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المؤلفون: Zhernakova DV; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: dashazhernakova@gmail.com., Brukhin V; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Malov S; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Department of Mathematics, St. Petersburg Electrotechnical University, St. Petersburg, Russian Federation., Oleksyk TK; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Biology Department, University of Puerto Rico at Mayaguez, Mayaguez, Puerto Rico; Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA., Koepfli KP; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; National Zoological Park, Smithsonian Conservation Biology Institute, Washington, DC, USA., Zhuk A; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Vavilov Institute of General Genetics, Russian Academy of Sciences, St. Petersburg Branch, St. Petersburg, Russian Federation., Dobrynin P; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; National Zoological Park, Smithsonian Conservation Biology Institute, Washington, DC, USA., Kliver S; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Cherkasov N; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Tamazian G; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Rotkevich M; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Krasheninnikova K; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Evsyukov I; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Sidorov S; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Gorbunova A; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russian Federation., Chernyaeva E; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Shevchenko A; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Kolchanova S; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Biology Department, University of Puerto Rico at Mayaguez, Mayaguez, Puerto Rico., Komissarov A; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Simonov S; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Antonik A; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Logachev A; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation., Polev DE; Centre Biobank, Research Park, St. Petersburg State University, St. Petersburg, Russian Federation., Pavlova OA; Centre Biobank, Research Park, St. Petersburg State University, St. Petersburg, Russian Federation., Glotov AS; Laboratory of biobanking and genomic medicine of Institute of translation biomedicine, St. Petersburg State University, St. Petersburg, Russian Federation., Ulantsev V; Computer Technologies Laboratory, ITMO University, St. Petersburg, Russian Federation., Noskova E; Computer Technologies Laboratory, ITMO University, St. Petersburg, Russian Federation; JetBrains Research, St. Petersburg, Russian Federation., Davydova TK; Federal State Budgetary Scietific Institution, 'Yakut science center of complex medical problems', Yakutsk, Russian Federation., Sivtseva TM; Institute of Health, North-Eastern Federal University, Yakutsk, Russian Federation., Limborska S; Department of Molecular Bases of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russian Federation., Balanovsky O; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russian Federation; Research Centre for Medical Genetics, Moscow, Russian Federation; Biobank of North Eurasia, Moscow, Russian Federation., Osakovsky V; Institute of Health, North-Eastern Federal University, Yakutsk, Russian Federation., Novozhilov A; Department of Ethnography and Anthropology, St. Petersburg State University, St. Petersburg, Russian Federation., Puzyrev V; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science, Tomsk, Russian Federation., O'Brien SJ; Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Guy Harvey Oceanographic Center, Halmos College of Natural Sciences and Oceanography, Nova Southeastern University, 8000 North Ocean Drive, Ft Lauderdale, Florida 33004, USA. Electronic address: lgdchief@gmail.com.

المصدر: Genomics [Genomics] 2020 Jan; Vol. 112 (1), pp. 442-458. Date of Electronic Publication: 2019 Mar 19.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1089-8646 (Electronic) Linking ISSN: 08887543 NLM ISO Abbreviation: Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, Adult ; Communicable Diseases/genetics ; Demography ; Haplotypes ; Humans ; INDEL Mutation ; Pharmacogenetics ; Phenotype ; Phylogeography ; Polymorphism, Single Nucleotide ; Russia/ethnology ; Selection, Genetic ; Whole Genome Sequencing

المؤلفون: Sivtseva TM; Institute of Health, North-Eastern Federal University, Yakutsk, Russia. Electronic address: tm.sivtseva@s-vfu.ru., Vladimirtsev VA; Institute of Health, North-Eastern Federal University, Yakutsk, Russia., Nikitina RS; Institute of Health, North-Eastern Federal University, Yakutsk, Russia., Davidova TK; Institute of Health, North-Eastern Federal University, Yakutsk, Russia., Popov DA; Department of Radiology, Republican Hospital #2 - Center of Emergency Medicine, Yakutsk, Russia., Osakovsky VL; Institute of Health, North-Eastern Federal University, Yakutsk, Russia.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2018 Jan 15; Vol. 384, pp. 84-88. Date of Electronic Publication: 2017 Nov 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Encephalomyelitis/*physiopathology , Immunoglobulin G/*biosynthesis , Immunoglobulin G/*cerebrospinal fluid , Oligoclonal Bands/*biosynthesis , Oligoclonal Bands/*cerebrospinal fluid, Adult ; Age Factors ; Aged ; Brain/diagnostic imaging ; Chronic Disease ; Disease Progression ; Encephalomyelitis/diagnostic imaging ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Mental Status and Dementia Tests ; Middle Aged ; Severity of Illness Index

المؤلفون: Zlobin AS; Novosibirsk State University, Novosibirsk, 630090, Russia. defrag12@gmail.com.; Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia. defrag12@gmail.com., Sharapov SS; Novosibirsk State University, Novosibirsk, 630090, Russia.; Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia., Guryev VP; European Research Institute for the Biology of Ageing, University Medical Center Groningen, Groningen, The Netherlands., Bevova MR; European Research Institute for the Biology of Ageing, University Medical Center Groningen, Groningen, The Netherlands., Tsepilov YA; Novosibirsk State University, Novosibirsk, 630090, Russia.; Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia., Sivtseva TM; Research Institute of Health, Ammosov North-Eastern Federal University, Yakutsk, Russia., Boyarskih UA; Novosibirsk State University, Novosibirsk, 630090, Russia.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia., Sokolova EA; Novosibirsk State University, Novosibirsk, 630090, Russia.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia., Aulchenko YS; Novosibirsk State University, Novosibirsk, 630090, Russia.; Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia., Filipenko ML; Novosibirsk State University, Novosibirsk, 630090, Russia.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia., Osakovsky VL; Research Institute of Health, Ammosov North-Eastern Federal University, Yakutsk, Russia.

المصدر: Doklady. Biochemistry and biophysics [Dokl Biochem Biophys] 2017 May; Vol. 474 (1), pp. 213-216. Date of Electronic Publication: 2017 Jul 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pleiades Publishing Country of Publication: United States NLM ID: 101126895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1608-3091 (Electronic) Linking ISSN: 16076729 NLM ISO Abbreviation: Dokl Biochem Biophys Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, Ethnicity/*genetics , Exome/*genetics, Heterozygote ; Homozygote ; Humans ; Polymorphism, Single Nucleotide

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