1. S. Thier, D. Lorenz, M. Nothnagel, G. Stevanin, A. Durr, A. Nebel, S. Schreiber, G. Kuhlenbaumer, G. Deuschl, and S. Klebe. LINGO1 polymorphisms are associated with essential tremor in Europeans. Mov Disord, 2010. Note: Journal articleofficial journal of the Movement Disorder Society. [WWW]



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. 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]



4. 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.



5. 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]



6. 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]



7. 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.



8. 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]



9. 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.



10. G. Deuschl, C. Schade-Brittinger, P. Krack, J. Volkmann, H. Schafer, K. Botzel, C. Daniels, A. Deutschlander, U. Dillmann, W. Eisner, D. Gruber, W. Hamel, J. Herzog, R. Hilker, S. Klebe, M. Kloss, J. Koy, M. Krause, A. Kupsch, D. Lorenz, S. Lorenzl, H. M. Mehdorn, J. R. Moringlane, W. Oertel, M. O. Pinsker, H. Reichmann, A. Reuss, G. H. Schneider, A. Schnitzler, U. Steude, V. Sturm, L. Timmermann, V. Tronnier, T. Trottenberg, L. Wojtecki, E. Wolf, W. Poewe, and J. Voges. A randomized trial of deep-brain stimulation for Parkinson's disease. N Engl J Med, 355(9):896-908, 2006. Note: German Parkinson Study Group, Neurostimulation SectionComparative StudyJournal ArticleMulticenter StudyRandomized Controlled TrialResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Activities of Daily Living, Aged, Antiparkinson Agents/adverse effects/*therapeutic use, *Deep Brain Stimulation/adverse effects, Dyskinesias/etiology/therapy, Female, Humans, Male, Middle Aged, Parkinson Disease/complications/drug therapy/*therapy, *Quality of Life, Severity of Illness Index, Treatment Outcome.



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. S. Klebe, G. Deuschl, and H. Stolze. Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia. Mov Disord, 21(9):1468-71, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW]



13. 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.



14. 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.



15. 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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