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Jump to: 2020
Number of items: 2.

2020

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

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