Do the physiotherapy results make us happy in a case with ‘happy puppet’ (Angelman) syndrome?

由 Kara, Ozgun Kaya, Mutlu, Akmer, Gunel, Mintaze Kerem, Haliloglu, Goknur
出版 2010

Additional diverse findings expand the clinical presentation of DOCK8 deficiency

由 Sanal, Ozden, Jing, Huie, Ozgur, Tuba, Ayvaz, Deniz, Strauss-Albee, Dara M., Ersoy-Evans, Sibel, Tezcan, Ilhan, Turkkani, Gulten, Matthews, Helen F., Haliloglu, Goknur, Yuce, Aysel, Yalcin, Bilgehan, Gokoz, Ozay, Oguz, Kader K., Su, Helen C.
出版 2012

Genetic Landscape of congenital myasthenic syndromes from Turkey: Novel mutations and clinical insights

由 Yiş, Uluç, Becker, Kerstin, Kurul, Semra Hız, Uyanik, Gökhan, Bayram, Erhan, Haliloğlu, Göknur, Polat, Ayşe İpek, Ayanoğlu, Müge, Okur, Derya, Tosun, Ayşe Fahriye, Serdaroğlu, Gül, Yilmaz, Sanem, Topaloğlu, Haluk, Anlar, Banu, Cirak, Sebahattin, Engel, Andrew G.
發表在 J Child Neurol (2017)

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

由 Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.
出版 2014

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

由 Silwal, Arpana, Sarkozy, Anna, Scoto, Mariacristina, Ridout, Deborah, Schmidt, Anne, Laverty, Aidan, Henriques, Matilde, D'Argenzio, Luigi, Main, Marion, Mein, Rachael, Manzur, Adnan Y, Abel, Francois, Al‐Ghamdi, Fouad, Genetti, Casie A, Ardicli, Didem, Haliloglu, Goknur, Topaloglu, Haluk, Beggs, Alan H, Muntoni, Francesco
發表在 Ann Clin Transl Neurol (2020)

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

由 Naumann, Marcel, Peikert, Kevin, Günther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Hübers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan‐Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Göknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., Hermann, Andreas
發表在 Ann Clin Transl Neurol (2019)

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

由 Ravenscroft, Gianina, Zaharieva, Irina T, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley, Whyte, Tamieka, Consortium, UK10K, Manzur, Adnan, Talim, Beril, Kaya, Ulkuhan, Osborn, Daniel P S, Forrest, Alistair R R, Laing, Nigel G, Muntoni, Francesco
發表在 Hum Mol Genet (2018)

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

由 Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
發表在 J Inherit Metab Dis (2021)

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

由 Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam
出版 2014

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

由 Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
出版 2013

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

由 Todd, Emily J., Yau, Kyle S., Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P., Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F., Freckmann, Mary-Louise, Romero, Norma B., Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M., Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J.N., Beeson, David, Maxwell, Susan, Davis, Mark R., Laing, Nigel G., Ravenscroft, Gianina
發表在 Orphanet J Rare Dis (2015)

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

由 Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hirotomo, Osaka, Hitoshi, Yamashita, Sumimasa, Ohya, Takashi, Sakamoto, Yuko, Koshimizu, Eriko, Imamura, Shintaro, Yamashita, Michiaki, Ogata, Kazuhiro, Shiina, Masaaki, Bryson-Richardson, Robert J., Vaz, Raquel, Ceyhan, Ozge, Brownstein, Catherine A., Swanson, Lindsay C., Monnot, Sophie, Romero, Norma B., Amthor, Helge, Kresoje, Nina, Sivadorai, Padma, Kiraly-Borri, Cathy, Haliloglu, Goknur, Talim, Beril, Orhan, Diclehan, Kale, Gulsev, Charles, Adrian K., Fabian, Victoria A., Davis, Mark R., Lammens, Martin, Sewry, Caroline A., Manzur, Adnan, Muntoni, Francesco, Clarke, Nigel F., North, Kathryn N., Bertini, Enrico, Nevo, Yoram, Willichowski, Ekkhard, Silberg, Inger E., Topaloglu, Haluk, Beggs, Alan H., Allcock, Richard J.N., Nishino, Ichizo, Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Laing, Nigel G.
出版 2013