Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 4.

Giarrana, Miriam L; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4):668-673.

Klein, Andrea; Robb, Stephanie; Rushing, Elisabeth; Liu, Wei-Wei; Belaya, Kasiaryna; Beeson, David (2015). Congenital Myasthenic Syndrome caused by mutations in DPAGT. Neuromuscular Disorders : NMD, 25(3):253-256.

Burke, Georgina; Hiscock, Andrew; Klein, Andrea; Niks, Erik H; Main, Marion; Manzur, Adnan Y; Ng, Joanne; de Vile, Catherine; Muntoni, Francesco; Beeson, David; Robb, Stephanie (2013). Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders : NMD, 23(2):170-175.

Klein, Andrea; Lillis, Suzanne; Munteanu, Iulia; Scoto, Mariacristina; Zhou, Haiyan; Quinlivan, Ros; Straub, Volker; Manzur, Adnan Y; Roper, Helen; Jeannet, Pierre-Yves; Rakowicz, Wojtek; Jones, David Hilton; Jensen, Uffe Birk; Wraige, Elizabeth; Trump, Natalie; Schara, Ulrike; Lochmuller, Hanns; Sarkozy, Anna; Kingston, Helen; Norwood, Fiona; Damian, Maxwell; Kirschner, Janbernd; Longman, Cheryl; Roberts, Mark; Auer-Grumbach, Michaela; Hughes, Imelda; Bushby, Kate; Sewry, Caroline; Robb, Stephanie; Abbs, Stephen; Jungbluth, Heinz; Muntoni, Francesco (2012). Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Human Mutation, 33(6):981-988.

This list was generated on Thu Oct 18 03:33:33 2018 CEST.