SCN1A GENE SEQUENCING IN 46 TURKISH EPILEPSY PATIENTS DISCLOSED 12 NOVEL MUTATIONS von Usluer, Sunay, Salar, Seda, Arslan, Mutluay, Yiş, Uluç, Kara, Bülent, Tektürk, Pınar, Baykan, Betül, Meral, Cihan, Türkdoğan, Dilşad, Bebek, Nerses, Çapan, Özlem Yalçın, Eken, Aslı Gündoğdu, Çağlayan, S. Hande

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Clinical and molecular characterization and response to acitretin in three families with Sjögren‐Larsson syndrome von Vural, Seçil, Vural, Atay, Akçimen, Fulya, Bağci, Işın S., Tunca, Ceren, Gündoğdu Eken, Asli, Ruzicka, Thomas, Başak, A. Nazli

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Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia von Gundogdu Eken, Aslı, Sahbaz, E. Irmak, Aksoy, Durdane, Cevik, Betul, Kurt, Semiha, Basak, A. Nazli

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ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree von Tunca, Ceren, Akçimen, Fulya, Coşkun, Cemre, Gündoğdu-Eken, Aslı, Kocoglu, Cemile, Çevik, Betül, Bekircan-Kurt, Can Ebru, Tan, Ersin, Başak, A Nazlı

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Dentatorubral pallidoluysian atrophy in a Turkish family von Yiş, Uluç, Dirik, Eray, Gündoğdu-Eken, Asli, Başak, A Nazli

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Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE) von Usluer, Sunay, Kayserili, Melek Aslı, Eken, Aslı Gündoğdu, Yiş, Uluc, Leu, Costin, Altmüller, Janine, Thiele, Holger, Nuernberg, Peter, Sander, Thomas, Çağlayan, S. Hande

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Successful treatment of Juvenile parkinsonism with bilateral subthalamic deep brain stimulation in a 14-year-old patient with parkin gene mutation von Genç, Gençer, Apaydın, Hülya, Gündüz, Ayşegül, Poyraz, Çağrı, Oğuz, Semra, Yağcı, Selin, Canaz, Hüseyin, Aydın, Sabri, Gündoğdu-Eken, Aslı, Başak, Ayşe Nazlı, Ertan, Sibel

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Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2 von Hamzeiy, Hamid, Savaş, Doruk, Tunca, Ceren, Şen, Nesli Ece, Gündoğdu Eken, Aslı, Şahbaz, Irmak, Calini, Daniela, Tiloca, Cinzia, Ticozzi, Nicola, Ratti, Antonia, Silani, Vincenzo, Başak, A. Nazlı

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Polygenic burden in focal and generalized epilepsies von Leu, Costin, Stevelink, Remi, Smith, Alexander W, Goleva, Slavina B, Kanai, Masahiro, Ferguson, Lisa, Campbell, Ciaran, Kamatani, Yoichiro, Okada, Yukinori, Sisodiya, Sanjay M, Cavalleri, Gianpiero L, Koeleman, Bobby P C, Lerche, Holger, Jehi, Lara, Davis, Lea K, Najm, Imad M, Palotie, Aarno, Daly, Mark J, Busch, Robyn M, Lal, Dennis

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Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey von Sayan, Saadet, Kotan, Dilcan, Gündoğdu-Eken, Aslı, Şahbaz, Irmak, Koçoğlu, Cemile, Başak, A Nazlı

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Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient von Kurt, Semiha, Kartal, Ece, Aksoy, Durdane, Cevik, Betul, Eken, Asli Gundogdu, Sahbaz, Irmak, Nazli Basak, A

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The distinct genetic pattern of ALS in Turkey and novel mutations von Özoğuz, Aslıhan, Uyan, Özgün, Birdal, Güneş, Iskender, Ceren, Kartal, Ece, Lahut, Suna, Ömür, Özgür, Agim, Zeynep Sena, Eken, Aslı Gündoğdu, Sen, Nesli Ece, Kavak, Pınar, Saygı, Ceren, Sapp, Peter C, Keagle, Pamela, Parman, Yeşim, Tan, Ersin, Koç, Filiz, Deymeer, Feza, Oflazer, Piraye, Hanağası, Haşmet, Gürvit, Hakan, Bilgiç, Başar, Durmuş, Hacer, Ertaş, Mustafa, Kotan, Dilcan, Akalın, Mehmet Ali, Güllüoğlu, Halil, Zarifoğlu, Mehmet, Aysal, Fikret, Döşoğlu, Nilgün, Bilguvar, Kaya, Günel, Murat, Keskin, Özlem, Akgün, Tahsin, Özçelik, Hilmi, Landers, John E, Brown, Robert H, Başak, A. Nazlı

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FBXO7 – R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family von Gündüz, Ayşegül, Eken, Aslı Gündoğdu, Bilgiç, Başar, Hanagasi, Hasmet A, Bilgüvar, Kaya, Günel, Murat, Başak, A. Nazlı, Ertan, Sibel

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Two Young Sisters with Spinocerebellar Ataxia Type 2 Showing Different Clinical Progression of Disease von Yiş, Uluç, Dirik, Eray, Kurul, Semra Hiz, Eken, Asli Gündoğdu, Başak, A. Nazli

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Bell's palsy and choreiform movements during peginterferon alpha and ribavirin therapy von Barut, Sener, Karaer, Hatice, Oksuz, Erol, Eken, Asli Gündoğdu, Basak, Ayse Nazli

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The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice von 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, Bilgiç, Başar, Eraksoy, Mefkure, Gündüz, Ayşegül, Apaydın, Hülya, Kızıltan, Güneş, Özekmekçi, Sibel, Siva, Aksel, Altıntaş, Ayşe, Kaya Güleç, Zeynep E., Parman, Yeşim, Oflazer, Piraye, Deymeer, Feza, Durmuş, Hacer, Şahin, Erdi, Çakar, Arman, Tüfekçioğlu, Zeynep, Tektürk, Pınar, Çorbalı, M. Osman, Tireli, Hülya, Akdal, Gülden, Yiş, Uluç, Hız, Semra, Şengün, İhsan, Bora, Elçin, Serdaroğlu, Gül, Erer Özbek, Sevda, Ağan, Kadriye, İnce Günal, Dilek, Us, Önder, Kurt, Semiha G., Aksoy, Dürdane, Bora Tokçaer, Ayşe, Elmas, Muhsin, Gültekin, Murat, Kumandaş, Sefer, Acer, Hamit, Kaya Özçora, Gül D., Yayla, Vildan, Soysal, Aysun, Genç, Gençer, Güllüoğlu, Halil, Kotan, Dilcan, Özözen Ayas, Zeynep, Şahin, Hüseyin A., Tan, Ersin, Topçu, Meral, Topçuoğlu, Esen Saka, Akbostancı, Cenk, Koç, Filiz, Ertan, Sibel, Elibol, Bülent, Başak, A. Nazlı

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Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient von Kurt, Semiha, Kartal, Ece, Aksoy, Durdane, Cevik, Betul, Eken, Asli Gundogdu, Sahbaz, Irmak, Nazli Basak, A

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Successful treatment of Juvenile parkinsonism with bilateral subthalamic deep brain stimulation in a 14-year-old patient with parkin gene mutation von Genç, Gençer, Apaydın, Hülya, Gündüz, Ayşegül, Poyraz, Çağrı, Oğuz, Semra, Yağcı, Selin, Canaz, Hüseyin, Aydın, Sabri, Gündoğdu-Eken, Aslı, Başak, Ayşe Nazlı, Ertan, Sibel

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