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Employment (1)

Research Centre for Medical Genetics: Moscow, RU

1990-11-08 to present | Chief Researcher (Genetic Counseling Department )
Employment
Source: Self-asserted source
Galina Rudenskaya

Education and qualifications (1)

I.M. Sechenov First Moscow State Medical University: Moscow, Moscow , RU

1965-09-01 to 1971-06-18 | MD (Medical)
Education
Source: Self-asserted source
Galina Rudenskaya

Works (34)

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus

Clinical Genetics
2025-02-04 | Journal article
Contributors: Kristina Mikhalchuk; Viktoria Zabnenkova; Svetlana Braslavskaya; Alena Chukhrova; Nina Ryadninskaya; Elena Dadaly; Galina Rudenskaya; Inna Sharkova; Inga Anisimova; Ludmila Bessonova et al.
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Crossref

A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs

S.S. Korsakov Journal of Neurology and Psychiatry
2024 | Journal article
Contributors: G.E. Rudenskaya; F.M. Bostanova; A.S. Medvedeva; E.E. Lotnik; P.A. Chausova; O.A. Shchagina
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Crossref

Developmental and epileptic encephalopathy produced by the ATP1A2 mutation

S.S. Korsakov Journal of Neurology and Psychiatry
2024 | Journal article
Contributors: G.E. Rudenskaya; D.M. Guseva; O.L. Shatokhina; V.A. Kadnikova; A.Yu. Filatova; M.Yu. Skoblov; O.P. Ryzhkova
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Crossref

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova
2023 | Journal article
Contributors: G.E. Rudenskaya; A.S. Kuchina; V.A. Kadnikova; O.P. Ryzhkova
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Crossref

Early-onset familial Alzheimer’s disease with spastic paraparesis associated with PSEN1 gene

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova
2023 | Journal article
Contributors: G.E. Rudenskaya; M.S. Petukhova; V.V. Zabnenkova; T.B. Cherevatova; O.P. Ryzhkova
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Crossref

Gerstmann—Sträussler disease: a familial case with common PRNP mutation and atypical features

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova
2023 | Journal article
Contributors: G.E. Rudenskaya; F.A. Konovalov; S.N. Illarioshkin; O.A. Shchagina
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Crossref

Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova
2022 | Journal article
Contributors: G.E. Rudenskaya; E.A. Shestopalova; V.A. Kadnikova; O.A. Shchagina
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Crossref

Juvenile amyotrophic lateral sclerosis type 4: case report and review

Neuromuscular Diseases
2022-09-21 | Journal article
Contributors: G. E. Rudenskaya; S. S. Nikitin; O. L. Shatokhina; O. A. Shchagina
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Crossref

Autosomal dominant intellectual disability associated with the MED13L gene

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
2022-04-08 | Journal article
Contributors: O. A. Levchenko; G. E. Rudenskaya; T. V. Markova; L. A. Bessonova; A. V. Marakhonov; S. E. Nagieva; O. A. Shchagina; A. V. Lavrov
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Crossref

Diversity of <i>VCP</i>-related phenotypes: case report and literature review

Neuromuscular Diseases
2021-04-19 | Journal article
Contributors: G. E. Rudenskaya; O. L. Mironovich; A. F. Murtazina; O. A. Shchagina
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Crossref

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families

BMC Neurology
2020-12 | Journal article
Contributors: G. E. Rudenskaya; V. A. Kadnikova; O. P. Ryzhkova; L. A. Bessonova; E. L. Dadali; D. S. Guseva; T. V. Markova; D. N. Khmelkova; A. V. Polyakov
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Crossref

Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia

Scientific Reports
2019-10-08 | Journal article
Contributors: V. A. Kadnikova; G. E. Rudenskaya; A. A. Stepanova; I. G. Sermyagina; O. P. Ryzhkova
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Crossref

Наследственные нейрометаболические болезни юношеского и взрослого возраста

Geotar-Media. Moscow.
2018 | Book
Source: Self-asserted source
Galina Rudenskaya

[Neurological presentations of oculodentodigital dysplasia]

Journal Nevrologii b Psikhiatrii im SS Koorsakova (Ruus)
2018-05 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing].

Zh Nevrol Psikhiatr Im S S Korsakova.
2018-03 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Clinical and genetic characteristics of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1].

Zh Nevrol Psikhiatr Im S S Korsakova.
2017-11 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Coincidence of two rare neurologic diseases detected by panel next-generation sequencing]

Meditsinskaya Genetika
2017-11 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Clinical and molecular characteristics of oculodentodigital dysplasia]

Meditsinskaya Genetika
2017-09 | Journal article
Source: Self-asserted source
Galina Rudenskaya

Adult-onset leukoencephalopathy with vanishing white matter.

Human Physiology
2017-08 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Hereditary diffuse leukoencephalopathy with spheroids (HDLS): first Russian case diagnosed by targeted NGS]

Meditsinskaya Genetika
2016-08 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[GM2 gangliosidosis in adults: first Russian case report and literature review]

Meditsinkaya Genetika
2015-12 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)]

Zh Nevrol Psikhiatr Im S S Korsakova.
2014-05 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].

Zh Nevrol Psikhiatr Im S S Korsakova.
2014-01 | Journal article
Source: Self-asserted source
Galina Rudenskaya

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

Hum Mutat
2013 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Neurological presentations of Allgrove (AAA) syndrome]

Zh Nevrol Psikhiatr Im S S Korsakova.
2013-04 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Ataxias with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostics].

Zh Nevrol Psikhiatr Im S S Korsakova.
2012-10 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].

Genetika
2012-09 | Journal article
Source: Self-asserted source
Galina Rudenskaya

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

Anal Biochem
2012-02 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Niemann-Pick disease, type C: an adult form with the prevalence of psychiatric presentations]

Zh Nevrol Psikhiatr Im S S Korsakova
2011-07 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular genetic characteristics].

Zh Nevrol Psikhiatr Im S S Korsakova.
2010-08 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Merosin-deficient congenital muscular dystrophy].

2010-03 | Journal article
Source: Self-asserted source
Galina Rudenskaya

[Myoclonic epilepsy of Lafora: a case report].

Zh Nevrol Psikhiatr Im S S Korsakova.
2010-03 | Journal article
Source: Self-asserted source
Galina Rudenskaya

Laminopathies in Russian families.

Clin Genet.
2008 | Journal article
Source: Self-asserted source
Galina Rudenskaya

Наследственные атаксии и параплегии

MEDpressinform, Moscow
2006 | Book
Source: Self-asserted source
Galina Rudenskaya