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Brain : a Journal of Neurology|March 15, 2014
Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's diseaseMitsuru Shinohara, Shinsuke Fujioka, Melissa E Murray, et al.Neurology. Genetics|September 17, 2021
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus TriplicationLou Grangeon, Kévin Cassinari, Stéphane Rousseau, et al.Neurogenetics|January 29, 2014
Partial deletions of the GRN gene are a cause of frontotemporal lobar degenerationFabienne Clot, Anne Rovelet-Lecrux, Foudil Lamari, et al.Brain : a Journal of Neurology|January 23, 2009
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family membersNiCole Finch, Matt Baker, Richard Crook, et al.Journal of Alzheimer'S Disease : JAD|March 26, 2019
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's DiseaseEmmanuelle Boscher, Thomas Husson, Olivier Quenez, et al.European Journal of Human Genetics : EJHG|June 2, 2016
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencingStéphanie David, Joana Ferreira, Olivier Quenez, et al.Human Mutation|April 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndromeJuliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, et al.European Journal of Human Genetics : EJHG|December 15, 2011
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer diseaseAnne Rovelet-Lecrux, Solenn Legallic, David Wallon, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 8, 2020
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory ElementKévin Cassinari, Anne Rovelet-Lecrux, Sandrine Tury, et al.Neuropathology and Applied Neurobiology|March 17, 2021
Atypical astroglial pTDP-43 pathology in astroglial predominant tauopathyEllen Gelpi, Iban Aldecoa, Dolores Lopez-Villegas, et al.Pageof 6