1. P. S. Denora, D. Schlesinger, C. Casali, F. Kok, A. Tessa, A. Boukhris, H. Azzedine, M. T. Dotti, C. Bruno, J. Truchetto, R. Biancheri, E. Fedirko, M. Di Rocco, C. Bueno, A. Malandrini, R. Battini, E. Sickl, M. F. de Leva, O. Boespflug-Tanguy, G. Silvestri, A. Simonati, E. Said, A. Ferbert, C. Criscuolo, K. Heinimann, A. Modoni, P. Weber, S. Palmeri, M. Plasilova, F. Pauri, D. Cassandrini, C. Battisti, A. Pini, M. Tosetti, E. Hauser, M. Masciullo, R. Di Fabio, F. Piccolo, E. Denis, G. Cioni, R. Massa, E. Della Giustina, O. Calabrese, M. A. Melone, G. De Michele, A. Federico, E. Bertini, A. Durr, K. Brockmann, M. S. van der Knaap, M. Zatz, A. Filla, A. Brice, G. Stevanin, and F. M. Santorelli. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat, 30(3):E500-19, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Algeria, Base Sequence, Brazil, Corpus Callosum/*abnormalities, DNA Mutational Analysis, Family Health, Female, *Gene Deletion, Gene Frequency, Genes, Recessive, Genetic Screening, Genotype, Haplotypes, Humans, Male, Middle Aged, Morocco, *Mutation, Pedigree, Portugal, Proteins/*genetics, Spastic Paraplegia, Hereditary/diagnosis/ethnology/*genetics, Young Adult.



2. D. Lorenz, S. Klebe, G. Stevanin, S. Thier, A. Nebel, J. Feingold, H. Frederiksen, E. Denis, K. Christensen, S. Schreiber, A. Brice, G. Deuschl, and A. Durr. Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. Eur J Hum Genet, 17(6):766-73, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglandEjhg. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Denmark, Essential Tremor/ethnology/*genetics, European Continental Ancestry Group/genetics, Female, France, Genetic Variation, Genotype, Germany, Humans, Linkage (Genetics), Male, Middle Aged, Pedigree, Receptors, Dopamine D3/*genetics.



3. A. Boukhris, I. Feki, E. Denis, M. I. Miladi, A. Brice, C. Mhiri, and G. Stevanin. Spastic paraplegia 15: linkage and clinical description of three Tunisian families. Mov Disord, 23(3):429-33, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW]



4. 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]



5. P. S. Denora, D. Schlesinger, C. Casali, F. Kok, A. Tessa, A. Boukhris, H. Azzedine, M. T. Dotti, C. Bruno, J. Truchetto, R. Biancheri, E. Fedirko, M. Di Rocco, C. Bueno, A. Malandrini, R. Battini, E. Sickl, M. F. de Leva, O. Boespflug-Tanguy, G. Silvestri, A. Simonati, E. Said, A. Ferbert, C. Criscuolo, K. Heinimann, A. Modoni, P. Weber, S. Palmeri, M. Plasilova, F. Pauri, D. Cassandrini, C. Battisti, A. Pini, M. Tosetti, E. Hauser, M. Masciullo, R. D. Fabio, F. Piccolo, E. Denis, G. Cioni, R. Massa, E. D. Giustina, O. Calabrese, M. A. Melone, G. De Michele, A. Federico, E. Bertini, A. Durr, K. Brockmann, M. S. van der Knaap, M. Zatz, A. Filla, A. Brice, G. Stevanin, and F. M. Santorelli. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat, 2008. Note: Journal article. [WWW]



6. D. Lorenz, S. Klebe, G. Stevanin, S. Thier, A. Nebel, J. Feingold, H. Frederiksen, E. Denis, K. Christensen, S. Schreiber, A. Brice, G. Deuschl, and A. Durr. Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. Eur J Hum Genet, 2008. Note: Journal articleEjhg. [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. 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. 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.

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