Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

por Dafsari, Hormos Salimi, Kocaturk, Nur Mehpare, Daimagüler, Hülya-Sevcan, Brunn, Anna, Dötsch, Jörg, Weis, Joachim, Deckert, Martina, Cirak, Sebahattin
Publicado 2019

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

por Wang, Haicui, Schänzer, Anne, Kampschulte, Birgit, Daimagüler, Hülya-Sevcan, Logeswaran, Thushiha, Schlierbach, Hannah, Petzinger, Jutta, Ehrhardt, Harald, Hahn, Andreas, Cirak, Sebahattin
Publicado 2018

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

por Sprute, Rosanne, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagüler, Hülya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral, Cirak, Sebahattin
Publicado 2019

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey

por YİŞ, ULUÇ, DİNİZ, GÜLDEN, HAZAN, FILIZ, DAİMAGÜLER, HÜLYA SEVCAN, BAYSAL, BAHAR TOKLU, BAYDAN, FIGEN, AKINCI, GÜLÇIN, ÜNALP, AYCAN, AKTAN, GÜL, BAYRAM, ERHAN, HIZ, SEMRA, PAKETÇİ, CEM, OKUR, DERYA, ÖZER, ERDENER, DANYELİ, AYÇA ERSEN, POLAT, MUZAFFER, UYANIK, GÖKHAN, ÇIRAK, SEBAHATTIN
Publicado 2018

Making sense of missense variants in TTN-related congenital myopathies

por Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Özdemir, Özkan, Daimagüler, Hülya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joël, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma, Hanna, Michael, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schröder, Rolf, Thiel, Christian, Reimann, Jens, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Domínguez-González, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz, Gautel, Mathias
Publicado 2021