1. K. P. Figueroa, N. A. Minassian, G. Stevanin, M. Waters, V. Garibyan, S. Forlani, A. Strzelczyk, K. Burk, A. Brice, A. Durr, D. M. Papazian, and S. M. Pulst. KCNC3: Phenotype, mutations, channel biophysics - a study of 260 familial ataxia patients. Hum Mutat, 31((2)):191-6., 2010. Note: Journal article. [WWW]



2. 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.



3. 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]



4. 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.



5. 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.



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, 2008. Note: Journal article. [WWW]



7. 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]



8. 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]



9. 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.



10. 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]



11. 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.



12. 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]



13. 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]



14. S. Klebe, L. Faivre, S. Forlani, C. Dussert, A. Tourbah, A. Brice, G. Stevanin, and A. Durr. Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. Arch Neurol, 64(6):913-4, 2007. Note: Case ReportsLetterResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adenine, Amino Acid Substitution, Cysteine, Guanine, Humans, Magnetic Resonance Imaging, Male, *Mutation, Missense, Protein Kinase C/*genetics, Spinocerebellar Ataxias/classification/diagnosis/*genetics, Tyrosine.



15. S. Klebe, A. Lacour, A. Durr, T. Stojkovic, C. Depienne, S. Forlani, S. Poea-Guyon, I. Vuillaume, B. Sablonniere, P. Vermersch, A. Brice, and G. Stevanin. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics, 8(2):155-7, 2007. Note: Journal ArticleUnited States. [WWW]



16. 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.



17. 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.



18. 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]



19. 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.

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