Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Robin Palvadeau"'
1
The genetic structure of the Turkish population reveals high levels of variation and admixture
Autor: Jean-Laurent Casanova, A. Nazli Basak, David Neil Cooper, Jungmin Choi, M Ece Kars, Peter D. Stenson, Hakan Buluş, Robin Palvadeau, Alper Yavuz, Caner Çağlar, O Emre Onat, Kaya Bilguvar, Tayfun Ozcelik, Yuval Itan, Murat Gunel, Jeffrey M. Friedman
Publikováno v: Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America
The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated subjects whose whole exomes (
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3bbe5d2fef38c4f1fbe81d7549f0bd5
https://pubmed.ncbi.nlm.nih.gov/34949644
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2
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
Autor: Robin Palvadeau, Atay Vural, Sibel Ertan, M S Aygün, Gülşah Şimşir, Gençer Genç, A. Nazli Basak, Z E Kaya-Güleç, Okan Falay, Ö Öztop-Çakmak
Publikováno v: neurogenetics. 21:51-58
SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Tur
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::adbccc68da0ae0c51ee38dcb25439b81
https://doi.org/10.1007/s10048-019-00595-0
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3
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
Autor: Faten Almutairi, Tarek Mustafa Owaidah, Najmeh Ahangari, Nada Al-Ahmadi, Leslie E. Sanderson, Henry Houlden, Romulo Mombach, Mazhor Al-Dosary, Anoud Abdulmalik Albader, Banan Al-Younes, Osama M. Mustafa, Tainá Regina Damaceno Silveira, Dilek Colak, Namik Kaya, Miriam Schmidts, Hazem Ghebeh, Herma C. van der Linde, Robin Palvadeau, Aida M. Bertoli-Avella, Raghda M Sabbagh, Rawan Almass, Hesham Aldhalaan, Maryam Najafi, Bashayer Alawam, Aljouhra AlHargan, Kristina Lanko, Aljohara Alharbi, Maysoon Alsagob, Bedri Karakas, Reza Maroofian, A. Nazli Basak, Khalid AlAhmadi, Ali Al-Odaib, Arndt Rolfs, Mohammad A. Al-Muhaizea, Elena Perenthaler, Najim Ameziane, Dinu Antony, Futwan Al-Mohanna, Albandary Al-Bakheet, Faisal S. BinHumaid, Anita Nikoncuk, Nikolas A Kühn, Dorota Monies, Ehsan Ghayoor Karimiani, Hamad Al-Zaidan, Tjakko J. van Ham, Ewa Goljan, Luana Gabriela Dalla Rosa Vieira, Jill A. Rosenfeld, Salmo Raskin, Dürdane Aksoy, Brian F. Meyer, Tahsin Stefan Barakat, Daniah Trabzuni, Stefan T. Arold
Publikováno v: Brain, 144(3), 769-780. Oxford University Press
Brain
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregatio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3829cf3b4e450f526ad567f2a5f9dda5
https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0
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4
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
Autor: Mefkure Eraksoy, Onder Us, Sibel Ertan, Hacer Durmus, Filiz Koç, Nazan Saner, Şeyma Tekgül, Pinar Tekturk, Cemile Kocoglu, Gençer Genç, Robin Palvadeau, Feza Deymeer, Güneş Kızıltan, Ece Kartal, Hulya Apaydin, Sevda Erer Özbek, Cenk Akbostanci, Suna Lahut, Yesim Parman, Erdi Şahin, Dilcan Kotan, Hülya Tireli, Murat Gultekin, Zeynep Özözen Ayas, Ersin Tan, Sibel Özekmekçi, Irmak Şahbaz, Hamit Acer, Zeynep Tufekcioglu, Dilek Ince Gunal, Hasmet Hanagasi, İhsan Şükrü Şengün, Arman Çakar, Esen Saka Topcuoglu, Gülşah Şimşir, Gülden Akdal, Elif Bayraktar, Fulya Akçimen, Ayşe Bora Tokçaer, Aysegul Gunduz, Uluç Yiş, Gul Serdaroglu, Atay Vural, Ayse Altintas, Hüseyin A. Şahin, Özgür Ömür, Tuğçe Gül, Gül Demet Kaya Özçora, Müge Kovancılar Koç, Vildan Yayla, Aksel Siva, Semra Hiz, Meral Topçu, Piraye Oflazer, Başar Bilgiç, M. Osman Çorbalı, Semiha Kurt, Elçin Bora, Nesli E. Şen, Kadriye Agan, A. Nazli Basak, Halil Güllüoğlu, Ceren Tunca, Sefer Kumandaş, Muhsin Elmas, Özgür Öztop Çakmak, Bulent Elibol, Aysun Soysal, Zeynep E. Kaya Gulec, Caroline Pirkevi Çetinkaya, Dürdane Aksoy, Aslı Gündoğdu Eken
Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd268a54a7c084aa9507fb520b75a7d
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oai
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