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Journal Article
Becker, Lena-Luise ORCID: 0000-0003-4622-8695, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas
ORCID: 0000-0002-0119-5896, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya
ORCID: 0000-0001-9439-4677, von der Hagen, Maja and Cirak, Sebahattin
(2020).
The clinical-phenotype continuum inDYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
J. Hum. Genet., 65 (11).
S. 1003 - 1018.
LONDON:
SPRINGERNATURE.
ISSN 1435-232X
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
Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xaviere, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Veronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Topf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Bohm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara ORCID: 0000-0001-9027-343X, Salpietro, Vincenzo, Darin, Niklas, Faure, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten
ORCID: 0000-0002-4734-9352 and Boennemann, Carsten G.
(2020).
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am. J. Hum. Genet., 107 (6).
S. 1078 - 1096.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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