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Brain : a Journal of Neurology|February 5, 2008
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic studyIsabelle Le Ber, Agnès Camuzat, Didier Hannequin, et al.Brain : a Journal of Neurology|September 26, 2013
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcificationGaël Nicolas, Cyril Pottier, Camille Charbonnier, et al.Neurology|April 3, 2016
ABCA7 rare variants and Alzheimer disease riskKilan Le Guennec, Gaël Nicolas, Olivier Quenez, et al.European Journal of Human Genetics : EJHG|June 28, 2020
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluationOlivier Quenez, Kevin Cassinari, Sophie Coutant, et al.Acta Neuropathologica Communications|February 13, 2022
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamicsGaël Nicolas, Myriam Sévigny, François Lecoquierre, et al.Plos Medicine|March 29, 2017
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic casesHélène-Marie Lanoiselée, Gaël Nicolas, David Wallon, et al.Journal of Alzheimer'S Disease : JAD|August 6, 2019
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 YearsMorgane Lacour, Olivier Quenez, Anne Rovelet-Lecrux, et al.Alzheimer'S Research & Therapy|May 11, 2023
Phenotype and imaging features associated with APP duplicationsLou Grangeon, Camille Charbonnier, Aline Zarea, et al.Molecular Psychiatry|July 11, 2020
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brainIvan Alić, Pollyanna A Goh, Aoife Murray, et al.European Journal of Human Genetics : EJHG|August 6, 2015
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessonsGaël Nicolas, David Wallon, Camille Charbonnier, et al.Pageof 6