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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