1. L. Benajiba, I. Le Ber, A. Camuzat, M. Lacoste, C. Thomas-Anterion, P. Couratier, S. Legallic, F. Salachas, D. Hannequin, M. Decousus, L. Lacomblez, E. Guedj, V. Golfier, W. Camu, B. Dubois, D. Campion, V. Meininger, and A. Brice. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol, 65(4):470-3, 2009. Note: French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron DiseaseJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



2. J. C. Lambert, S. Heath, G. Even, D. Campion, K. Sleegers, M. Hiltunen, O. Combarros, D. Zelenika, M. J. Bullido, B. Tavernier, L. Letenneur, K. Bettens, C. Berr, F. Pasquier, N. Fievet, P. Barberger-Gateau, S. Engelborghs, P. De Deyn, I. Mateo, A. Franck, S. Helisalmi, E. Porcellini, O. Hanon, M. M. de Pancorbo, C. Lendon, C. Dufouil, C. Jaillard, T. Leveillard, V. Alvarez, P. Bosco, M. Mancuso, F. Panza, B. Nacmias, P. Bossu, P. Piccardi, G. Annoni, D. Seripa, D. Galimberti, D. Hannequin, F. Licastro, H. Soininen, K. Ritchie, H. Blanche, J. F. Dartigues, C. Tzourio, I. Gut, C. Van Broeckhoven, A. Alperovitch, M. Lathrop, and P. Amouyel. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet, 41(10):1094-9, 2009. Note: European Alzheimer's Disease Initiative InvestigatorsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Alzheimer Disease/*genetics, Clusterin/*genetics, European Continental Ancestry Group/genetics, *Genetic Predisposition to Disease, *Genome-Wide Association Study, Haplotypes, Humans, Polymorphism, Single Nucleotide, Receptors, Complement 3b/*genetics.



3. I. Le Ber, A. Camuzat, E. Berger, D. Hannequin, A. Laquerriere, V. Golfier, D. Seilhean, G. Viennet, P. Couratier, P. Verpillat, S. Heath, W. Camu, O. Martinaud, L. Lacomblez, M. Vercelletto, F. Salachas, F. Sellal, M. Didic, C. Thomas-Anterion, M. Puel, B. F. Michel, C. Besse, C. Duyckaerts, V. Meininger, D. Campion, B. Dubois, and A. Brice. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology, 72(19):1669-76, 2009. Note: French Research Network on FTD/FTD-MNDJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



4. 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.



5. J. Chapuis, D. Hannequin, F. Pasquier, P. Bentham, A. Brice, I. Leber, T. Frebourg, J. F. Deleuze, E. Cousin, U. Thaker, P. Amouyel, D. Mann, C. Lendon, D. Campion, and J. C. Lambert. Association study of the GAB2 gene with the risk of developing Alzheimer's disease. Neurobiol Dis, 30(1):103-6, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adaptor Proteins, Signal Transducing/*genetics, Aged, Aged, 80 and over, Alzheimer Disease/*genetics/pathology, Apolipoprotein E4/genetics, Brain/pathology, Case-Control Studies, Chi-Square Distribution, Cross-Cultural Comparison, Female, Gene Frequency, *Genetic Predisposition to Disease, Genotype, Humans, Male, Polymorphism, Genetic/*genetics, Risk.



6. 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.



7. 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]



8. 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.



9. I. Le Ber, A. Camuzat, J. van der Zee, D. Hannequin, F. Pasquier, I. Gijselinck, D. Campion, M. Puel, A. Laquerriere, T. De Pooter, M. Van den Broeck, B. Dubois, F. Sellal, L. Lacomblez, M. Vercelletto, C. Thomas-Anterion, B. F. Michel, V. Golfier, M. Didic, F. Salachas, C. Duyckaerts, J. C. Lambert, M. Cruts, P. Verpillat, C. Van Broeckhoven, and A. Brice. PGRN gene mutations in both sporadic and familial frontotemporal dementia. Neurology, 68(12):A351-A351, 2007. Note: Suppl. 1. [WWW]



10. I. Le Ber, J. van der Zee, D. Hannequin, I. Gijselinck, D. Campion, M. Puel, A. Laquerriere, T. De Pooter, A. Camuzat, M. Van den Broeck, B. Dubois, F. Sellal, L. Lacomblez, M. Vercelletto, C. Thomas-Anterion, B. F. Michel, V. Golfier, M. Didic, F. Salachas, C. Duyckaerts, M. Cruts, P. Verpillat, C. Van Broeckhoven, and A. Brice. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat, 28(9):846-55, 2007. Note: French Research Network on FTD/FTD-MNDJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



11. J. van der Zee, I. Le Ber, S. Maurer-Stroh, S. Engelborghs, I. Gijselinck, A. Camuzat, N. Brouwers, R. Vandenberghe, K. Sleegers, D. Hannequin, B. Dermaut, J. Schymkowitz, D. Campion, P. Santens, J. J. Martin, L. Lacomblez, T. De Pooter, K. Peeters, M. Mattheijssens, M. Vercelletto, M. Van den Broeck, M. Cruts, P. P. De Deyn, F. Rousseau, A. Brice, and C. Van Broeckhoven. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat, 28(4):416, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Case-Control Studies, Conserved Sequence, DNA Mutational Analysis, Dementia/*genetics/metabolism/pathology, Female, Humans, Intercellular Signaling Peptides and, Proteins/biosynthesis/deficiency/*genetics/metabolism, Male, Microsatellite Repeats, Middle Aged, Molecular Sequence Data, *Mutation, Missense, Protein Conformation, Protein Folding, Protein Structure, Tertiary.



12. C. Dumanchin, I. Tournier, C. Martin, M. Didic, S. Belliard, B. Carlander, F. Rouhart, C. Duyckaerts, J. F. Pellissier, J. B. Latouche, D. Hannequin, T. Frebourg, M. Tosi, and D. Campion. Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Hum Mutat, 27(10):1063, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Alzheimer Disease/*genetics/metabolism/pathology, Amyloid beta-Protein/genetics/metabolism/secretion, Blotting, Western, Cell Line, DNA Mutational Analysis, Humans, Membrane Proteins/*genetics/metabolism, Mutation/*genetics, Paraparesis, Spastic/*pathology, Presenilin-1, RNA Splicing/genetics, Reverse Transcriptase Polymerase Chain Reaction, Senile Plaques/*pathology.



13. L. Guyant-Marechal, A. Laquerriere, C. Duyckaerts, C. Dumanchin, J. Bou, F. Dugny, I. Le Ber, T. Frebourg, D. Hannequin, and D. Campion. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology, 67(4):644-51, 2006. Note: Journal ArticleUnited States. [WWW] Keyword(s): Cell Cycle Proteins/*genetics, Chromosome Disorders/epidemiology/*genetics, DNA Mutational Analysis, Dementia/epidemiology/*genetics, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Heterozygote, Humans, Incidence, Male, Middle Aged, Multiple Organ Failure/epidemiology/*genetics, Mutation, Myositis, Inclusion Body/epidemiology/*genetics, Osteitis Deformans/epidemiology/*genetics, Pedigree, Prevalence, Retrospective Studies, Risk Assessment/*methods, Risk Factors, Syndrome.



14. 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.



15. S. Mace, E. Cousin, S. Ricard, E. Genin, E. Spanakis, C. Lafargue-Soubigou, B. Genin, R. Fournel, S. Roche, G. Haussy, F. Massey, S. Soubigou, G. Brefort, P. Benoit, A. Brice, D. Campion, M. Hollis, L. Pradier, J. Benavides, and J. F. Deleuze. ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. Neurobiol Dis, 18(1):119-25, 2005. Note: Journal ArticleUnited States. [WWW] Keyword(s): ATP-Binding Cassette Transporters/*genetics/metabolism, Age of Onset, Aged, Alzheimer Disease/epidemiology/*genetics/metabolism, Apolipoprotein E4, Apolipoproteins E/genetics, Brain/metabolism/physiopathology, Case-Control Studies, Cholesterol/*metabolism, DNA Mutational Analysis, European Continental Ancestry Group/genetics, Female, France/epidemiology, Gene Frequency, Genetic Markers/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Male, Middle Aged, Mutation/*genetics, Odds Ratio, Polymorphism, Single Nucleotide/*genetics, Risk Factors, Sex Factors, Variation (Genetics)/genetics.



16. O. Martinaud, A. Laquerriere, L. Guyant-Marechal, P. Ahtoy, P. Vera, N. Sergeant, A. Camuzat, P. Bourgeois, J. J. Hauw, D. Campion, and D. Hannequin. Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family. Acta Neuropathol (Berl), 110(1):84-92, 2005. Note: Case ReportsJournal ArticleGermany. [WWW] Keyword(s): Blotting, Western, Brain/metabolism/*pathology, Dementia/complications/genetics/*pathology, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Motor Neuron Disease/complications/genetics/*pathology, Nerve Tissue Proteins/genetics, Pedigree, Spinal Cord/metabolism/*pathology, Superoxide Dismutase/genetics, Tauopathies/genetics/metabolism/*pathology, tau Proteins/metabolism.



17. G. Raux, L. Guyant-Marechal, C. Martin, J. Bou, C. Penet, A. Brice, D. Hannequin, T. Frebourg, and D. Campion. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet, 42(10):793-5, 2005. Note: LetterEngland. [WWW] Keyword(s): Adult, *Age of Onset, Aged, Alzheimer Disease/*diagnosis/*genetics, Amyloid/chemistry, Exons, Family Health, Genes, Dominant, Humans, Membrane Proteins/genetics, Middle Aged, *Molecular Diagnostic Techniques, Mutation, Presenilin-1, Presenilin-2.



18. I. Le Ber, M. Martinez, D. Campion, A. Laquerriere, C. Betard, G. Bassez, C. Girard, P. Saugier-Veber, G. Raux, N. Sergeant, P. Magnier, T. Maisonobe, B. Eymard, C. Duyckaerts, A. Delacourte, T. Frebourg, and D. Hannequin. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Brain, 127(Pt 9):1979-92, 2004. Note: Journal ArticleEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Chromosome Mapping/methods, Chromosomes, Human, Pair 15/*genetics, Dementia/complications/*genetics/pathology, Female, Humans, Linkage (Genetics)/genetics, Magnetic Resonance Imaging, Male, Middle Aged, Muscle Weakness/etiology/genetics/pathology, Muscle, Skeletal/pathology, Myosin Heavy Chains/analysis, Myotonic Disorders/complications/*genetics/pathology, Pedigree, Phenotype, RNA-Binding Proteins/genetics, Sex Ratio, tau Proteins/analysis.



19. E. Cousin, D. Hannequin, S. Mace, B. Dubois, S. Ricard, E. Genin, C. Brun, C. Chansac, L. Pradier, T. Frebourg, A. Brice, D. Campion, and J. F. Deleuze. No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease. Neurosci Lett, 353(2):153-5, 2003. Note: Comparative StudyJournal ArticleIreland. [WWW] Keyword(s): Age of Onset, Aged, Alzheimer Disease/*genetics, Amyloid Precursor Protein Secretases, Apolipoprotein E4, Apolipoproteins E/genetics, France, Gene Frequency, Genotype, Haplotypes, Humans, Membrane Glycoproteins/*genetics, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide.



20. E. Cousin, D. Hannequin, S. Ricard, S. Mace, E. Genin, C. Chansac, A. Brice, B. Dubois, T. Frebourg, L. Mercken, J. Benavides, L. Pradier, D. Campion, and J. F. Deleuze. A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism. Neurosci Lett, 342(1-2):5-8, 2003. Note: Journal ArticleIreland. [WWW] Keyword(s): Age Factors, Age of Onset, Aged, Aged, 80 and over, Alleles, Alzheimer Disease/epidemiology/*genetics, Case-Control Studies, Female, Genotype, Humans, *Introns, Male, Middle Aged, Nerve Tissue Proteins/*genetics, Nuclear Proteins/*genetics, *Polymorphism, Genetic, Risk Factors, Sex Factors.

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