Rune R. Frants

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe et al. · Cell · 1996 · 2.3K citations · Full text

Channelopathies, Genetic Disorder, Genetics +5

Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

Alexander Kamb, Donna Shattuck-Eidens, Rosalind A. Eeles et al. · Nature Genetics · 1994 · 847 citations

Tumor Biology, Chromosome 9P, Genetics +9

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster et al. · Science · 2010 · 756 citations · Full text

Facioscapulohumeral Muscular Dystrophy, Developmental Biology, Mendelian Disorder +10

A Cacna1a Knockin Migraine Mouse Model with Increased Susceptibility to Cortical Spreading Depression

Arn M. J. M. van den Maagdenberg, Daniela Pietrobon, Tommaso Pizzorusso et al. · Neuron · 2004 · 685 citations · Full text

Psychiatry, Neurophysiology, Cortical Spreading Depression +7

Localization of the gene for Cowden disease to chromosome 10q22–23

Marcel Nelen, G.W. Padberg, E Peeters et al. · Nature Genetics · 1996 · 669 citations

Cowden Disease, Genetics, Pathogenesis +5