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Publications for Auer-Grumbach, M

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Number of items: 6.

2013

Auer-Grumbach, Michaela; Bode, Heiko; Pieber, Thomas R; Schabhüttl, Maria; Fischer, Dirk; Seidl, Rainer; Graf, Elisabeth; Wieland, Thomas; Schuh, Reinhard; Vacariu, Gerda; Grill, Franz; Timmerman, Vincent; Strom, Tim M; Hornemann, Thorsten (2013). Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. European Journal of Medical Genetics, 56(5):266-269.

2012

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.

Fischer, Carina; Trajanoski, Slave; Papić, Lea; Windpassinger, Christian; Bernert, Günther; Freilinger, Michael; Schabhüttl, Maria; Arslan-Kirchner, Mine; Javaher-Haghighi, Poupak; Plecko, Barbara; Senderek, Jan; Rauscher, Christian; Löscher, Wolfgang N; Pieber, Thomas R; Janecke, Andreas R; Auer-Grumbach, Michaela (2012). SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. Journal of Neurology, 259(3):515-523.

2011

Rotthier, A; Penno, A; Rautenstrauss, B; Auer-Grumbach, M; Stettner, G M; Asselbergh, B; Van Hoof, K; Sticht, H; Lévy, N; Timmerman, V; Hornemann, T; Janssens, K (2011). Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Human Mutation, 32(6):E2211-E2225.

2010

Zimoń, M; Baets, J; Auer-Grumbach, M; et al; Boltshauser, E (2010). Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain: A Journal of Neurology, 133(Pt 6):1798-1809.

Rotthier, A; Auer-Grumbach, M; Janssens, K; Baets, J; Penno, A; Almeida-Souza, L; Van Hoof, K; Jacobs, A; De Vriendt, E; Schlotter-Weigel, B; Löscher, W; Vondráček, P; Seemann, P; De Jonghe, P; Van Dijck, P; Jordanova, A; Hornemann, T; Timmerman, V (2010). Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. American Journal of Human Genetics, 87(4):513-522.

This list was generated on Mon Oct 23 15:39:01 2017 CEST.