1. N. Bouslam, A. Bouhouche, A. Benomar, S. Hanein, S. Klebe, H. Azzedine, S. Di Giandomenico, A. Boland-Auge, F. M. Santorelli, A. Durr, A. Brice, M. Yahyaoui, and G. Stevanin. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet, 121(3-4):413-20, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tGermany. [WWW] Keyword(s): Adult, Age of Onset, Cerebellar Ataxia/*genetics, Chromosome Mapping, *Chromosomes, Human, Pair 17, Consanguinity, Female, *Genes, Recessive, Haplotypes, Humans, Male, Microsatellite Repeats, Pedigree, Spastic Paraplegia, Hereditary/*genetics.



2. N. Elleuch, N. Bouslam, S. Hanein, A. Lossos, A. Hamri, S. Klebe, V. Meiner, N. Birouk, I. Lerer, D. Grid, D. Bacq, M. Tazir, D. Zelenika, Z. Argov, A. Durr, M. Yahyaoui, A. Benomar, A. Brice, and G. Stevanin. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Neurogenetics, 8(4):307-15., 2007. Note: Journal article. [WWW]



3. S. Klebe, A. Durr, N. Bouslam, D. Grid, C. Paternotte, C. Depienne, S. Hanein, A. Bouhouche, N. Elleuch, H. Azzedine, S. Poea-Guyon, S. Forlani, E. Denis, C. Charon, J. Hazan, A. Brice, and G. Stevanin. Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. Am J Med Genet B Neuropsychiatr Genet, 144(7):854-61., 2007. Note: Journal article. [WWW]



4. G. Stevanin, F. M. Santorelli, H. Azzedine, P. Coutinho, J. Chomilier, P. S. Denora, E. Martin, A. M. Ouvrard-Hernandez, A. Tessa, N. Bouslam, A. Lossos, P. Charles, J. L. Loureiro, N. Elleuch, C. Confavreux, V. T. Cruz, M. Ruberg, E. Leguern, D. Grid, M. Tazir, B. Fontaine, A. Filla, E. Bertini, A. Durr, and A. Brice. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet, 39(3):366-372, 2007. Note: Journal article. [WWW]



5. S. Klebe, H. Azzedine, A. Durr, P. Bastien, N. Bouslam, N. Elleuch, S. Forlani, C. Charon, M. Koenig, J. Melki, A. Brice, and G. Stevanin. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain, 129(Pt 6):1456-62, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Cerebellar Ataxia/complications/*genetics/physiopathology, Chromosomes, Human, Pair 2/*genetics, Consanguinity, Female, Genes, Recessive, Genotype, Hereditary Sensory and Autonomic, Neuropathies/complications/*genetics/physiopathology, Humans, Lod Score, Male, Neural Conduction, Pedigree, Phenotype, Spastic Paraplegia, Hereditary/complications/*genetics/physiopathology.



6. A. Lossos, G. Stevanin, V. Meiner, Z. Argov, N. Bouslam, J. P. Newman, J. M. Gomori, S. Klebe, I. Lerer, N. Elleuch, S. Silverstein, A. Durr, O. Abramsky, Z. Ben-Nariah, and A. Brice. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Arch Neurol, 63(5):756-60, 2006. Note: Comparative StudyJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Chromosomes, Human, Pair 15/genetics, Corpus Callosum/*abnormalities/*pathology, DNA Mutational Analysis/methods, Family Health, Female, *Genetic Heterogeneity, Humans, Linkage (Genetics), Magnetic Resonance Imaging/methods, Male, Membrane Proteins/classification/genetics, Pedigree, Spastic Paraplegia, Hereditary/*genetics/*pathology.



7. 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.



8. G. Stevanin, G. Montagna, H. Azzedine, E. M. Valente, A. Durr, V. Scarano, N. Bouslam, D. Cassandrini, P. S. Denora, C. Criscuolo, S. Belarbi, A. Orlacchio, P. Jonveaux, G. Silvestri, A. M. Hernandez, G. De Michele, M. Tazir, C. Mariotti, K. Brockmann, A. Malandrini, M. S. van der Knapp, M. Neri, H. Tonekaboni, M. A. Melone, A. Tessa, M. T. Dotti, M. Tosetti, F. Pauri, A. Federico, C. Casali, V. T. Cruz, J. L. Loureiro, F. Zara, S. Forlani, E. Bertini, P. Coutinho, A. Filla, A. Brice, and F. M. Santorelli. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics, 7(3):149-56, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



9. N. Bouslam, A. Benomar, H. Azzedine, A. Bouhouche, M. Namekawa, S. Klebe, C. Charon, A. Durr, M. Ruberg, A. Brice, M. Yahyaoui, and G. Stevanin. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol, 57(4):567-71, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, *Chromosome Mapping, *Chromosomes, Human, Pair 14, Female, Humans, Lod Score, Male, Microsatellite Repeats, Middle Aged, Morocco, Pedigree, Polymerase Chain Reaction, Spastic Paraplegia, Hereditary/*genetics.



10. 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.



11. 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.



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.



13. G. Stevanin, N. Bouslam, S. Thobois, H. Azzedine, L. Ravaux, A. Boland, M. Schalling, E. Broussolle, A. Durr, and A. Brice. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol, 55(1):97-104, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Action Potentials/physiology, Adult, Brain/pathology, Child, *Chromosome Mapping, Chromosomes, Human, Pair 2/*genetics, Female, *Genes, Dominant, Haplotypes, Humans, Infant, Lod Score, Magnetic Resonance Imaging, Male, Middle Aged, Neural Conduction/physiology, Neurons, Afferent/pathology, Pedigree, Polymerase Chain Reaction, Spinocerebellar Ataxias/*genetics/pathology/physiopathology.



14. G. Stevanin, V. Hahn, E. Lohmann, N. Bouslam, M. Gouttard, C. Soumphonphakdy, M. L. Welter, E. Ollagnon-Roman, A. Lemainque, M. Ruberg, A. Brice, and A. Durr. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol, 61(8):1242-8, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Amino Acid Sequence, Base Sequence, Brain/pathology, Catalytic Domain/*genetics, Chromosomes, Human, Pair 19/enzymology/genetics, Female, Humans, Linkage (Genetics)/genetics, Male, Middle Aged, Molecular Sequence Data, *Mutation, Missense, Pedigree, *Phenotype, Protein Kinase C/*genetics, Spinocerebellar Ataxias/*enzymology/*genetics/pathology.

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