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

Motor protein mutations cause a new form of hereditary spastic paraplegia

Por Caballero Oteyza, Andrés, Battaloğlu, Esra, Ocek, Levent, Lindig, Tobias, Reichbauer, Jennifer, Rebelo, Adriana P., Gonzalez, Michael A., Zorlu, Yasar, Ozes, Burcak, Timmann, Dagmar, Bender, Benjamin, Woehlke, Günther, Züchner, Stephan, Schöls, Ludger, Schüle, Rebecca
Publicado em 2014

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Por Okamoto, Yuji, Goksungur, Meryem Tuba, Pehlivan, Davut, Beck, Christine R., Gonzaga-Jauregui, Claudia, Muzny, Donna M., Atik, Mehmed M., Carvalho, Claudia M.B., Matur, Zeliha, Bayraktar, Serife, Boone, Philip M., Akyuz, Kaya, Gibbs, Richard A., Battaloglu, Esra, Parman, Yesim, Lupski, James R.
Publicado no Genet Med (2013)

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Por Stendel, Claudia , Roos, Andreas , Deconinck, Tine , Pereira, Jorge , Castagner, François , Niemann, Axel , Kirschner, Janbernd , Korinthenberg, Rudolf , Ketelsen, Uwe-Peter , Battaloglu, Esra , Parman, Yesim , Nicholson, Garth , Ouvrier, Robert , Seeger, Jürgen , Jonghe, Peter De , Weis, Joachim , Krüttgen, Alexander , Rudnik-Schöneborn, Sabine , Bergmann, Carsten , Suter, Ueli , Zerres, Klaus , Timmerman, Vincent , Relvas, João B. , Senderek, Jan 
Publicado em 2007

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

Por Zimoń, Magdalena, Battaloǧlu, Esra, Parman, Yesim, Erdem, Sevim, Baets, Jonathan, De Vriendt, Els, Atkinson, Derek, Almeida-Souza, Leonardo, Deconinck, Tine, Ozes, Burcak, Goossens, Dirk, Cirak, Sebahattin, Van Damme, Philip, Shboul, Mohammad, Voit, Thomas, Van Maldergem, Lionel, Dan, Bernard, El-Khateeb, Mohammed S., Guergueltcheva, Velina, Lopez-Laso, Eduardo, Goemans, Nathalie, Masri, Amira, Züchner, Stephan, Timmerman, Vincent, Topaloǧlu, Haluk, De Jonghe, Peter, Jordanova, Albena
Publicado no Neurogenetics (2014)

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Por Senderek, Jan, Bergmann, Carsten, Stendel, Claudia, Kirfel, Jutta, Verpoorten, Nathalie, De Jonghe, Peter, Timmerman, Vincent, Chrast, Roman, H. G. Verheijen, Mark, Lemke, Greg, Battaloglu, Esra, Parman, Yesim, Erdem, Sevim, Tan, Ersin, Topaloglu, Haluk, Hahn, Andreas, Müller-Felber, Wolfgang, Rizzuto, Nicolò, Fabrizi, Gian Maria, Stuhrmann, Manfred, Rudnik-Schöneborn, Sabine, Züchner, Stephan, Michael Schröder, J., Buchheim, Eckhard, Straub, Volker, Klepper, Jörg, Huehne, Kathrin, Rautenstrauss, Bernd, Büttner, Reinhard, Nelis, Eva, Zerres, Klaus
Publicado em 2003

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Por Baets, Jonathan, Deconinck, Tine, De Vriendt, Els, Zimoń, Magdalena, Yperzeele, Laetitia, Van Hoorenbeeck, Kim, Peeters, Kristien, Spiegel, Ronen, Parman, Yesim, Ceulemans, Berten, Van Bogaert, Patrick, Pou-Serradell, Adolf, Bernert, Günther, Dinopoulos, Argirios, Auer-Grumbach, Michaela, Sallinen, Satu-Leena, Fabrizi, Gian Maria, Pauly, Fernand, Van den Bergh, Peter, Bilir, Birdal, Battaloglu, Esra, Madrid, Ricardo E., Kabzińska, Dagmara, Kochanski, Andrzej, Topaloglu, Haluk, Miller, Geoffrey, Jordanova, Albena, Timmerman, Vincent, De Jonghe, Peter
Publicado em 2011

Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy

Por Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie B., Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini, Bainbridge, Matthew N., Lawson, Kim S., Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela J, Goksungur, Meryem T., Shy, Michael, Crawford, Thomas O., Koenig, Michel, Willer, Jason, Flores, Brittany N., Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna M., Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Publicado no Cell Rep (2015)

A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

Por Yamamoto, Shinya, Jaiswal, Manish, Charng, Wu-Lin, Gambin, Tomasz, Karaca, Ender, Mirzaa, Ghayda, Wiszniewski, Wojciech, Sandoval, Hector, Haelterman, Nele A., Xiong, Bo, Zhang, Ke, Bayat, Vafa, David, Gabriela, Li, Tongchao, Chen, Kuchuan, Gala, Upasana, Harel, Tamar, Pehlivan, Davut, Penney, Samantha, Vissers, Lisenka E. L. M., de Ligt, Joep, Jhangiani, Shalini, Xie, Yajing, Tsang, Stephen H., Parman, Yesim, Sivaci, Merve, Battaloglu, Esra, Muzny, Donna, Wan, Ying-Wooi, Liu, Zhandong, Lin-Moore, Alexander T., Clark, Robin D., Curry, Cynthia J., Link, Nichole, Schulze, Karen L., Boerwinkle, Eric, Dobyns, William B., Allikmets, Rando, Gibbs, Richard A., Chen, Rui, Lupski, James R., Wangler, Michael F., Bellen, Hugo J.
Publicado no Cell (2014)