Simon Edvardson

Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova et al. · The American Journal of Human Genetics · 2007 · 331 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

Simon Edvardson, Yuval Cinnamon, Asaf Ta‐Shma et al. · PLoS ONE · 2012 · 319 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

Michael C. Kruer, Coro Paisán-Ruı́z, Nathalie Boddaert et al. · Annals of Neurology · 2010 · 233 citations

Life Sciences, Genetics, Neurology +17

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Simon Edvardson, Hiroko Hama, Avraham Shaag et al. · The American Journal of Human Genetics · 2008 · 218 citations · Full text

Life Sciences, Genetics, Neurology +11

Exome sequencing and disease-network analysis of a single family implicate a mutation in <i>KIF1A</i> in hereditary spastic paraparesis

Yaniv Erlich, Simon Edvardson, Emily Hodges et al. · Genome Research · 2011 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17