1. A. Rovelet-Lecrux, M. Lecourtois, C. Thomas-Anterion, I. Le Ber, A. Brice, T. Frebourg, D. Hannequin, and D. Campion. Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Hum Mutat, 30(4):E591-602, 2009. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Alternative Splicing, Blotting, Western, Cell Line, Tumor, DNA Mutational Analysis, Fatal Outcome, *Gene Deletion, Humans, Immunoprecipitation, Male, Microscopy, Confocal, Microtubule-Associated Proteins/immunology/metabolism, Microtubules/metabolism, Protein Binding, Protein Isoforms/genetics/metabolism, Tauopathies/*genetics/metabolism/pathology, Transfection, tau Proteins/*genetics/metabolism.



2. I. Le Ber, A. Camuzat, D. Hannequin, F. Pasquier, E. Guedj, A. Rovelet-Lecrux, V. Hahn-Barma, J. van der Zee, F. Clot, S. Bakchine, M. Puel, M. Ghanim, L. Lacomblez, J. Mikol, V. Deramecourt, P. Lejeune, V. de la Sayette, S. Belliard, M. Vercelletto, C. Meyrignac, C. Van Broeckhoven, J. C. Lambert, P. Verpillat, D. Campion, M. O. Habert, B. Dubois, and A. Brice. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain, 131(Pt 3):732-46, 2008. Note: French research network on FTD/FTD-MNDJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, Aphasia, Primary Progressive/genetics, Brain/pathology/physiopathology, Brain Mapping/methods, Cognition Disorders/etiology, Dementia/*genetics/pathology/psychology, Disease Progression, Epidemiologic Methods, Female, Heterozygote, Humans, Intercellular Signaling Peptides and Proteins/*genetics, Magnetic Resonance Imaging, Male, Middle Aged, Motor Neuron Disease/genetics, *Mutation, Neuropsychological Tests, Phenotype.



3. A. Rovelet-Lecrux, V. Deramecourt, S. Legallic, C. A. Maurage, I. Le Ber, A. Brice, J. C. Lambert, T. Frebourg, D. Hannequin, F. Pasquier, and D. Campion. Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiol Dis, 31(1):41-5, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



4. L. Guyant-Marechal, A. Rovelet-Lecrux, L. Goumidi, E. Cousin, D. Hannequin, G. Raux, C. Penet, S. Ricard, S. Mace, P. Amouyel, J. F. Deleuze, T. Frebourg, A. Brice, J. C. Lambert, and D. Campion. Variations in the APP gene promoter region and risk of Alzheimer disease. Neurology, 68(9):684-7, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Aged, Alzheimer Disease/*epidemiology/*genetics, Amyloid beta-Protein Precursor/*genetics, DNA Mutational Analysis/methods, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Genetic Screening/*methods, Heterozygote, Humans, Incidence, Male, Middle Aged, Polymorphism, Single Nucleotide/*genetics, Promoter Regions (Genetics), Receptors, Cell Surface/*genetics, Risk Assessment/*methods, Risk Factors, Tumor Markers, Biological/genetics, Variation (Genetics)/*genetics.



5. A. Rovelet-Lecrux, D. Hannequin, G. Raux, N. Le Meur, A. Laquerriere, A. Vital, C. Dumanchin, S. Feuillette, A. Brice, M. Vercelletto, F. Dubas, T. Frebourg, and D. Campion. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet, 38(1):24-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Age of Onset, Alzheimer Disease/epidemiology/*genetics/pathology, Amyloid beta-Protein/analysis/*genetics, Brain/*pathology, Case-Control Studies, Cerebral Amyloid Angiopathy/epidemiology/*genetics/pathology, Female, *Gene Duplication, Genes, Dominant, Humans, Male, Microsatellite Repeats, Polymerase Chain Reaction/methods.

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