Anine H Stam

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

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Anine H Stam, Parul H. Kothari, Aisha Shaikh et al. · Brain · 2016 · 173 citations · Full text

Medicine, Genetics, Neurology +16

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

Boukje de Vries, Hafsa Mamsa, Anine H Stam et al. · Archives of Neurology · 2009 · 147 citations · Full text

Life Sciences, Genetics, Neurology +13

The novel p.L1649Q mutation in the<i>SCN1A</i>epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

Kaate R. J. Vanmolkot, Elena Babini, Boukje de Vries et al. · Human Mutation · 2007 · 106 citations

Life Sciences, Genetics, Neurology +17

Familial and Sporadic Hemiplegic Migraine: Diagnosis and Treatment

Nadine Pelzer, Anine H Stam, Joost Haan et al. · Current Treatment Options in Neurology · 2012 · 97 citations

Life Sciences, Neurology, Neuroscience +12