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[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A].
We present the results of the molecular genetic study of 26 patients, aged from 12 to 60 years, from 24 unrelated families with limb girdle-muscular dystrophy (LGMD) type 2A. The disease durationExpand
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Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by a combination of hearing impairment with preauricular pits, cervical fistulas or cysts, and various renalExpand
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Hidden X Chromosomal Mosaicism in a 46,XX Male
We report on a 37-year-old XX male with complex hidden X chromosomal mosaicism. The patient had fully mature male genitalia with hypoplastic testes descended in the scrotum and no sign ofExpand
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[Common forms of hereditary spastic paraplegias].
A group of hereditary spastic paraplegias includes about 80 spastic paraplegia genes (SPG): forms with identified (almost 70) or only mapped (about 10) genes. Methods of next generation sequencingExpand
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Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of neurodegenerative disorders, it share common symptom - of progressive lower spastic paraparesis. The most common autosomalExpand
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A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family
SPG61 (OMIM: 615685) is an extremely rare form of complicated hereditary spastic paraplegia [1,2]. To date, only one family with SPG61 has been reported [3]. Here, we describe the second SPG61 caseExpand
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[Hereditary spastic paraplegia type 4 (SPG4) in Russian patients].
AIM To investigate molecular, clinical and genealogical characteristics of SPG4 in a first representative Russian group, to estimate SPG4 proportion among all DNA-diagnosed spastic paraplegias. Expand
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Molecular Genetic Diversity and DNA Diagnostics of Hereditary Spastic Paraplegia
Abstract—Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders predominantly characterized by damage to the pyramidal tract. The major, single symptom of HSP isExpand
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Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies
Limb-girdle muscular dystrophy 2D (LGMD 2D) is the most common form of sarcoglycanopathies, which include autosomal recessive LGMDs caused by various molecular defects in the genes encodingExpand
Comparative analysis of phenotypic traits in two common genetic variants of limb-girdle muscular dystrophy
Introduction limb-girdle muscular dystrophy (LGMD) is a group of clinically and genetically heterogeneous polymorphic diseases characterized by progressive muscle weakness, atrophy of skeletalExpand