1. S. Leu-Semenescu, I. Arnulf, C. Decaix, F. Moussa, F. Clot, C. Boniol, Y. Touitou, R. Levy, M. Vidailhet, and E. Roze. Sleep and rhythm consequences of a genetically induced loss of serotonin. Sleep, 33(3):307-14, 2010. Note: Journal ArticleUnited States. [WWW]



2. F. Clot, D. Grabli, C. Cazeneuve, E. Roze, P. Castelnau, B. Chabrol, P. Landrieu, K. Nguyen, G. Ponsot, M. Abada, D. Doummar, P. Damier, R. Gil, S. Thobois, A. J. Ward, M. Hutchinson, A. Toutain, F. Picard, A. Camuzat, E. Fedirko, C. San, D. Bouteiller, E. LeGuern, A. Durr, M. Vidailhet, and A. Brice. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain, 132(Pt 7):1753-63, 2009. Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]



3. D. Doummar, F. Clot, M. Vidailhet, A. Afenjar, A. Durr, A. Brice, C. Mignot, A. Guet, T. B. de Villemeur, and D. Rodriguez. Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene. Mov Disord, 24(6):943-945, 2009. Note: Journal articleofficial journal of the Movement Disorder Society. [WWW]



4. M. Y. Frederic, F. Clot, A. Blanchard, C. M. Dhaenens, G. Lesca, L. Cif, A. Durr, M. Vidailhet, B. Sablonniere, A. Calender, M. Martinez, N. Molinari, A. Brice, M. Claustres, S. Tuffery-Giraud, and G. Collod-Beroud. The p.Asp216His TOR1A allele effect is not found in the French population. Mov Disord, 24(6):919-921, 2009. Note: Journal articleofficial journal of the Movement Disorder Society. [WWW]



5. K. Kinugawa, M. Vidailhet, F. Clot, E. Apartis, D. Grabli, and E. Roze. Myoclonus-dystonia: an update. Mov Disord, 24(4):479-89, 2009. Note: Journal ArticleReviewUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Diagnosis, Differential, Dystonia/*complications/diagnosis/genetics/therapy, Humans, Magnetic Resonance Imaging/methods, Movement Disorders/genetics/*physiopathology/therapy, Mutation/genetics, Myoclonus/*complications/diagnosis/genetics/therapy, Sarcoglycans/genetics.



6. F. Mochel, F. Sedel, A. Vanderver, U. F. Engelke, J. Barritault, B. Z. Yang, B. Kulkarni, D. R. Adams, F. Clot, J. H. Ding, C. R. Kaneski, F. W. Verheijen, B. W. Smits, F. Seguin, A. Brice, M. T. Vanier, M. Huizing, R. Schiffmann, A. Durr, and R. A. Wevers. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain, 132(Pt 3):801-9, 2009. Note: 5R24 HD050846/HD/NICHD NIH HHS/United StatesP30HD40677/HD/NICHD NIH HHS/United StatesJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, N.I.H., IntramuralResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Atrophy/cerebrospinal fluid, Cells, Cultured, Cerebellar Ataxia/*cerebrospinal fluid/pathology, Cerebellum/pathology, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Magnetic Resonance Imaging/methods, Magnetic Resonance Spectroscopy/methods, Male, Middle Aged, N-Acetylneuraminic Acid/*cerebrospinal fluid, Transferrin/cerebrospinal fluid.



7. M. Y. Frederic, F. Clot, L. Cif, A. Blanchard, A. Durr, I. Vuillaume, G. Lesca, A. Kreisler, C. Davin, T. Besnard, F. Rousset, D. Thorel, C. Saquet, D. Mechin, L. Ozelius, Y. Agid, B. Barroso, B. Chabrol, V. Chan, M. Clanet, C. Coubes, A. Destee, K. Nguyen, C. Vial, M. Vidailhet, J. Xie, B. Sablonniere, A. Calender, A. Brice, A. Roubertie, P. Coubes, M. Claustres, S. Tuffery-Giraud, and G. Collod-Beroud. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?. Neurogenetics, 9(2):143-50, 2008. Note: Journal ArticleUnited States. [WWW]



8. 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.



9. 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.



10. P. Zanotti-Fregonara, M. Vidailhet, A. Kas, L. J. Ozelius, F. Clot, E. Hindie, L. Ravasi, J. Y. Devaux, and E. Roze. [(123)I]-FP-CIT and [(99m)Tc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. J Neurol Sci, 273(1-2):148-51, 2008. Note: Journal ArticleNetherlands. [WWW]



11. E. Apartis, E. Roze, F. Clot, I. Guyon-Marechal, S. Thobois, C. Tranchant, P. Damier, Y. Beaugendre, A. Durr, and M. Vidailhet. Clinical and electrophysiological phenotype of myoclonus dystonia due to epsilon sarcoglycan gene mutations. Mov Disord, 22:S5-S5, 2007. Note: Suppl. 16. [WWW]



12. I. Le Ber, F. Clot, L. Vercueil, A. Camuzat, M. Viemont, N. Benamar, P. De Liege, A. M. Ouvrard-Hernandez, P. Pollak, G. Stevanin, A. Brice, and A. Durr. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology, 67(10):1769-73, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



13. 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.

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