Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

por Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda
Publicado 2019

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

por Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara
Publicado 2017