SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

av Yoshida-Moriguchi, Takako, Willer, Tobias, Anderson, Mary E., Venzke, David, Whyte, Tamieka, Muntoni, Francesco, Lee, Hane, Nelson, Stanley F, Yu, Liping, Campbell, Kevin P.
Publicerad 2013

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

av 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
I publikationen Hum Mol Genet (2018)

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

av Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell’Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan
I publikationen Am J Hum Genet (2017)