Joost Haan

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

Life Sciences, Neurology, Neuroscience +16

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen et al. · Nature Genetics · 2007 · 452 citations

Life Sciences, Genetics, Molecular Biology +8

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 423 citations · Full text

Life Sciences, Genetics, Neurology +9

Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

E. E. Kors, Gisela M. Terwindt, F Vermeulen et al. · Annals of Neurology · 2001 · 361 citations

Life Sciences, Genetics, Neurology +12

Novel mutations in the Na⁺, K⁺‐ATPase pump gene <i>ATP1A2</i> associated with familial hemiplegic migraine and benign familial infantile convulsions

Kaate R. J. Vanmolkot, E. E. Kors, Jouke‐Jan Hottenga et al. · Annals of Neurology · 2003 · 360 citations

Life Sciences, Genetics, Neurology +17