1. M. Anheim, C. Lagier-Tourenne, G. Stevanin, M. Fleury, A. Durr, I. J. Namer, P. Denora, A. Brice, J. L. Mandel, M. Koenig, and C. Tranchant. SPG11 spastic paraplegia : A new cause of juvenile parkinsonism. J Neurol, 2009. Note: Journal article. [WWW]



2. M. Anheim, B. Monga, M. Fleury, P. Charles, C. Barbot, M. Salih, J. P. Delaunoy, M. Fritsch, L. Arning, M. Synofzik, L. Schols, J. Sequeiros, C. Goizet, C. Marelli, I. Le Ber, J. Koht, J. Gazulla, J. De Bleecker, M. Mukhtar, N. Drouot, L. Ali-Pacha, T. Benhassine, M. Chbicheb, A. M'Zahem, A. Hamri, B. Chabrol, J. Pouget, R. Murphy, M. Watanabe, P. Coutinho, M. Tazir, A. Durr, A. Brice, C. Tranchant, and M. Koenig. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 132(Pt 10):2688-98, 2009. Note: Journal articlea journal of neurology. [WWW]



3. M. Anheim, D. Chaigne, M. Fleury, F. M. Santorelli, J. De Seze, A. Durr, A. Brice, M. Koenig, and C. Tranchant. [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. Rev Neurol (Paris), 164(4):363-8, 2008. Note: English AbstractJournal ArticleFrance. [WWW]



4. I. Le Ber, O. Dubourg, J. F. Benoist, C. Jardel, F. Mochel, M. Koenig, A. Brice, A. Lombes, and A. Durr. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology, 68(4):295-297, 2007. [WWW]



5. P. Ribai, F. Pousset, M. L. Tanguy, S. Rivaud-Pechoux, I. Le Ber, F. Gasparini, P. Charles, A. S. Beraud, M. Schmitt, M. Koenig, A. Mallet, A. Brice, and A. Durr. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol, 64(4):558-564, 2007. [WWW]



6. 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.



7. F. Ochsner, I. Le Ber, G. Said, M. C. Moreira, P. Michel, M. Koenig, A. Durr, A. Brice, and T. Kuntzer. [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]. Rev Neurol (Paris), 161(3):331-6, 2005. Note: Case ReportsEnglish AbstractJournal ArticleFrance. [WWW] Keyword(s): Brain/pathology, Cerebellar Ataxia/*genetics/pathology, Charcot-Marie-Tooth Disease/*genetics/pathology, DNA-Binding Proteins/*genetics, Humans, Infant, Magnetic Resonance Imaging, Male, Nuclear Proteins/*genetics, Phenotype, Sural Nerve/pathology.



8. 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.



9. 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.



10. I. Le Ber, M. C. Moreira, S. Rivaud-Pechoux, C. Chamayou, F. Ochsner, T. Kuntzer, M. Tardieu, G. Said, M. O. Habert, G. Demarquay, C. Tannier, J. M. Beis, A. Brice, M. Koenig, and A. Durr. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain, 126(Pt 12):2761-72, 2003. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Apraxias/*genetics/pathology/psychology, Cerebellar Ataxia/*genetics/pathology/psychology, Cognition Disorders/etiology, DNA-Binding Proteins/genetics, Disease Progression, Electrooculography, Humans, Magnetic Resonance Imaging, Male, Mutation, Neuropsychological Tests, Nuclear Proteins/genetics, Ocular Motility Disorders/*genetics/pathology/psychology, Phenotype, Sural Nerve/ultrastructure.

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