Iris Smouts

Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients

Arvid Suls, Kristl G. Claeys, D. Goossens et al. · Human Mutation · 2006 · 115 citations

Life Sciences, Genetics, Molecular Genetics +17

Evidence That Aβ42 Plasma Levels in Presenilin-1 Mutation Carriers Do not Allow for Prediction of Their Clinical Phenotype

C. De Jonghe, Patrick Cras, Hugo Vanderstichele et al. · Neurobiology of Disease · 1999 · 45 citations · Full text

Life Sciences, Genetics, Neurology +11

<i>SPTLC1</i> mutation in twin sisters with hereditary sensory neuropathy type I

K. Verhoeven, Katrien Coen, Els De Vriendt et al. · Neurology · 2004 · 40 citations

Life Sciences, Genetics, Molecular Genetics +12

PRRT2 mutations: exploring the phenotypical boundaries

Tania Djémié, Sarah Weckhuysen, Per Holmgren et al. · Journal of Neurology Neurosurgery & Psychiatry · 2013 · 30 citations

Life Sciences, Genetics, Neurology +17

Partial deletion of <i>AFG3L2</i> causing spinocerebellar ataxia type 28

Katrien Smets, Tine Deconinck, Jonathan Baets et al. · Neurology · 2014 · 29 citations

Medicine, Genetics, Neurology +17