Kaate R. J. Vanmolkot

发表

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

S. Nelson, M. McLellan, R. Baloh, 2007, Nature Genetics.

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine

M. Ferrari, R. Frants, I. Martins, 2007, Journal of Human Genetics.

New discoveries about the second gene for familial hemiplegic migraine, ATP1A2

M. Ferrari, A. M. Maagdenberg, J. Haan, 2003, The Lancet Neurology.

Recent findings in headache genetics

M. Ferrari, R. Frants, A. M. van den Maagdenberg, 2004, Current opinion in neurology.

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

D. Goudie, R. Frants, G. Terwindt, 2009, Epilepsia.

Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family

A. M. van den Maagdenberg, S. Spacey, Kaate R. J. Vanmolkot, 2005, Headache.

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine

M. Ferrari, R. Frants, G. Terwindt, 2007, European Journal of Human Genetics.

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

J. Hottenga, L. Sandkuijl, R. Frants, 2003, Annals of neurology.

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

N. Ramadan, M. Ferrari, M. Dichgans, 2007, Human mutation.

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.

R. Baloh, M. Ferrari, R. Frants, 2009, Archives of neurology.

Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families.

R. Frants, A. M. van den Maagdenberg, M. Peres, 2006, Arquivos de neuro-psiquiatria.

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

M. Ferrari, R. Frants, G. Casari, 2006, European Journal of Human Genetics.

Toward a molecular genetic classification of familial hemiplegic migraine

M. Ferrari, R. Frants, G. Terwindt, 2004, Current pain and headache reports.

The Phe‐124‐Cys and A‐161T Variants of the Human 5‐HT1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan

R. Frants, A. M. van den Maagdenberg, Kaate R. J. Vanmolkot, 2007, Headache.

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

Martin Dichgans, Michael Pusch, Lisa Norris, 2007, Human mutation.