Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | No Grouping
Number of items: 3.

Journal Article

De Ridder, Willem, Azmi, Abdelkrim, Clemen, Christoph S., Eichinger, Ludwig, Hofmann, Andreas, Schroeder, Rolf, Johnson, Katherine ORCID: 0000-0002-3593-7966, Topf, Ana, Straub, Volker ORCID: 0000-0001-9046-3540, De Jonghe, Peter, Maudsley, Stuart, De Bleecker, Jan L. and Baets, Jonathan (2020). Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected. Neurology, 94 (8). S. E785 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Hicks, Debbie, Farsani, Golara Torabi, Laval, Steven, Collins, James, Sarkozy, Anna, Martoni, Elena, Shah, Ashoke, Zou, Yaqun, Koch, Manuel ORCID: 0000-0002-2962-7814, Boennemann, Carsten G., Roberts, Mark, Lochmueller, Hanns, Bushby, Kate and Straub, Volker ORCID: 0000-0001-9046-3540 (2014). Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum. Mol. Genet., 23 (9). S. 2353 - 2364. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Zou, Yaqun, Zwolanek, Daniela, Izu, Yayoi, Gandhy, Shreya, Schreiber, Gudrun, Brockmann, Knut, Devoto, Marcella, Tian, Zuozhen, Hu, Ying, Veit, Guido ORCID: 0000-0002-6758-2696, Meier, Markus ORCID: 0000-0003-1068-746X, Stetefeld, Joerg ORCID: 0000-0003-1478-3248, Hicks, Debbie, Straub, Volker ORCID: 0000-0001-9046-3540, Voermans, Nicol C., Birk, David E., Barton, Elisabeth R., Koch, Manuel ORCID: 0000-0002-2962-7814 and Boennemann, Carsten G. (2014). Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum. Mol. Genet., 23 (9). S. 2339 - 2353. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

This list was generated on Sat Dec 3 07:10:39 2022 CET.