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. 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.



3. F. Mochel, B. Yang, J. Barritault, J. N. Thompson, U. F. Engelke, N. H. McNeill, W. S. Benko, C. R. Kaneski, D. R. Adams, M. Tsokos, M. Abu-Asab, M. Huizing, F. Seguin, R. A. Wevers, J. Ding, F. W. Verheijen, and R. Schiffmann. Free sialic acid storage disease without sialuria. Ann Neurol, 65(6):753-7, 2009. Note: Case ReportsComparative StudyJournal ArticleResearch Support, N.I.H., IntramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Child, Diagnosis, Differential, Hereditary Central Nervous System Demyelinating Diseases/cerebrospinal, fluid/diagnosis/genetics/urine, Humans, N-Acetylneuraminic Acid/*cerebrospinal fluid/genetics/urine, Nuclear Magnetic Resonance, Biomolecular/methods, Organic Anion Transporters/*genetics, Sialic Acid Storage Disease/cerebrospinal fluid/diagnosis/*genetics/urine, Symporters/*genetics, Young Adult.



4. M. Traore, G. Landoure, W. Motley, M. Sangare, K. Meilleur, S. Coulibaly, S. Traore, B. Niare, F. Mochel, A. La Pean, A. Vortmeyer, H. Mani, and K. H. Fischbeck. Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics, 10(4):319-23, 2009. Note: Journal ArticleResearch Support, N.I.H., IntramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW]



5. F. Mochel, C. Missirian, R. Reynaud, and A. Moncla. Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. Eur J Med Genet, 51(1):68-73, 2008. Note: Case ReportsJournal ArticleNetherlands. [WWW] Keyword(s): Abnormalities, Multiple/*genetics, Adolescent, Base Sequence, Carrier Proteins/*genetics, Chromosomes, Human, X/genetics, Humans, Ichthyosis/genetics, Intelligence/*genetics, *Interpersonal Relations, Kallmann Syndrome/genetics, Male, Membrane Proteins/*genetics, Mental Retardation/genetics, Nuclear Proteins/*genetics, *Sequence Deletion.



6. I. Le Ber, O. Dubourg, J. F. Benoist, C. Jardel, F. Mochel, M. Koenig, A. Brice, A. Lombes, and A. Durr. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology, 68(4):295-297, 2007. [WWW]



7. F. Mochel, J. Barritault, N. Boldiue, E. Eugene, F. Sedel, A. Durr, and F. Seguin. Apports de la spectometrie par réonnance magnétique nucléaire des fluides dans l'étude de maladies métaboliques et neurodénératives. Rev Neurol (Paris), 163(8):1-6, 2007.



8. F. Mochel, P. Charles, F. Seguin, J. Barritault, C. Coussieu, L. Perin, Y. Le Bouc, C. Gervais, G. Carcelain, A. Vassault, J. Feingold, D. Rabier, and A. Durr. Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression. PLoS ONE, 2(7):e647, 2007. Note: Journal ArticleUnited States. [WWW]

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