O. Borovikov, O. A. Shchagina, O. L. Mironovich

Published 2020-12-01

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4

Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958) by E. L. Dadali, T. V. Markova, O. A. Levchenko, A. L. Chukhrova, O. A. Shchagina

Published 2020-06-01

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5

Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603) by D. M. Guseva, T. V. Markova, L. A. Bessonova, S. S. Nikitin, E. L. Dadali, O. A. Shchagina

Published 2021-04-01

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6

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

Published 2021-12-01

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7

Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the NRP2 Gene by T. V. Markova, V. M. Kenis, O. L. Mironovich, O. A. Shchagina, T. S. Nagornova, E. V. Melchenko, E. L. Dadali

Published 2020-09-01

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8

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

Published 2017-11-01

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9

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy by P. A. Chausova, O. P. Ryzhkova, G. E. Rudenskaya, V. B. Chernykh, O. A. Shchagina, A. V. Polyakov

Published 2021-10-01

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10

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

Published 2018-07-01

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11

Autosomal dominant intellectual disability associated with the MED13L gene by O. A. Levchenko, G. E. Rudenskaya, T. V. Markova, L. A. Bessonova, A. V. Marakhonov, S. E. Nagieva, O. A. Shchagina, A. V. Lavrov

Published 2022-04-01

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12

Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470) by E. I. Dadali, I. A. Akimova, N. A. Semenova, D. M. Guseva, O. A. Shchagina, A. I. Chukhrova, I. V. Kanivets, S. A. Korostelev

Published 2019-07-01

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13

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

Published 2020-12-01

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14

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

Published 2020-08-01

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15

Myotonia and myotonic discharges of dystrophic myotonia type 1 at the first decade onset: a literature review and data of the case series by S. A. Kurbatov, V. M. Kenis, M. V. Savina, I. S. Kleimenova, N. S. Priymak, Yu. V. Kryukov, A. A. Kokorina, N. V. Ryadninskaya, I. A. Kuznetsova, O. A. Shchagina, A. V. Poliakov

Published 2022-06-01

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16

Genetic Landscape of Nephropathic Cystinosis in Russian Children by K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin

Published 2022-04-01

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Article

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

Diversity of <i>VCP</i>-related phenotypes: case report and literature review by G. E. Rudenskaya, O. L. Mironovich, A. F. Murtazina, O. A. Shchagina

Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene by E. L. Dadali, A. O. Borovikov, O. A. Shchagina, O. L. Mironovich

Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958) by E. L. Dadali, T. V. Markova, O. A. Levchenko, A. L. Chukhrova, O. A. Shchagina

Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603) by D. M. Guseva, T. V. Markova, L. A. Bessonova, S. S. Nikitin, E. L. Dadali, O. A. Shchagina

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

Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the <i>NRP2</i> Gene by T. V. Markova, V. M. Kenis, O. L. Mironovich, O. A. Shchagina, T. S. Nagornova, E. V. Melchenko, E. L. Dadali

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

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy by P. A. Chausova, O. P. Ryzhkova, G. E. Rudenskaya, V. B. Chernykh, O. A. Shchagina, A. V. Polyakov

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

Autosomal dominant intellectual disability associated with the MED13L gene by O. A. Levchenko, G. E. Rudenskaya, T. V. Markova, L. A. Bessonova, A. V. Marakhonov, S. E. Nagieva, O. A. Shchagina, A. V. Lavrov

Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470) by E. I. Dadali, I. A. Akimova, N. A. Semenova, D. M. Guseva, O. A. Shchagina, A. I. Chukhrova, I. V. Kanivets, S. A. Korostelev

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

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

Genetic Landscape of Nephropathic Cystinosis in Russian Children by K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin

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

Diversity of <i>VCP</i>-related phenotypes: case report and literature review by G. E. Rudenskaya, O. L. Mironovich, A. F. Murtazina, O. A. Shchagina

Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene by E. L. Dadali, A. O. Borovikov, O. A. Shchagina, O. L. Mironovich

Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958) by E. L. Dadali, T. V. Markova, O. A. Levchenko, A. L. Chukhrova, O. A. Shchagina

Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603) by D. M. Guseva, T. V. Markova, L. A. Bessonova, S. S. Nikitin, E. L. Dadali, O. A. Shchagina

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

Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the <i>NRP2</i> Gene by T. V. Markova, V. M. Kenis, O. L. Mironovich, O. A. Shchagina, T. S. Nagornova, E. V. Melchenko, E. L. Dadali

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

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy by P. A. Chausova, O. P. Ryzhkova, G. E. Rudenskaya, V. B. Chernykh, O. A. Shchagina, A. V. Polyakov

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

Autosomal dominant intellectual disability associated with the MED13L gene by O. A. Levchenko, G. E. Rudenskaya, T. V. Markova, L. A. Bessonova, A. V. Marakhonov, S. E. Nagieva, O. A. Shchagina, A. V. Lavrov

Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470) by E. I. Dadali, I. A. Akimova, N. A. Semenova, D. M. Guseva, O. A. Shchagina, A. I. Chukhrova, I. V. Kanivets, S. A. Korostelev

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

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

Genetic Landscape of Nephropathic Cystinosis in Russian Children by K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin

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