J. Jay Gargus

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Mariella Simon, Élodie M. Richard, Xinjian Wang et al. · PLoS Genetics · 2015 · 113 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mitochondrial Biogenesis +13

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

William L. Nyhan, J. Jay Gargus, Karen Boyle et al. · European Journal of Pediatrics · 2002 · 97 citations

Transplantation, Neurological Disorder, Medicine +9

Alterations in the α2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2

Laura Segall, Alessandra Mezzetti, Rosemarie Scanzano et al. · Proceedings of the National Academy of Sciences · 2005 · 80 citations · Full text

Kinetic Alterations due to a Missense Mutation in the Na,K-ATPase α2 Subunit Cause Familial Hemiplegic Migraine Type 2

Laura Segall, Rosemarie Scanzano, Mari Kaunisto et al. · Journal of Biological Chemistry · 2004 · 72 citations · Full text

A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2

Mari Kaunisto, Hanna Harno, Kaate R. J. Vanmolkot et al. · Neurogenetics · 2004 · 64 citations

Genetics, Finnish Family, Neurology +2