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Anzahl der Publikationen: 7
Zeitschriftenartikel
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]
Traschuetz, Andreas; Reich, Selina; Adarmes, Astrid D.; Anheim, Mathieu; Ashrafi, Mahmoud Reza; Baets, Jonathan; Basak, A. Nazli; Bertini, Enrico; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Hanagasi, Hasmet A.; Heinzmann, Anna; Horvath, Rita; Jonghe, Peter de; Kamm, Christoph; Klivenyi, Peter; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde; Roxburgh, Richard H.; Santorelli, Filippo M.; Schirinzi, Tommaso; Sival, Deborah A.; Timmann, Dagmar; Vielhaber, Stefan; Wallner, Michael; Warrenburg, Bart P. van de; Zanni, Ginevra; Zuchner, Stephan; Klockgether, Thomas; Schuele, Rebecca; Schols, Ludger und Synofzik, Matthis
(25. Juni 2021):
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
In: Frontiers in Neurology, Bd. 12, 677551
[PDF, 1MB]
Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; Warrenburg, Bart P. van de; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli und Synofzik, Matthis
(2021):
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
In: Neurology, Bd. 96, Nr. 9, E1369-E1382
Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; Warrenburg, Bart van de; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; König, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene und Synofzik, Matthis
(2020):
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
In: Annals of Neurology, Bd. 88, Nr. 2: S. 251-263
[PDF, 7MB]
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
Forouhideh, Yalda; Mueller, Kathrin; Ruf, Wolfgang; Assi, Muhannad; Seker, Tuncay; Tunca, Ceren; Knehr, Antje; Strom, Tim M.; Gorges, Martin; Schradt, Falk; Meitinger, Thomas; Ludolph, Albert C.; Pinkhardt, Elmar H.; Basak, A. Nazli; Kassubek, Jan; Uttner, Ingo und Weishaupt, Jochen H.
(2019):
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
In: Brain, Bd. 142
[PDF, 446kB]
Vural, Secil; Vural, Atay; Akcimen, Fulya; Bagci, Isin S.; Tunca, Ceren; Eken, Asli Gundogdu; Ruzicka, Thomas und Basak, A. Nazli
(2018):
Clinical and molecular characterization and response to acitretin in three families with Sjogren-Larsson syndrome.
In: International Journal of Dermatology, Bd. 57, Nr. 7: S. 843-848