Guy A. Rouleau

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine, Guilherme Munhoz Essenfelder, Zoha Kibar et al. · Nature Genetics · 2000 · 287 citations

Genetic Disorder, Genetics, Pathology +3

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

Ronald G. Lafrenière, Daniel Rochefort, Nathalie Chrétien et al. · Nature Genetics · 1997 · 178 citations

Unstable Insertion, Developmental Biology, Flanking Region +5

Varicella-zoster virus DNA in CSF and arteries in delayed contralateral hemiplegia

Michel Melanson, Colin Chalk, L. Georgevich et al. · Neurology · 1996 · 82 citations

Vasculitis, Ophthalmology, Mr Angiography +12

Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosis

Karen Rooke, Denise A. Figlewicz, Fei‐Yu Han et al. · Neurology · 1996 · 74 citations

Neurological Disorder, Genetics, Disease Gene Identification +18

A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis.

Albéna Pramatarova, Jun Goto, Eiji Nanba et al. · PubMed · 1994 · 69 citations

Sod 1, Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis +7