The role of mutations in COL6A3 in isolated dystonia

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in <i>Col4a1</i> Cause Perinatal Cerebral Hemorrhage and Porencephaly

Douglas B. Gould, F. Campbell Phalan, Guido J. Breedveld et al. · Science · 2005 · 531 citations

Life Sciences, Genetics, Neuroscience +17

Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease

Katja Hedrich, Johann Hagenah, Ana Djarmati et al. · Archives of Neurology · 2006 · 134 citations · Full text

Life Sciences, Genetics, Neurology +17

Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

Gavin Charlesworth, Plamena R. Angelova, Mina Ryten et al. · The American Journal of Human Genetics · 2015 · 102 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Michael Zech, Daniel D. Lam, Ludmila Francescatto et al. · The American Journal of Human Genetics · 2015 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10