1. D. Galanaud, A. Tourbah, S. Lehericy, N. Leveque, B. Heron, T. Billette de Villemeur, N. Guffon, F. Feillet, N. Baumann, M. T. Vanier, and F. Sedel. 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. Mol Genet Metab, 96(2):55-8, 2009. Note: Journal ArticleUnited States. [WWW] Keyword(s): 1-Deoxynojirimycin/*analogs & derivatives/therapeutic use, Adult, Brain/*metabolism/pathology, Choline/metabolism, Cohort Studies, Creatine/metabolism, Female, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy/*methods, Male, Niemann-Pick Disease, Type C/*drug therapy, Treatment Outcome.



2. I. Kraoua, J. Stirnemann, M. J. Ribeiro, T. Rouaud, M. Verin, A. Annic, C. Rose, L. Defebvre, L. Remenieras, M. Schupbach, N. Belmatoug, M. Vidailhet, and F. Sedel. Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature. Mov Disord, 24(10):1524-1530, 2009. Note: Journal articleofficial journal of the Movement Disorder Society. [WWW]



3. 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.



4. F. Sedel, G. Challe, J. M. Mayer, A. Boutron, B. Fontaine, J. M. Saudubray, and M. Brivet. Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy. J Neurol Neurosurg Psychiatry, 79(7):846-7, 2008. Note: Case ReportsLetterEngland. [WWW] Keyword(s): Adult, Age Factors, Humans, Male, Optic Nerve Diseases/*etiology, Peripheral Nervous System Diseases/*etiology, Pyruvate Dehydrogenase Complex Deficiency Disease/complications/*drug, therapy, Thiamine/*therapeutic use, Vitamin B Complex/*therapeutic use.



5. F. Sedel, J. M. Saudubray, E. Roze, Y. Agid, and M. Vidailhet. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis, 31(3):308-18, 2008. Note: Journal ArticleReviewNetherlands. [WWW] Keyword(s): Adolescent, Adult, Amino Acids/metabolism, Copper/metabolism, Energy Metabolism, Gangliosidosis, GM1/diagnosis, Humans, Iron/metabolism, Metabolism, Inborn Errors/*diagnosis, Movement Disorders/*diagnosis, Neurotransmitter Agents/biosynthesis.



6. F. Sedel, A. Tourbah, B. Fontaine, C. Lubetzki, N. Baumann, J. M. Saudubray, and O. Lyon-Caen. Leukoencephalopathies associated with inborn errors of metabolism in adults. J Inherit Metab Dis, 31(3):295-307, 2008. Note: Journal ArticleNetherlands. [WWW]



7. F. C. Aubart, F. Sedel, S. Vicart, O. Lyon-Caen, and B. Fontaine. Nitric-oxide triggered neurological disorders in subjects with vitamin B12 deficiency. Revue Neurologique, 163(3):362-364, 2007. [WWW]



8. 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.



9. P. Cherin, F. Sedel, C. Mignot, M. Schupbach, I. Gourfinkel-An, M. Verny, and N. Baumann. [Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?]. Rev Neurol (Paris), 162(11):1076-83, 2006. Note: English AbstractJournal ArticleFrance. [WWW] Keyword(s): Adult, Age of Onset, Aged, Female, Gaucher Disease/*classification/*physiopathology, Glucosylceramidase/metabolism, Humans, Male, Middle Aged, Nervous System/*physiopathology, Parkinsonian Disorders/classification/complications, Phenotype, Reflex, Abnormal, Tremor/complications.



10. F. Sedel, K. Friderici, K. Nummy, C. Caillaud, A. Chabli, A. Durr, C. Lubetzki, and Y. Agid. Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency. Arch Neurol, 63(1):129-31, 2006. Note: Case ReportsJournal ArticleUnited States. [WWW] Keyword(s): Adolescent, Humans, Male, Mutation/genetics, Tourette Syndrome/enzymology/genetics/*urine, beta-Mannosidase/*deficiency/urine.



11. F. Sedel, M. J. Ribeiro, P. Remy, N. Blau, J. M. Saudubray, and Y. Agid. Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. Neurology, 67(12):2243-5, 2006. Note: Case ReportsJournal ArticleUnited States. [WWW] Keyword(s): 5-Hydroxytryptophan/*therapeutic use, Adult, Antidepressive Agents, Second-Generation/therapeutic use, Dopamine Agents/therapeutic use, Drug Combinations, Dyskinesia, Drug-Induced/*etiology, Dyskinesias, Humans, Levodopa/*therapeutic use, Longitudinal Studies, Male, Phenylketonurias/*diagnosis/*drug therapy, Treatment Outcome.



12. F. Sedel, A. Tourbah, N. Baumann, B. Fontaine, P. Aubourg, C. Lubetzki, and O. Lyon-Caen. [Adult onset hereditary leukoencephalopathies]. Rev Neurol (Paris), 161(10):916-31, 2005. Note: English AbstractJournal ArticleReviewFrance. [WWW] Keyword(s): Age of Onset, Brain Diseases/diagnosis/*genetics/*metabolism, Demyelinating Diseases/diagnosis/*genetics/*metabolism, Humans, Mutation.

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