Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.

Autor: Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein

Publikováno v: PLoS ONE, Vol 18, Iss 10, p e0292180 (2023)

Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genet

Externí odkaz: https://doaj.org/article/58585cdc8b73494895f8856cace8556b

Investigation of Factors Affecting Spontaneous Eye Blink Frequency in Parkinson's Disease

Autor: Esra ÖZKAN, Özgür ÖZTOP-ÇAKMAK, Emine ŞEKERDAĞ-KILIÇ, Ceren MÜŞERREF-ŞELTE, Yasemin GÜRSOY-ÖZDEMİR

Publikováno v: Volume: 9, Issue: 3 375-380
Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi
CBU-SBED: Celal Bayar University-Health Sciences Institute Journal

Giriş ve Amaç: Parkinson hastalığı (PH) beyinde dopaminerjik kayıpla giden nörodejeneratif bir hareket bozukluğudur. Spontan göz kırpma sıklığı (SGKS) da beynin dopamin kaynakları hakkında bilgi veren bir belirteç olduğu bilinmekted

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f471e516e44ef4f9b3b4f3ed4ce60a65
https://doi.org/10.34087/cbusbed.1062244

Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson’s disease

Autor: Sibel Ertan, Güneş Kızıltan, Gençer Genç, Aysegul Gunduz, Erdinç Dursun, Merve Alaylıoğlu, Hasmet Hanagasi, Selma Yilmazer, Büşra Şengül, Başar Bilgiç, Hulya Apaydin, Duygu Gezen-Ak, Özgür Öztop Çakmak, Hakan Gurvit

Publikováno v: International Journal of Neuroscience. 132:439-449

Gurvit, Hakan/0000-0003-2908-8475; Bilgic, Basar/0000-0001-6032-0856; Ertan, Sibel/0000-0003-1339-243X; Genc, Gencer/0000-0002-8094-3062; KIZILTAN, GUNES/0000-0001-9284-198X; Gunduz, Aysegul/0000-0003-2365-0850 WOS:000570012300001 PubMed: 32938288 Pu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9bc3205b7b63302d4069fe919df7af
https://doi.org/10.1080/00207454.2020.1820502

Acute-Onset Hemiparkinsonism Secondary to Subacute-Chronic Subdural Hematoma

Autor: Sibel Özekmekçi, Sibel Ertan, Selçuk Peker, Gülçin Benbir Şenel, Özgür Öztop Çakmak

Publikováno v: Turkish neurosurgery. 32(2)

Subdural hematomas constitute rare causes of secondary Parkinsonism in elderly. Subacute or chronic subdural hematomas occur in the elderly following minor head trauma or even without a remarkable history of trauma. A 69-year-old woman admitted with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999382c4d8630848321311333ef8c6ab
https://pubmed.ncbi.nlm.nih.gov/34936080

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