1. J. M. Burgunder, J. Finsterer, Z. Szolnoki, B. Fontaine, J. Baets, C. Van Broeckhoven, S. Di Donato, P. De Jonghe, T. Lynch, C. Mariotti, L. Schols, A. Spinazzola, S. J. Tabrizi, C. Tallaksen, M. Zeviani, H. F. Harbo, and T. Gasser. EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. Eur J Neurol, 2010. Note: Journal articlethe official journal of the European Federation of Neurological Societies. [WWW]



2. M. Anheim, B. Monga, M. Fleury, P. Charles, C. Barbot, M. Salih, J. P. Delaunoy, M. Fritsch, L. Arning, M. Synofzik, L. Schols, J. Sequeiros, C. Goizet, C. Marelli, I. Le Ber, J. Koht, J. Gazulla, J. De Bleecker, M. Mukhtar, N. Drouot, L. Ali-Pacha, T. Benhassine, M. Chbicheb, A. M'Zahem, A. Hamri, B. Chabrol, J. Pouget, R. Murphy, M. Watanabe, P. Coutinho, M. Tazir, A. Durr, A. Brice, C. Tranchant, and M. Koenig. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 132(Pt 10):2688-98, 2009. Note: Journal articlea journal of neurology. [WWW]



3. J. Finsterer, H. F. Harbo, J. Baets, C. Van Broeckhoven, S. Di Donato, B. Fontaine, P. De Jonghe, A. Lossos, T. Lynch, C. Mariotti, L. Schols, A. Spinazzola, Z. Szolnoki, S. J. Tabrizi, C. M. Tallaksen, M. Zeviani, J. M. Burgunder, and T. Gasser. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol, 16(12):1255-64, 2009. Note: Journal ArticleEnglandthe official journal of the European Federation of Neurological Societies. [WWW]



4. T. Gasser, J. Finsterer, J. Baets, C. Van Broeckhoven, S. Di Donato, B. Fontaine, P. De Jonghe, A. Lossos, T. Lynch, C. Mariotti, L. Schols, A. Spinazzola, Z. Szolnoki, S. J. Tabrizi, C. M. Tallaksen, M. Zeviani, J. M. Burgunder, and H. F. Harbo. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol, 2009. Note: Journal articlethe official journal of the European Federation of Neurological Societies. [WWW]



5. H. F. Harbo, J. Finsterer, J. Baets, C. Van Broeckhoven, S. Di Donato, B. Fontaine, P. De Jonghe, A. Lossos, T. Lynch, C. Mariotti, L. Schols, A. Spinazzola, Z. Szolnoki, S. J. Tabrizi, C. Tallaksen, M. Zeviani, J. M. Burgunder, and T. Gasser. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. Eur J Neurol, 16(7):777-785, 2009. Note: Journal articlethe official journal of the European Federation of Neurological Societies. [WWW]



6. R. Schule, M. Bonin, A. Durr, S. Forlani, A. D. Sperfeld, S. Klimpe, J. C. Mueller, A. Seibel, B. P. van de Warrenburg, P. Bauer, and L. Schols. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology, 72(22):1893-8, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Chromosome Mapping, Chromosomes, Human, Pair 12/*genetics, DNA Mutational Analysis, Female, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Germany, Humans, Inheritance Patterns/genetics, Linkage (Genetics)/*genetics, Male, Microsatellite Repeats/genetics, Middle Aged, Mutation/genetics, Open Reading Frames/genetics, Pedigree, Peripheral Nervous System Diseases/*genetics, Polymorphism, Single Nucleotide/genetics, Spastic Paraplegia, Hereditary/*genetics.



7. J. B. Schulz, S. Boesch, K. Burk, A. Durr, P. Giunti, C. Mariotti, F. Pousset, L. Schols, P. Vankan, and M. Pandolfo. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol, 5(4):222-34, 2009. Note: Journal ArticleReviewEngland. [WWW] Keyword(s): Antioxidants/therapeutic use, Diagnosis, Differential, Diagnostic Imaging, Europe/epidemiology, Friedreich Ataxia/*diagnosis/epidemiology/genetics/*therapy, Humans, Muscle, Skeletal/physiopathology, Neurophysiology/methods.



8. C. Globas, S. T. du Montcel, L. Baliko, S. Boesch, C. Depondt, S. DiDonato, A. Durr, A. Filla, T. Klockgether, C. Mariotti, B. Melegh, M. Rakowicz, P. Ribai, R. Rola, T. Schmitz-Hubsch, S. Szymanski, D. Timmann, B. P. Van de Warrenburg, P. Bauer, and L. Schols. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord, 23(15):2232-8, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Calcium Channels/genetics, DNA Mutational Analysis, Female, Gait Disorders, Neurologic/complications, Humans, Linear Models, Male, Middle Aged, Nerve Tissue Proteins/genetics, Nuclear Proteins/genetics, Repressor Proteins/genetics, *Spinocerebellar Ataxias/classification/complications/genetics, Trinucleotide Repeat Expansion/*genetics, Young Adult.



9. T. Schmitz-Hubsch, S. Tezenas du Montcel, L. Baliko, S. Boesch, S. Bonato, R. Fancellu, P. Giunti, C. Globas, J. S. Kang, B. Kremer, C. Mariotti, B. Melegh, M. Rakowicz, R. Rola, S. Romano, L. Schols, S. Szymanski, B. P. van de Warrenburg, E. Zdzienicka, A. Durr, and T. Klockgether. Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients. Mov Disord, 21(5):699-704, 2006. Note: Comparative StudyJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Analysis of Variance, *Disability Evaluation, Female, Humans, *International Cooperation, Male, Middle Aged, Psychometrics, Reproducibility of Results, Sensitivity and Specificity, *Severity of Illness Index, Spinocerebellar Ataxias/*diagnosis/physiopathology.



10. T. Schmitz-Hubsch, S. T. du Montcel, L. Baliko, J. Berciano, S. Boesch, C. Depondt, P. Giunti, C. Globas, J. Infante, J. S. Kang, B. Kremer, C. Mariotti, B. Melegh, M. Pandolfo, M. Rakowicz, P. Ribai, R. Rola, L. Schols, S. Szymanski, B. P. van de Warrenburg, A. Durr, T. Klockgether, and R. Fancellu. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology, 66(11):1717-20, 2006. Note: Journal ArticleRandomized Controlled TrialResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Female, *Health Status Indicators, Humans, Male, Middle Aged, Neurologic Examination/*methods, Outcome Assessment (Health Care)/*methods, Reproducibility of Results, Sensitivity and Specificity, *Severity of Illness Index, Spinocerebellar Ataxias/*classification/*diagnosis.



11. S. Klebe, A. Durr, A. Rentschler, V. Hahn-Barma, M. Abele, N. Bouslam, L. Schols, P. Jedynak, S. Forlani, E. Denis, C. Dussert, Y. Agid, P. Bauer, C. Globas, U. Wullner, A. Brice, O. Riess, and G. Stevanin. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol, 58(5):720-9, 2005. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Electromyography/methods, Exons, Family Health, Female, Humans, Magnetic Resonance Imaging/methods, Male, Middle Aged, Molecular Structure, *Mutation, Pedigree, Phenotype, *Polymorphism, Genetic, Protein Kinase C/*genetics, Spinocerebellar Ataxias/*genetics/pathology/physiopathology.



12. M. C. Moreira, S. Klur, M. Watanabe, A. H. Nemeth, I. Le Ber, J. C. Moniz, C. Tranchant, P. Aubourg, M. Tazir, L. Schols, M. Pandolfo, J. B. Schulz, J. Pouget, P. Calvas, M. Shizuka-Ikeda, M. Shoji, M. Tanaka, L. Izatt, C. E. Shaw, A. M'Zahem, E. Dunne, P. Bomont, T. Benhassine, N. Bouslam, G. Stevanin, A. Brice, J. Guimaraes, P. Mendonca, C. Barbot, P. Coutinho, J. Sequeiros, A. Durr, J. M. Warter, and M. Koenig. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet, 36(3):225-7, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Cerebellar Ataxia/*genetics, Chromosome Mapping, Chromosomes, Human, Pair 9, Fungal Proteins/*genetics, Humans, Mutation, Ocular Motility Disorders/*genetics, RNA Helicases/*genetics, Saccharomyces cerevisiae Proteins/genetics, alpha-Fetoproteins/metabolism.

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