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2. M. Arzel-Hezode, D. Sternberg, N. Tabti, S. Vicart, C. Goizet, B. Eymard, B. Fontaine, and E. Fournier. Homozygosity for dominant mutations increases severity of muscle channelopathies. Muscle Nerve, 2009. Note: Journal article. [WWW]



3. A. Boukhris, G. Stevanin, I. Feki, P. Denora, N. Elleuch, M. I. Miladi, C. Goizet, J. Truchetto, S. Belal, A. Brice, and C. Mhiri. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. Clin Genet, 75(6):527-36, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tDenmark. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Brain/pathology, Child, Consanguinity, Female, Genes, Recessive, *Genetic Heterogeneity, Humans, Male, Middle Aged, Mutation, *Phenotype, Spastic Paraplegia, Hereditary/*epidemiology/*genetics/pathology, Sural Nerve/pathology, Tunisia/epidemiology.



4. 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.



5. C. Goizet, A. Boukhris, D. Maltete, L. Guyant-Marechal, J. Truchetto, E. Mundwiller, S. Hanein, P. Jonveaux, F. Roelens, J. Loureiro, E. Godet, S. Forlani, J. Melki, M. Auer-Grumbach, J. C. Fernandez, P. Martin-Hardy, I. Sibon, G. Sole, I. Orignac, C. Mhiri, P. Coutinho, A. Durr, A. Brice, and G. Stevanin. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology, 73(14):1111-9, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



6. C. Goizet, A. Boukhris, E. Mundwiller, C. Tallaksen, S. Forlani, A. Toutain, N. Carriere, V. Paquis, C. Depienne, A. Durr, G. Stevanin, and A. Brice. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat, 30(2):E376-85, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Female, Gene Frequency, Humans, Kinesin/*genetics, Male, Middle Aged, Molecular Sequence Data, Mutation/genetics, Pedigree, Spastic Paraplegia, Hereditary/*genetics.



7. P. Labauge, L. Horzinski, X. Ayrignac, P. Blanc, S. Vukusic, D. Rodriguez, F. Mauguiere, L. Peter, C. Goizet, F. Bouhour, C. Denier, C. Confavreux, M. Obadia, F. Blanc, J. de Seze, A. Fogli, and O. Boespflug-Tanguy. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain, 132(Pt 8):2161-9, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]



8. C. Goizet, A. Boukhris, E. Mundwiller, C. Tallaksen, S. Forlani, A. Toutain, N. Carriere, V. Paquis, C. Depienne, A. Durr, G. Stevanin, and A. Brice. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat, 2008. Note: Journal article. [WWW]



9. S. Hanein, E. Martin, A. Boukhris, P. Byrne, C. Goizet, A. Hamri, A. Benomar, A. Lossos, P. Denora, J. Fernandez, N. Elleuch, S. Forlani, A. Durr, I. Feki, M. Hutchinson, F. M. Santorelli, C. Mhiri, A. Brice, and G. Stevanin. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet, 82(4):992-1002, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



10. G. Stevanin, H. Azzedine, P. Denora, A. Boukhris, M. Tazir, A. Lossos, A. L. Rosa, I. Lerer, A. Hamri, P. Alegria, J. Loureiro, M. Tada, D. Hannequin, M. Anheim, C. Goizet, V. Gonzalez-Martinez, I. Le Ber, S. Forlani, K. Iwabuchi, V. Meiner, G. Uyanik, A. K. Erichsen, I. Feki, F. Pasquier, S. Belarbi, V. T. Cruz, C. Depienne, J. Truchetto, G. Garrigues, C. Tallaksen, C. Tranchant, M. Nishizawa, J. Vale, P. Coutinho, F. M. Santorelli, C. Mhiri, A. Brice, and A. Durr. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain, 131(Pt 3):772-84, 2008. Note: SPATAX consortiumJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]



11. 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.



12. C. Depienne, E. Fedirko, J. M. Faucheux, S. Forlani, B. Bricka, C. Goizet, S. Lesourd, G. Stevanin, M. Ruberg, A. Durr, and A. Brice. A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics, 8(3):231-233, 2007. Note: Journal article. [WWW]



13. 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.



14. I. Le Ber, N. Bouslam, S. Rivaud-Pechoux, J. Guimaraes, A. Benomar, C. Chamayou, C. Goizet, M. C. Moreira, S. Klur, M. Yahyaoui, Y. Agid, M. Koenig, G. Stevanin, A. Brice, and A. Durr. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain, 127(Pt 4):759-67, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Apraxias/*genetics/physiopathology, Biological Markers/blood, Child, Child, Preschool, Disease Progression, Gait Ataxia/*genetics/physiopathology, Haplotypes, Humans, Linkage (Genetics), Lod Score, Middle Aged, Neuropsychological Tests, Ocular Motility Disorders/*genetics/physiopathology, Pedigree, Phenotype, alpha-Fetoproteins/analysis.

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