New-Onset Ocular Myasthenia after Multisystem Inflammatory Syndrome in Children

por Yavuz, Pınar, Demir, Osman Oguz, Ozsurekci, Yasemin, Ozen, Seza, Anlar, Banu, Haliloglu, Goknur
Publicado 2022

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

por 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
Publicado 2020

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

por 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
Publicado 2019

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

por 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.
Publicado 2021

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

por 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
Publicado 2014

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

por 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
Publicado 2015