Genetic identification, clinical features and prevalence of Spinocerebellar ataxia type 1 in Sakha Republic (Yakutia)

Autor: Fedor Platonov, Lev G. Goldfarb

Publikováno v: Сибирские исследования, Vol 2, Iss 2, Pp 62-73 (2020)

Over the past several decades, more than 500 cases of Autosomal dominant spinocerebellar ataxia type 1 (SCA1) have been identified in the Republic of Sakha (Yakutia) of North-Eastern Siberia. The disease leads to long-term disability and death, makin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cda523659d7e2b25375237143f9b5686
https://doi.org/10.33384/26587270.2019.02.008e

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

Autor: Oksana G. Sidorova, Dmitriy G. Tikhonov, Fedor Platonov, Tatyana S. Neustroyeva, Kathrin Tyryshkin, Neil Renwick, Sardana K. Kononova, Natalya V. Yakovleva, Valerian P. Nikolaev, Lev G. Goldfarb, Tatyana M. Sivtseva

Publikováno v: neurogenetics. 17:179-185

Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304e72447d444808fed26b0db9cab6e9
https://doi.org/10.1007/s10048-016-0481-5

Ancient human genomes suggest three ancestral populations for present-day Europeans

Autor: Joanna L. Mountain, Michael F. Hammer, Ruslan Ruizbakiev, Cesare de Filippo, Kumarasamy Thangaraj, David E. C. Cole, Haim Ben-Ami, Leila Laredj, Mark Lipson, Jüri Parik, Valentino Romano, Andres Ruiz-Linares, Fouad Berrada, Dominique Delsate, Ugur Hodoglugil, Antti Sajantila, Olga Utevska, Shahlo Turdikulova, Tor Hervig, Ludmila P. Osipova, Hovhannes Sahakyan, Robert W. Mahley, Ramiro Barrantes, Kirsten I. Bos, Stanislav Dryomov, Peter H. Sudmant, Nadin Rohland, Heng Li, Gabriel Renaud, Mikhail Voevoda, Claudio M. Bravi, Jean-Michel Guinet, Rem I. Sukernik, Joachim Wahl, Matthias Meyer, Christos Economou, Kay Prüfer, Graciela Bailliet, Mait Metspalu, Mikhail Churnosov, Iosif Lazaridis, Johannes Krause, Bonnie Berger, Levon Yepiskoposyan, Francesca Brisighelli, Francesco Calì, Irene Gallego Romero, Oleg Balanovsky, George Ayodo, Alan Cooper, Alissa Mittnik, Julio Molina, George van Driem, Jean-Michel Dugoujon, Larissa Damba, Fedor Platonov, Nick Patterson, David Reich, Thomas B. Nyambo, David Comas, Olga L. Posukh, Béla Melegh, Draga Toncheva, Alena Kushniarevich, Brenna M. Henn, Montgomery Slatkin, René Vasquez, Elena B. Starikovskaya, Joachim Burger, Ayele Tarekegn, Tatijana Zemunik, Ene Metspalu, Sena Karachanak-Yankova, Lalji Singh, Wolfgang Haak, Susanna Sawyer, Rick A. Kittles, Cheryl A. Winkler, Svante Pääbo, Francisco Rothhammer, Marina Gubina, Pierre Zalloua, Aashish R. Jha, Swapan Mallick, Sergi Castellano, Qiaomei Fu, Desislava Nesheva, Sergey Litvinov, Ingrida Uktveryte, Michael Francken, Cosimo Posth, Theologos Loukidis, Cristian Capelli, Janet Kelso, Sarah A. Tishkoff, Toomas Kivisild, Mark G. Thomas, Elin Fornander, Mercedes Villena, Fredrik Hallgren, Vaidutis Kučinskas, Daniel Corach, George B.J. Busby, Judit Bene, William Klitz, Hamza A. Babiker, Karola Kirsanow, Ruth Bollongino, Rita Khusainova, Evan E. Eichler, Sardana A. Fedorova, Klemetti Näkkäläjärvi, Igor Rudan, Susanne Nordenfelt, Joshua G. Schraiber, Elena Balanovska, Antonio Salas, Richard Villems, Gabriel Bedoya, Elza Khusnutdinova

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Nature
PMC
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes1,2,3,4 with 2,345 contemporary humans to show that most present-d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63377f5960815494400ab88ada55992
https://www.nature.com/articles/nature13673

Sergei Fedorovich Platonov (1860-1933): A Life for Russia

Autor: Tsamutali, A.

Publikováno v: Russian Studies in History; April 1998, Vol. 36 Issue: 4 p12-38, 27p

Kontroversen in der jüngeren Mediävistik

Autor: Hans-Werner Goetz

Die Geschichte der Mediävistik ist (wie die Geschichte der Geschichtswissenschaft) von zahlreichen Kontroversen geprägt, die unterschiedliche Ursachen haben und sich, neben Deutungs- und Bewertungsdifferenzen der Quellen und Quellenberichte, vielfa