Found: 4

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  • De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

    Published in:
    Movement Disorders, 2022, v. 37, n. 6, p. 1175, doi. 10.1002/mds.28959
    By:
    • Van de Vondel, Liedewei;
    • De Winter, Jonathan;
    • Beijer, Danique;
    • Coarelli, Giulia;
    • Wayand, Melanie;
    • Palvadeau, Robin;
    • Pauly, Martje G.;
    • Klein, Katrin;
    • Rautenberg, Maren;
    • Guillot‐Noël, Léna;
    • Deconinck, Tine;
    • Vural, Atay;
    • Ertan, Sibel;
    • Dogu, Okan;
    • Uysal, Hilmi;
    • Brankovic, Vesna;
    • Herzog, Rebecca;
    • Brice, Alexis;
    • Durr, Alexandra;
    • Klebe, Stephan
    Publication type:
    Article

  • The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

    Published in:
    Movement Disorders, 2021, v. 36, n. 7, p. 1676, doi. 10.1002/mds.28518
    By:
    • Vural, Atay;
    • Şimşir, Gülşah;
    • Tekgül, Şeyma;
    • Koçoğlu, Cemile;
    • Akçimen, Fulya;
    • Kartal, Ece;
    • Şen, Nesli E.;
    • Lahut, Suna;
    • Ömür, Özgür;
    • Saner, Nazan;
    • Gül, Tuğçe;
    • Bayraktar, Elif;
    • Palvadeau, Robin;
    • Tunca, Ceren;
    • Pirkevi Çetinkaya, Caroline;
    • Gündoğdu Eken, Aslı;
    • Şahbaz, Irmak;
    • Kovancılar Koç, Müge;
    • Öztop Çakmak, Özgür;
    • Hanağası, Haşmet
    Publication type:
    Article

  • Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

    Published in:
    Human Mutation, 2020, v. 41, n. 8, p. e7, doi. 10.1002/humu.24055
    By:
    • Tunca, Ceren;
    • Şeker, Tuncay;
    • Akçimen, Fulya;
    • Coşkun, Cemre;
    • Bayraktar, Elif;
    • Palvadeau, Robin;
    • Zor, Seyit;
    • Koçoğlu, Cemile;
    • Kartal, Ece;
    • Şen, Nesli Ece;
    • Hamzeiy, Hamid;
    • Özoğuz Erimiş, Aslıhan;
    • Norman, Utku;
    • Karakahya, Oğuzhan;
    • Olgun, Gülden;
    • Akgün, Tahsin;
    • Durmuş, Hacer;
    • Şahin, Erdi;
    • Çakar, Arman;
    • Başar Gürsoy, Esra
    Publication type:
    Article

  • Outside Back Cover, Volume 41, Issue 8.

    Published in:
    Human Mutation, 2020, v. 41, n. 8, p. iv, doi. 10.1002/humu.24087
    By:
    • Tunca, Ceren;
    • Şeker, Tuncay;
    • Akçimen, Fulya;
    • Coşkun, Cemre;
    • Bayraktar, Elif;
    • Palvadeau, Robin;
    • Zor, Seyit;
    • Koçoğlu, Cemile;
    • Kartal, Ece;
    • Şen, Nesli Ece;
    • Hamzeiy, Hamid;
    • Özoğuz Erimiş, Aslıhan;
    • Norman, Utku;
    • Karakahya, Oğuzhan;
    • Olgun, Gülden;
    • Akgün, Tahsin;
    • Durmuş, Hacer;
    • Şahin, Erdi;
    • Çakar, Arman;
    • Başar Gürsoy, Esra
    Publication type:
    Article