Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

por Mroczek, Magdalena, Durmus, Hacer, Töpf, Ana, Parman, Yesim, Straub, Volker
Publicado 2020

Genotypic and phenotypic presentation of Glu89Gln mutation in Turkey

por Durmus, Hacer, Matur, Zeliha, Atmaca, Murat Mert, Poda, Mehves, Cakar, Arman, Serdaroglu-Oflazer, Piraye, Deymeer, Feza, Parman, Yesim
Publicado 2015

Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

por Candayan, Ayşe, Çakar, Arman, Yunisova, Gulshan, Özdağ Acarlı, Ayşe Nur, Atkinson, Derek, Topaloğlu, Pınar, Durmuş, Hacer, Yapıcı, Zuhal, Jordanova, Albena, Parman, Yeşim, Battaloğlu, Esra
Publicado 2021

Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK

por Yilmaz, Vuslat, Oflazer, Piraye, Aysal, Fikret, Durmus, Hacer, Poulas, Kostas, Yentur, Sibel P., Gulsen-Parman, Yesim, Tzartos, Socrates, Marx, Alexander, Tuzun, Erdem, Deymeer, Feza, Saruhan-Direskeneli, Güher
Publicado 2015

CD4(+) T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS

por Çebi, Merve, Durmus, Hacer, Aysal, Fikret, Özkan, Berker, Gül, Gizem Engin, Çakar, Arman, Hocaoglu, Mehmet, Mercan, Metin, Yentür, Sibel P., Tütüncü, Melih, Yayla, Vildan, Akan, Onur, Dogan, Öner, Parman, Yeşim, Saruhan-Direskeneli, Güher
Publicado 2020

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

por Johnson, Katherine, De Ridder, Willem, Töpf, Ana, Bertoli, Marta, Phillips, Lauren, De Jonghe, Peter, Baets, Jonathan, Deconinck, Tine, Rakocevic Stojanovic, Vidosava, Perić, Stojan, Durmus, Hacer, Jamal-Omidi, Shirin, Nafissi, Shahriar, Mongini, Tiziana, Łusakowska, Anna, Busby, Mark, Miller, James, Norwood, Fiona, Hudson, Judith, Barresi, Rita, Lek, Monkol, MacArthur, Daniel G, Straub, Volker
Publicado 2019

Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis

por Elsnicova, Barbara, Hornikova, Daniela, Tibenska, Veronika, Kolar, David, Tlapakova, Tereza, Schmid, Benjamin, Mallek, Markus, Eggers, Britta, Schlötzer-Schrehardt, Ursula, Peeva, Viktoriya, Berwanger, Carolin, Eberhard, Bettina, Durmuş, Hacer, Schultheis, Dorothea, Holtzhausen, Christian, Schork, Karin, Marcus, Katrin, Jordan, Jens, Lücke, Thomas, van der Ven, Peter F. M., Schröder, Rolf, Clemen, Christoph S., Zurmanova, Jitka M.
Publicado 2022

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

por Scalco, Renata S., Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Voermans, Nicol C., Kouwenberg, Carlyn V., Laforêt, Pascal, San-Millán, Beatriz, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebeca, Sacconi, Sabrina, Stemmerik, Mads G., Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L., Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John
Publicado 2020

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

por Karazi, Walaa, Scalco, Renata S., Stemmerik, Mads G., Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V., Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L., Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, Voermans, Nicol C.
Publicado 2023

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb...

por Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G., De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E., Lek, Monkol, MacArthur, Daniel G., Straub, Volker
Publicado 2018