1. 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.



2. P. Ribai, C. Depienne, E. Fedirko, A. C. Jothy, C. Viveweger, V. Hahn-Barma, A. Brice, and A. Durr. Mental deficiency in three families with SPG4 spastic paraplegia. Eur J Hum Genet, 16(1):97-104, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglandEjhg. [WWW] Keyword(s): Adenosine Triphosphatases/*genetics, Adult, Amino Acid Substitution, Female, Genes, Dominant, Haplotypes, Humans, Male, Mental Retardation/complications/*genetics, Middle Aged, *Mutation, Mutation, Missense, Pedigree, Phenotype, Point Mutation, Spastic Paraplegia,, Hereditary/complications/*genetics/physiopathology/psychology.



3. 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.



4. C. Depienne, E. Fedirko, S. Forlani, C. Cazeneuve, P. Ribai, I. Feki, C. Tallaksen, K. Nguyen, B. Stankoff, M. Ruberg, G. Stevanin, A. Durr, and A. Brice. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet, 44(4):281-4, 2007. Note: Comparative StudyLetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adenosine Triphosphatases/deficiency/*genetics, Adolescent, Adult, Age of Onset, Aged, Child, Child, Preschool, DNA Mutational Analysis, Exons/*genetics, Female, France/epidemiology, Genetic Heterogeneity, Genetic Screening, Humans, Infant, Male, Middle Aged, Point Mutation, Polymerase Chain Reaction/methods, Portugal/epidemiology, Spain/epidemiology, Spastic Paraplegia, Hereditary/epidemiology/*genetics.



5. S. Hanein, A. Durr, P. Ribai, S. Forlani, A. L. Leutenegger, I. Nelson, M. C. Babron, N. Elleuch, C. Depienne, C. Charon, A. Brice, and G. Stevanin. A novel locus for autosomal dominant ``uncomplicated'' hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet, 122(3-4):261-73, 2007. Note: Journal article. [WWW]



6. P. Ribai, C. Depienne, E. Fedirko, A. C. Jothy, C. Viveweger, V. Capra, E. Merello, A. Brice, and A. Durr. Mental retardation is associated to spastic paraplegia in 15 patients with SPG4 mutations. Eur J Hum Genet, pp sous-presse, 2007.



7. P. Ribai, K. Nguyen, V. Hahn-Barma, I. Gourfinkel-An, M. Vidailhet, A. Legout, C. Dode, A. Brice, and A. Durr. Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol, 64(6):813-9, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Atrophy, Brain/pathology, Child, Cognition Disorders/*etiology, Fathers, Female, Humans, Huntington Disease/*diagnosis/genetics/*psychology, Male, Mental Disorders/*etiology/psychology, Mothers, Movement Disorders/etiology, Retrospective Studies, Time Factors, Trinucleotide Repeats.



8. P. Ribai, F. Pousset, M. L. Tanguy, S. Rivaud-Pechoux, I. Le Ber, F. Gasparini, P. Charles, A. S. Beraud, M. Schmitt, M. Koenig, A. Mallet, A. Brice, and A. Durr. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol, 64(4):558-564, 2007. [WWW]



9. M. Namekawa, I. Nelson, P. Ribai, A. Durr, E. Denis, G. Stevanin, M. Ruberg, and A. Brice. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics, 7(2):131-2, 2006. Note: LetterResearch Support, Non-U.S. Gov'tUnited States. [WWW]



10. M. Namekawa, P. Ribai, I. Nelson, S. Forlani, F. Fellmann, C. Goizet, C. Depienne, G. Stevanin, M. Ruberg, A. Durr, and A. Brice. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology, 66(1):112-4, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Brain/pathology/physiopathology, DNA Mutational Analysis, Family Health, GTP Phosphohydrolases/*genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Humans, Male, Middle Aged, Mutation/*genetics, Peripheral Nerves/pathology/physiopathology, Phenotype, Spastic Paraplegia, Hereditary/diagnosis/*genetics/physiopathology, Wallerian Degeneration/diagnosis/genetics.



11. P. Ribai, G. Stevanin, N. Bouslam, B. Pontier, I. Nelson, B. Fontaine, C. Dussert, C. Charon, A. Durr, and A. Brice. A new phenotype linked to SPG27 and refinement of the critical region on chromosome. J Neurol, 253(6):714-9, 2006. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tGermany. [WWW] Keyword(s): Adult, Cerebral Cortex/*pathology, Chromosome Mapping/methods, *Chromosomes, Human, Pair 10, Family Health, Female, Humans, Lod Score, Magnetic Resonance Imaging, Male, Phenotype, Spastic Paraplegia, Hereditary/*genetics/*pathology.



12. 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.

This material is presented to ensure timely dissemination of scholarly and technical work. Copyright and all rights therein are retained by authors or by other copyright holders. All person copying this information are expected to adhere to the terms and constraints invoked by each author's copyright. In most cases, these works may not be reposted without the explicit permission of the copyright holder.

Les documents contenus dans ces répertoires sont rendus disponibles par les auteurs qui y ont contribué en vue d'assurer la diffusion à temps de travaux savants et techniques sur une base non-commerciale. Les droits de copie et autres droits sont gardés par les auteurs et par les détenteurs du copyright, en dépit du fait qu'ils présentent ici leurs travaux sous forme électronique. Les personnes copiant ces informations doivent adhérer aux termes et contraintes couverts par le copyright de chaque auteur. Ces travaux ne peuvent pas être rendus disponibles ailleurs sans la permission explicite du détenteur du copyright.

This document was translated from BibT_EX by bibtex2html