Patricia Kramer

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

D.L. Browne, Stephen T. Gancher, John G. Nutt et al. · Nature Genetics · 1994 · 776 citations

Life Sciences, Genetics, Molecular Genetics +16

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton et al. · Nature Genetics · 2006 · 538 citations · Full text

Life Sciences, Neurology, Neuroscience +8

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

Neil Risch, Deborah de Leon, Laurie J. Ozelius et al. · Nature Genetics · 1995 · 431 citations

Life Sciences, Genetics, Neurology +13

APOE ϵ4 Increases Risk for Dementia in Pure Synucleinopathies

Debby W. Tsuang, James B. Leverenz, Oscar L. López et al. · JAMA Neurology · 2012 · 397 citations

Life Sciences, Genetics, Neurology +17

Autosomal-Dominant Congenital Cataract Associated with a Deletion Mutation in the Human Beaded Filament Protein Gene BFSP2

Petra Jakobs, John F. Hess, Paul G. Fitzgerald et al. · The American Journal of Human Genetics · 2000 · 179 citations · Full text

Medicine, Genetics, Molecular Genetics +14