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Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Michael Zech, Daniel D. Lam, Ludmila Francescatto, Barbara Schormair, Aaro V. Salminen, Angela Jochim, Thomas Wieland, Peter Lichtner, Annette Peters, Christian Gieger, Hanns Lochmüller, Tim M. Strom, Bernhard Haslinger, Nicholas Katsanis, Juliane Winkelmann

American Journal of Human Genetics – May, 2015

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

Boglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, Sinead M. Murphy, John McHugh, Michael Alexander, Richard Wells, Joanna Davies, David Hilton-Jones, Hanns Lochmüller, Patrick Chinnery, Rita Horvath

Journal of Neurology – June, 2015

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

S Figueroa-Bonaparte, J Hudson, R Barresi, T Polvikoski, T Williams, A Töpf, E Harris, D Hilton-Jones, R Petty, T A Willis, C Longman, C F Dougan, M J Parton, M G Hanna, R Quinlivan, M E Farrugia, M Guglieri, K Bushby, V Straub, H Lochmüller, T Evangelista

Journal of Neurology, Neurosurgery and Psychiatry – June, 2015

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