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Veröffentlichungsdatum
Anzahl der Publikationen: 2
2022
Vondel, Liedewei van de; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli und Baets, Jonathan
(2022):
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
In: Movement Disorders, Bd. 37, Nr. 6: S. 1175-1186
[PDF, 1MB]
2020
Tunca, Ceren; Seker, Tuncay; Akcimen, Fulya; Coskun, Cemre; Bayraktar, Elif; Palvadeau, Robin; Zor, Seyit; Kocoglu, Cemile; Kartal, Ece; Sen, Nesli Ece; Hamzeiy, Hamid; Erimis, Aslihan Ozoguz; Norman, Utku; Karakahya, Oguzhan; Olgun, Gulden; Akgun, Tahsin; Durmus, Hacer; Sahin, Erdi; Cakar, Arman; Gursoy, Esra Baar; Yildiz, Gulsen Babacan; Isak, Baris; Uluc, Kayihan; Hanagasi, Hasmet; Bilgic, Basar; Turgut, Nilda; Aysal, Fikret; Ertas, Mustafa; Boz, Cavit; Kotan, Dilcan; Idrisoglu, Halil; Soysal, Aysun; Adatepe, Nurten Uzun; Akalin, Mehmet Ali; Koc, Filiz; Tan, Ersin; Oflazer, Piraye; Deymeer, Feza; Tastan, Oznur; Cicek, A. Ercument; Kavak, Ersen; Parman, Yesim und Basak, A. Nazli
(2020):
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
In: Human Mutation, Bd. 41, Nr. 8, E7-E45