Nicole I. Wolf

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Marjan E. Steenweg, Adeline Vanderver, Susan Blasér et al. · Brain · 2010 · 283 citations · Full text

Hypomyelination Disorders, Ophthalmology, Neurological Disorder +13

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek, Michael J. B. Krieger, Claudia Stendel et al. · Nature Genetics · 2005 · 248 citations

Mendelian Disorder, Ophthalmology, Genetic Disorder +5

Mitochondrial disorders

Nicole I. Wolf · Neurology · 2002 · 229 citations

Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations

Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk et al. · Neurology · 2014 · 203 citations · Full text

De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

Lieve Claes, Berten Ceulemans, Dominique Audenaert et al. · Human Mutation · 2003 · 202 citations

Scn1a Mutations, Rare Diseases, Major Cause +15