Zobrazeno 1 - 10
of 165
pro vyhledávání: '"Markova Ed"'
Publikováno v:
Journal of the History of the Neurosciences. 16:160-167
Nikolai V. Konovalov (1900-1966) has left a significant imprint in the history of Russian neuroscience. He was among the coryphaei of international and national neurology. Along with the large number of fundamental scientific papers that have determi
Autor:
Sergey N. Illarioshkin, Markova Ed, M. I. Shadrina, T. B. Zagorovskaya, Miklina Ni, Irina A. Ivanova-Smolenskaya, Svetlana A. Limborska, S. A. Klyushnikov, P. A. Slominsky
Publikováno v:
Russian Journal of Genetics. 40:663-671
The review summarizes the results of a decade of molecular genetic studies of several high-incidence hereditary neurodegenerative diseases, including primary parkinsonism, various forms of hereditary dystonia and ataxia, polyglutamine disorders, hepa
Autor:
Olga V. Miloserdova, Irina A. Ivanova-Smolenskaya, Magali Periquet, P. A. Slominsky, Tatyana B. Zagorovskaya, Sergei N. Illarioshkin, Alexis Brice, Markova Ed, Christoph B. Lücking, Nina Rawal, Svetlana A. Limborska
Publikováno v:
Movement Disorders. 18:914-919
Autosomal recessive juvenile parkinsonism (AR-JP) is a form of hereditary parkinsonism characterized by variable clinical presentations and caused by mutations in a novel gene, parkin, on chromosome 6q25.2–27. Until now, no Russian cases of parkin-
Autor:
Alexis Brice, Sergey N. Illarioshkin, Markova Ed, Irina A. Ivanova-Smolenskaya, Miklina Ni, S. A. Klyushnikov, Svetlana A. Limborska, R. A. Rakhmonov
Publikováno v:
Russian Journal of Genetics. 38:1447-1451
Essential tremor (ET) is the most common extrapyramidal disorder of the central nervous system with autosomal dominant transmission in the majority of cases and age-dependent penetrance of the mutant gene. In a number of cases, it shares some phenoty
Autor:
Alexis Brice, Markova Ed, Sergei N. Illarioshkin, Rahmatullo A. Rahmonov, Irina A. Ivanova-Smolenskaya, Giovanni Stevanin
Publikováno v:
Movement Disorders. 15:1020-1023
Autor:
G. kH. Bagieva, S. A. Klyushnikov, Sergey N. Illarioshkin, Igor V. Ovchinnikov, Irina A. Ivanova-Smolenskaya, Markova Ed
Publikováno v:
European Journal of Neurology. 7:535-540
We examined a large Turkmen family with 'pseudo-dominant' inheritance of Friedreich's ataxia resulting from consanguineous marriage of a Friedreich's ataxia patient to a heterozygote carrying an ancestral mutated allele. Two distinct phenotypes of th
Autor:
Sergey N. Illarioshkin, Takeshi Ikeuchi, Markova Ed, Kristina M. Allen, Joseph G. Gleeson, Shoji Tsuji, Christopher A. Walsh, Irina A. Ivanova-Smolenskaya
Publikováno v:
Journal of Neurology. 246:1177-1180
A gene for X-linked congenital cerebellar hypoplasia was recently localized to chromosome Xp11.21-q24. This region comprises several brain-specific genes responsible for various neurological disorders, including the proteolipid protein (PLP), doublec
Autor:
P. A. Slominsky, Markova Ed, Popova Sn, Sergei N. Illarioshkin, Miklina Ni, Irina A. Ivanova-Smolenskaya, Svetlana A. Limborska
Publikováno v:
European Journal of Neurology. 6:605-608
We examined a large family of Ashkenazi Jewish origin with autosomal dominant dopa-responsive dystonia (DRD). Mutation analysis of the GTP cyclohydrolase I gene revealed in affected members a novel point mutation (a C/A change in exon 1) resulting in
Autor:
Christine Klein, Svetlana A. Limborska, Markova Ed, Xandra O. Breakefield, Laurie J. Ozelius, Neil Risch, Mitchell F. Brin, Andrzej Friedman, Susan B. Bressman, Irina A. Ivanova-Smolenskaya, Deborah de Leon
Publikováno v:
Human Molecular Genetics. 7:1133-1136
The DYT1 gene recently has been cloned and shown to contain a three nucleotide (GAG) deletion responsible for most cases of autosomal dominant early-onset torsion dystonia. This deletion results in the loss of one of a pair of glutamic acids in a con