Agnès Camuzat

Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

Dominique Campion, Cécile Dumanchin, Didier Hannequin et al. · The American Journal of Human Genetics · 1999 · 784 citations · Full text

Alzheimer's Disease, Dementia, Genetics +8

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 443 citations

Ocular Disease, Retina, Mendelian Disorder +5

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

Isabelle Le Ber, Agnès Camuzat, Didier Hannequin et al. · Brain · 2008 · 344 citations

Corticobasal Degeneration, Genetics, Brain Perfusion Profiles +22

<i>TARDBP</i> mutations in motoneuron disease with frontotemporal lobar degeneration

Lina Benajiba, Isabelle Le Ber, Agnès Camuzat et al. · Annals of Neurology · 2009 · 301 citations

Corticobasal Degeneration, Genetics, Tardbp Mutations +18

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Katrina Moore, Jennifer Nicholas, Murray Grossman et al. · The Lancet Neurology · 2019 · 296 citations · Full text

Disease Duration, Neurodegenerative Diseases, Alzheimer's Disease +15