Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

Por ELMALI, Ayşe Deniz, ÇETİNÇELİK, Ümran, IŞLAK, Civan, UZUN ADATEPE, Nurten, KARAALİ SAVRUN, Feray, YALÇINKAYA, Cengiz
Publicado no Noro Psikiyatr Ars (2016)

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

Por Zubarioglu, Tanyel, Kiykim, Ertugrul, Zeybek, Cigdem Aktuglu, Cansever, Mehmet Serif, Benbir, Gulcin, Aydin, Ahmet, Yalcinkaya, Cengiz
Publicado no Ann Indian Acad Neurol (2015)

Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22q(tel)

Por Topçu, Meral, Gartioux, Corine, Ribierre, Florence, Yalçinkaya, Cengiz, Tokus, Erem, Öztekin, Nese, Beckmann, Jacques S., Ozguc, Meral, Seboun, Eric
Publicado em 2000

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

Por Bilir, Birdal, Yapici, Zuhal, Yalcinkaya, Cengiz, Baris, Ibrahim, Carvalho, Claudia M. B., Bartnik, Magdalena, Ozes, Burcak, Eraksoy, Mefkure, Lupski, James R., Battaloglu, Esra
Publicado em 2012

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

Por Tuysuz, Beyhan, Pehlivan, Davut, Özkök, Ahmet, Jhangiani, Shalini, Yalcinkaya, Cengiz, Zeybek, Çiğdem Aktuğlu, Muzny, Donna Marie, Lupski, James R., Gibbs, Richard, Jaeken, Jaak
Publicado no JIMD Rep (2015)

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

Por Hamilton, Eline M.C., Tekturk, Pinar, Cialdella, Fia, van Rappard, Diane F., Wolf, Nicole I., Yalcinkaya, Cengiz, Çetinçelik, Ümran, Rajaee, Ahmad, Kariminejad, Ariana, Paprocka, Justyna, Yapici, Zuhal, Bošnjak, Vlatka Mejaški, van der Knaap, Marjo S.
Publicado no Neurology (2018)

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

Por Bilguvar, Kaya, Tyagi, Navneet K., Ozkara, Cigdem, Tuysuz, Beyhan, Bakircioglu, Mehmet, Choi, Murim, Delil, Sakir, Caglayan, Ahmet O., Baranoski, Jacob F., Erturk, Ozdem, Yalcinkaya, Cengiz, Karacorlu, Murat, Dincer, Alp, Johnson, Michele H., Mane, Shrikant, Chandra, Sreeganga S., Louvi, Angeliki, Boggon, Titus J., Lifton, Richard P., Horwich, Arthur L., Gunel, Murat
Publicado em 2013

Recessive LAMC3 mutations cause malformations of occipital cortical development

Por Barak, Tanyeri, Kwan, Kenneth Y, Louvi, Angeliki, Demirbilek, Veysi, Saygı, Serap, Tüysüz, Beyhan, Choi, Murim, Boyacı, Hüseyin, Doerschner, Katja, Zhu, Ying, Kaymakçalan, Hande, Yılmaz, Saliha, Bakırcıoğlu, Mehmet, Çağlayan, Ahmet Okay, Öztürk, Ali Kemal, Yasuno, Katsuhito, Brunken, William J, Atalar, Ergin, Yalçınkaya, Cengiz, Dinçer, Alp, Bronen, Richard A, Mane, Shrikant, Özçelik, Tayfun, Lifton, Richard P, Šestan, Nenad, Bilgüvar, Kaya, Günel, Murat
Publicado em 2011

Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Por Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y, Choi, Murim, Tatli, Burak, Yalnizoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakircioğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yilmaz, Sanem, Dinçer, Alp, Johnson, Michele H, Bronen, Richard A, Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçinkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P, State, Matthew W, Günel, Murat
Publicado em 2010

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Por Schaffer, Ashleigh E., Eggens, Veerle R.C., Caglayan, Ahmet Okay, Reuter, Miriam S., Scott, Eric, Coufal, Nicole G., Silhavy, Jennifer L., Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R., Cazemier, J. Leonie, Weterman, Marian A., Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N. Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher, Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, Gleeson, Joseph G.
Publicado em 2014