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Page 1
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, Uluç K, Hanağası H, Bilgiç B, Turgut N, Aysal F, Ertaş M, Boz C, Kotan D, İdrisoğlu H, Soysal A, Uzun Adatepe N, Akalın MA, Koç F, Tan E, Oflazer P, Deymeer F, Taştan Ö, Çiçek AE, Kavak E, Parman Y, Başak AN. Tunca C, et al. Among authors: basak an. Hum Mutat. 2020 Aug;41(8):e7-e45. doi: 10.1002/humu.24055. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32579787
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural A, Şimşir G, Tekgül Ş, Koçoğlu C, Akçimen F, Kartal E, Şen NE, Lahut S, Ömür Ö, Saner N, Gül T, Bayraktar E, Palvadeau R, Tunca C, Pirkevi Çetinkaya C, Gündoğdu Eken A, Şahbaz I, Kovancılar Koç M, Öztop Çakmak Ö, Hanağası H, Bilgiç B, Eraksoy M, Gündüz A, Apaydın H, Kızıltan G, Özekmekçi S, Siva A, Altıntaş A, Kaya Güleç ZE, Parman Y, Oflazer P, Deymeer F, Durmuş H, Şahin E, Çakar A, Tüfekçioğlu Z, Tektürk P, Çorbalı MO, Tireli H, Akdal G, Yiş U, Hız S, Şengün İ, Bora E, Serdaroğlu G, Erer Özbek S, Ağan K, İnce Günal D, Us Ö, Kurt SG, Aksoy D, Bora Tokçaer A, Elmas M, Gültekin M, Kumandaş S, Acer H, Kaya Özçora GD, Yayla V, Soysal A, Genç G, Güllüoğlu H, Kotan D, Özözen Ayas Z, Şahin HA, Tan E, Topçu M, Topçuoğlu ES, Akbostancı C, Koç F, Ertan S, Elibol B, Başak AN. Vural A, et al. Among authors: basak an. Mov Disord. 2021 Jul;36(7):1676-1688. doi: 10.1002/mds.28518. Epub 2021 Feb 24. Mov Disord. 2021. PMID: 33624863
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: basak an. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass J… See abstract for full author list ➔ Saez-Atienzar S, et al. Among authors: basak an. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 Free PMC article.
141 results