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Showing 1–6 of 6 results

Advanced filters: Author: Agnès Camuzat Clear advanced filters

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

Isabella Perrault
Jean Michel Rozet
Josseline Kaplan
Research01 Dec 1996
Nature Genetics

Volume: 14, P: 461-464
APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population

Laurence Zurutuza
Patrice Verpillat
Thierry Frebourg
Research31 Aug 2000
European Journal of Human Genetics

Volume: 8, P: 713-716
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Salim Megat
Natalia Mora
Luc Dupuis
Amendments and CorrectionsOpen Access04 Dec 2023
Nature Communications

Volume: 14, P: 1-3
Integrative genetic analysis illuminates ALS heritability and identifies risk genes

ALS is somewhat heritable, but the genetic basis is not completely understood. Here, the authors identify alterations in splicing in neurons associated with amyotrophic lateral sclerosis and uncover several associated genetic loci, with a potential link to nuclear pore defects.

Salim Megat
Natalia Mora
Luc Dupuis
ResearchOpen Access20 Jan 2023
Nature Communications

Volume: 14, P: 1-18
Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

Patrice Verpillat
Agnès Camuzat
Françoise Clerget-Darpoux
Research03 Jul 2002
European Journal of Human Genetics

Volume: 10, P: 399-405
Temporal order of clinical and biomarker changes in familial frontotemporal dementia

Empirically based models of disease progression in familial frontotemporal dementia reveal the relative ordering of clinical, neuroimaging, and fluid biomarker changes and facilitate novel clinical trial designs

Adam M. Staffaroni
Melanie Quintana
Sónia Afonso
Research22 Sept 2022
Nature Medicine

Volume: 28, P: 2194-2206