1. 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.



2. A. Boukhris, G. Stevanin, I. Feki, E. Denis, N. Elleuch, M. I. Miladi, J. Truchetto, P. Denora, S. Belal, C. Mhiri, and A. Brice. Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia: SPG11, SPG15, and Further Genetic Heterogeneity. Arch Neurol, 65(3):393-402, 2008. Note: Journal article. [WWW]



3. 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]



4. 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]



5. I. Feki, M. I. Miladi, N. Elleuch, A. Boukhris, G. Stevanin, A. Brice, and C. Mhiri. [Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]. Rev Neurol (Paris), 163(4):476-9, 2007. Note: Case ReportsEnglish AbstractJournal ArticleFrance. [WWW] Keyword(s): Adult, Brachial Plexus Neuritis/genetics/*pathology, Electric Stimulation, Electromyography, Evoked Potentials, Somatosensory/physiology, Female, Foot/pathology, Hand/*pathology, Humans, Magnetic Resonance Imaging, Male, Neurologic Examination, Paraplegia/genetics/*pathology, Pedigree, Syndrome.



6. 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]



7. 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]



8. G. Stevanin, C. Paternotte, P. Coutinho, S. Klebe, N. Elleuch, J. L. Loureiro, E. Denis, V. T. Cruz, A. Durr, J. F. Prud'homme, J. Weissenbach, A. Brice, and J. Hazan. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology, 68(21):1837-40, 2007. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Brain Stem/abnormalities/metabolism/physiopathology, Cerebellum/abnormalities/metabolism/physiopathology, Chromosome Mapping, Chromosomes, Human, Pair 14/*genetics, Consanguinity, DNA Mutational Analysis, Female, GTP Phosphohydrolases/genetics, Genetic Markers/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Inheritance Patterns/genetics, Male, Mental Retardation/genetics/metabolism/physiopathology, Mutation/*genetics, Nervous System Malformations/genetics/metabolism/physiopathology, Pedigree, Spastic Paraplegia, Hereditary/*genetics/metabolism/physiopathology.



9. 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]



10. N. Elleuch, C. Depienne, A. Benomar, A. M. Hernandez, X. Ferrer, B. Fontaine, D. Grid, C. M. Tallaksen, R. Zemmouri, G. Stevanin, A. Durr, and A. Brice. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology, 66(5):654-9, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Brain/pathology, DNA Mutational Analysis, Europe, Exons, Humans, Metalloendopeptidases/*genetics, *Mutation, Polymorphism, Genetic, Reverse Transcriptase Polymerase Chain Reaction, Spastic Paraplegia, Hereditary/*genetics/pathology, Variation (Genetics).



11. 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.



12. 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.

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