1. C. Goizet, A. Boukhris, A. Durr, C. Beetz, J. Truchetto, C. Tesson, M. Tsaousidou, S. Forlani, L. Guyant-Marechal, B. Fontaine, J. Guimaraes, B. Isidor, O. Chazouilleres, D. Wendum, D. Grid, F. Chevy, P. F. Chinnery, P. Coutinho, J. P. Azulay, I. Feki, F. Mochel, C. Wolf, C. Mhiri, A. Crosby, A. Brice, and G. Stevanin. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain, 132(Pt 6):1589-600, 2009. Note: Journal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Aged, Animals, Base Sequence, Brain/pathology, Codon, Nonsense/*genetics, Female, Genes, Recessive, Genetic Variation, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense/*genetics, Pedigree, Point Mutation, Spastic Paraplegia, Hereditary/*genetics/pathology, Species Specificity, Steroid Hydroxylases/*genetics, Young Adult.



2. C. Goizet, A. Boukhris, D. Maltete, L. Guyant-Marechal, J. Truchetto, E. Mundwiller, S. Hanein, P. Jonveaux, F. Roelens, J. Loureiro, E. Godet, S. Forlani, J. Melki, M. Auer-Grumbach, J. C. Fernandez, P. Martin-Hardy, I. Sibon, G. Sole, I. Orignac, C. Mhiri, P. Coutinho, A. Durr, A. Brice, and G. Stevanin. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology, 73(14):1111-9, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



3. E. Roze, E. Apartis, F. Clot, N. Dorison, S. Thobois, L. Guyant-Marechal, C. Tranchant, P. Damier, D. Doummar, N. Bahi-Buisson, N. Andre-Obadia, D. Maltete, A. Echaniz-Laguna, Y. Pereon, Y. Beaugendre, S. Dupont, T. De Greslan, C. P. Jedynak, G. Ponsot, J. C. Dussaule, A. Brice, A. Durr, and M. Vidailhet. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology, 70(13):1010-6, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Brain/metabolism/physiopathology, Child, Child, Preschool, DNA Mutational Analysis, Disease Progression, Dystonia/*diagnosis/*genetics/physiopathology, Electroencephalography, Female, Genetic Markers/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Male, Middle Aged, Muscle, Skeletal/metabolism/physiopathology, Mutation/genetics, Myoclonus/*diagnosis/*genetics/physiopathology, Prospective Studies, Reflex, Abnormal/genetics, Remission, Spontaneous, Sarcoglycans/*genetics.



4. S. T. du Montcel, P. Charles, P. Ribai, C. Goizet, A. Le Bayon, P. Labauge, L. Guyant-Marechal, S. Forlani, C. Jauffret, N. Vandenberghe, K. N'Guyen, I. Le Ber, D. Devos, C. M. Vincitorio, M. U. Manto, F. Tison, D. Hannequin, M. Ruberg, A. Brice, and A. Durr. Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. Brain, 131(Pt 5):1352-61, 2008. Note: Journal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tValidation StudiesEnglanda journal of neurology. [WWW] Keyword(s): Adult, Aged, Cerebellar Ataxia/*physiopathology/psychology, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Paraplegia/*physiopathology/psychology, Psychometrics, Psychomotor Disorders/*etiology, Quality of Life, *Severity of Illness Index.



5. 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.



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. S. Tezenas du Montcel, F. Clot, M. Vidailhet, E. Roze, P. Damier, C. P. Jedynak, A. Camuzat, A. Lagueny, L. Vercueil, D. Doummar, L. Guyant-Marechal, J. L. Houeto, G. Ponsot, S. Thobois, M. A. Cournelle, A. Durr, F. Durif, B. Echenne, D. Hannequin, C. Tranchant, and A. Brice. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet, 43(5):394-400, 2006. Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adolescent, Adult, Aged, Child, Child, Preschool, Choreatic Disorders/diagnosis/genetics, Chromosomes, Human, Pair 7, Cohort Studies, DNA Mutational Analysis, Dystonic Disorders/*diagnosis/genetics, Female, France, Genetic Screening, Humans, Infant, Male, Middle Aged, Molecular Chaperones/genetics, *Mutation, Myoclonus/*diagnosis/genetics, Phenotype, Sarcoglycans/*genetics, Syndrome.



8. 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.



9. 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.

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