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Publications of T. Frebourg
Articles in journal or book chapters
  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. 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.


  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. 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.


  6. 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.


  7. 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.


  8. 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.


  9. 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.


  10. 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.


  11. 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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