Inflammatory Demyelinating Diseases of Childhood: Case Report and Literature Review

Por EKİZOĞLU, Esme, TEKTÜRK TOPALOĞLU, Pınar, YAPICI, Zuhal, ERAKSOY, Mefkûre
Publicado no Noro Psikiyatr Ars (2014)

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

Por Burns, Randi, Majczenko, Karen, Xu, Jishu, Peng, Weiping, Yapici, Zuhal, Dowling, James J., Li, Jun Z., Burmeister, Margit
Publicado no Neurology (2014)

A role of autophagy in spinocerebellar ataxia—Rare exception or general principle?

Por Burmeister, Margit, Lee, Jun-Hee, Schulman, Brenda A., Yapici, Zuhal, Tolun, Aslıhan, Juhasz, Gabor, Li, Jun Z., Klionsky, Daniel J.
Publicado no Autophagy (2016)

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

The relationship between Willis-Ekbom disease and serum ferritin levels among children in Northwestern Turkey

Por Halac, Gulistan, Sezer, Gulsen M., Saglam, Neslihan O., Tekturk, Pinar, Demir, Aysegul D., Demir, Saliha, Akcay, Faruk, Uslu, Aysegul, Yapıcı, Zuhal, Asil, Talip
Publicado no Neurosciences (Riyadh) (2015)

Abnormal Red Cell Structure and Function in Neuroacanthocytosis

Por Cluitmans, Judith C. A., Tomelleri, Carlo, Yapici, Zuhal, Dinkla, Sip, Bovee-Geurts, Petra, Chokkalingam, Venkatachalam, De Franceschi, Lucia, Brock, Roland, Bosman, Giel J. G. C. M.
Publicado no PLoS One (2015)

Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis

Por Siegl, Claudia, Hamminger, Patricia, Jank, Herbert, Ahting, Uwe, Bader, Benedikt, Danek, Adrian, Gregory, Allison, Hartig, Monika, Hayflick, Susan, Hermann, Andreas, Prokisch, Holger, Sammler, Esther M., Yapici, Zuhal, Prohaska, Rainer, Salzer, Ulrich
Publicado em 2013

Correction: Alterations of Red Cell Membrane Properties in Neuroacanthocytosis

Por Siegl, Claudia, Hamminger, Patricia, Jank, Herbert, Ahting, Uwe, Bader, Benedikt, Danek, Adrian, Gregory, Allison, Hartig, Monika, Hayflick, Susan, Hermann, Andreas, Prokisch, Holger, Sammler, Esther M., Yapici, Zuhal, Prohaska, Rainer, Salzer, Ulrich
Publicado em 2013

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Por Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.
Publicado em 2009

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

Por Kim, Myungjin, Sandford, Erin, Gatica, Damian, Qiu, Yu, Liu, Xu, Zheng, Yumei, Schulman, Brenda A, Xu, Jishu, Semple, Ian, Ro, Seung-Hyun, Kim, Boyoung, Mavioglu, R Nehir, Tolun, Aslıhan, Jipa, Andras, Takats, Szabolcs, Karpati, Manuela, Li, Jun Z, Yapici, Zuhal, Juhasz, Gabor, Lee, Jun Hee, Klionsky, Daniel J, Burmeister, Margit
Publicado no eLife (2016)

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Por Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo
Publicado em 2014