Margaret A. Pericak‐Vance

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.6K citations · Full text

Life Sciences, Genetics, Neurology +11

A Mutation in the <i>TRPC6</i> Cation Channel Causes Familial Focal Segmental Glomerulosclerosis

Michelle P. Winn, Peter J. Conlon, Kelvin L. Lynn et al. · Science · 2005 · 1.1K citations

Medicine, Molecular Genetics, Nephrology +17

A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

Evan Reid, Mark Kloos, Allison E. Ashley‐Koch et al. · The American Journal of Human Genetics · 2002 · 540 citations · Full text

Life Sciences, Neurology, Neuroscience +13

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

Joelle M. van der Walt, Kristin K. Nicodemus, Eden R. Martin et al. · The American Journal of Human Genetics · 2003 · 537 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Rachel V. Baxter, Kamel Ben Othmane, Julie M. Rochelle et al. · Nature Genetics · 2001 · 369 citations

Life Sciences, Genetics, Neuroscience +10