Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Anne Joutel, Christophe Corpechot, Anne Ducros et al. · Nature · 1996 · 2.1K citations

Life Sciences, Genetics, Neurology +14

The phenotypic spectrum of CADASIL: Clinical findings in 102 cases

Martin Dichgans, M. Mayer, Ingo Uttner et al. · Annals of Neurology · 1998 · 734 citations

Medicine, Neurology, Neuroscience +13

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

Anne Joutel, Katayoun Vahedi, Christophe Corpechot et al. · The Lancet · 1997 · 684 citations

Life Sciences, Genetics, Molecular Genetics +13

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

Anne Joutel, Pascal Favrole, Pierre Labauge et al. · The Lancet · 2001 · 254 citations

Medicine, Dermatology, Pathology +9

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype

Shailvi Singhal · Brain · 2004 · 220 citations

Life Sciences, Genetics, Neurology +15