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المؤلفون: Platonov FA; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Tyryshkin K; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, K7L 3N6, Canada., Tikhonov DG; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Neustroyeva TS; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Sivtseva TM; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Yakovleva NV; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Nikolaev VP; Institute of Health, M.K. Ammosov North-Eastern Federal University, Yakutsk, 677010, The Russian Federation., Sidorova OG; Center for Integrated Medical Research, Academy of Medical Sciences, Yakutsk, 677010, The Russian Federation., Kononova SK; Center for Integrated Medical Research, Academy of Medical Sciences, Yakutsk, 677010, The Russian Federation., Goldfarb LG; National Institute of Neurological Disorder and Stoke, NIH, Bethesda, MD, 20892, USA. GoldfarbL@ninds.nih.gov., Renwick NM; Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, K7L 3N6, Canada.

المصدر: Neurogenetics [Neurogenetics] 2016 Jul; Vol. 17 (3), pp. 179-85. Date of Electronic Publication: 2016 Apr 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Fitness* , Selection, Genetic*, Ataxin-1/*genetics , Spinocerebellar Ataxias/*epidemiology , Spinocerebellar Ataxias/*genetics, Adult ; Aged ; Aged, 80 and over ; Birth Rate ; Cohort Studies ; Female ; Heterozygote ; Humans ; Incidence ; Male ; Middle Aged ; Mutation ; Siberia/epidemiology

المؤلفون: Sambuughin N; Consortium for Health and Military Performance, Uniformed Services University, Bethesda, MD, 20814, USA. nyamkhishig.sambuughin.ctr@usuhs.edu., Goldfarb LG; National Institute of Neurological Disorders and Stroke, National Institute of Health, Bethesda, MD, 20892, USA. GoldfarbL@ninds.nih.gov., Sivtseva TM; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. sivtceva@list.ru., Davydova TK; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. davtk@rambler.ru., Vladimirtsev VA; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. sevelot@mail.ru., Osakovskiy VL; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. iz_labgene@mail.ru., Danilova AP; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. danilova61@list.ru., Nikitina RS; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. nikitina_raisa@mail.ru., Ylakhova AN; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. anesthesya@mail.ru., Diachkovskaya MP; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. margarita.dyachkovskaya@mail.ru., Sundborger AC; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Fishers Lane, Room 4S26, Bethesda, MD, 20892, USA. anna.sundborger@nih.gov., Renwick NM; Department of Pathology and Molecular Medicine, Queen's University, Kingston General Hospital, Kingston, ON, K7L 3N6, Canada. neil.renwick@queensu.ca., Platonov FA; Institute of Health, M.K. Ammosov North-Eastern Federal University, Sergelyakhskoe shosse 4 km, building C-2, Yakutsk, 677010, The Russian Federation. platonovy@mail.ru., Hinshaw JE; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Fishers Lane, Room 4S26, Bethesda, MD, 20892, USA. jennyh@helix.nih.gov., Toro C; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. toroc@mail.nih.gov.

المصدر: BMC neurology [BMC Neurol] 2015 Oct 30; Vol. 15, pp. 223. Date of Electronic Publication: 2015 Oct 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Exome*, Dynamins/*genetics , GTP Phosphohydrolases/*genetics , Spastic Paraplegia, Hereditary/*genetics, Adult ; DNA Mutational Analysis ; Dynamin II ; Family Health ; Female ; GTP Phosphohydrolases/chemistry ; Genetic Variation ; HeLa Cells ; Humans ; Male ; Middle Aged ; Mutation ; Mutation, Missense ; Phenotype ; Siberia

SCR Disease Name: Spastic paraplegia 10, autosomal dominant