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Publications of I. Le Ber
Articles in journal or book chapters
  1. 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]


  2. L. Benajiba, I. Le Ber, A. Camuzat, M. Lacoste, C. Thomas-Anterion, P. Couratier, S. Legallic, F. Salachas, D. Hannequin, M. Decousus, L. Lacomblez, E. Guedj, V. Golfier, W. Camu, B. Dubois, D. Campion, V. Meininger, and A. Brice. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol, 65(4):470-3, 2009. Note: French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron DiseaseJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  3. I. Le Ber, A. Camuzat, E. Berger, D. Hannequin, A. Laquerriere, V. Golfier, D. Seilhean, G. Viennet, P. Couratier, P. Verpillat, S. Heath, W. Camu, O. Martinaud, L. Lacomblez, M. Vercelletto, F. Salachas, F. Sellal, M. Didic, C. Thomas-Anterion, M. Puel, B. F. Michel, C. Besse, C. Duyckaerts, V. Meininger, D. Campion, B. Dubois, and A. Brice. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology, 72(19):1669-76, 2009. Note: French Research Network on FTD/FTD-MNDJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  4. A. Rovelet-Lecrux, M. Lecourtois, C. Thomas-Anterion, I. Le Ber, A. Brice, T. Frebourg, D. Hannequin, and D. Campion. Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Hum Mutat, 30(4):E591-602, 2009. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Alternative Splicing, Blotting, Western, Cell Line, Tumor, DNA Mutational Analysis, Fatal Outcome, *Gene Deletion, Humans, Immunoprecipitation, Male, Microscopy, Confocal, Microtubule-Associated Proteins/immunology/metabolism, Microtubules/metabolism, Protein Binding, Protein Isoforms/genetics/metabolism, Tauopathies/*genetics/metabolism/pathology, Transfection, tau Proteins/*genetics/metabolism.


  5. E. Guedj, G. Allali, C. Goetz, I. Le Ber, M. Volteau, L. Lacomblez, P. Vera, A. Hitzel, D. Hannequin, M. Decousus, C. Thomas-Anterion, C. Magne, M. Vercelletto, A. M. Bernard, M. Didic, J. A. Lotterie, M. Puel, A. Brice, M. O. Habert, and B. Dubois. Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementia. J Neurol Sci, 273(1-2):84-7, 2008. Note: French research network on FTD/FTD-MNDJournal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW]


  6. I. Le Ber, A. Camuzat, D. Hannequin, F. Pasquier, E. Guedj, A. Rovelet-Lecrux, V. Hahn-Barma, J. van der Zee, F. Clot, S. Bakchine, M. Puel, M. Ghanim, L. Lacomblez, J. Mikol, V. Deramecourt, P. Lejeune, V. de la Sayette, S. Belliard, M. Vercelletto, C. Meyrignac, C. Van Broeckhoven, J. C. Lambert, P. Verpillat, D. Campion, M. O. Habert, B. Dubois, and A. Brice. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain, 131(Pt 3):732-46, 2008. Note: French research network on FTD/FTD-MNDJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, Aphasia, Primary Progressive/genetics, Brain/pathology/physiopathology, Brain Mapping/methods, Cognition Disorders/etiology, Dementia/*genetics/pathology/psychology, Disease Progression, Epidemiologic Methods, Female, Heterozygote, Humans, Intercellular Signaling Peptides and Proteins/*genetics, Magnetic Resonance Imaging, Male, Middle Aged, Motor Neuron Disease/genetics, *Mutation, Neuropsychological Tests, Phenotype.


  7. A. Rovelet-Lecrux, V. Deramecourt, S. Legallic, C. A. Maurage, I. Le Ber, A. Brice, J. C. Lambert, T. Frebourg, D. Hannequin, F. Pasquier, and D. Campion. Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiol Dis, 31(1):41-5, 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. Y. Baba, M. C. Baker, I. Le Ber, A. Brice, L. Maeck, J. Kohlhase, M. Yasuda, G. Stoppe, O. Bugiani, A. D. Sperfeld, Y. Tsuboi, R. J. Uitti, M. J. Farrer, B. Ghetti, M. L. Hutton, and Z. K. Wszolek. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. J Neural Transm, 114(7):947-950, 2007. [WWW]


  11. P. Charles, A. Camuzat, N. Benammar, F. Sellal, A. Destee, A. M. Bonnet, S. Lesage, I. Le Ber, G. Stevanin, A. Durr, and A. Brice. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?. Neurology, 2007. Note: French Parkinson's Disease Genetics Study Group*Journal article. [WWW]


  12. E. Guedj, I. Le Ber, L. Lacomblez, B. Dubois, P. Verpillat, M. Didic, F. Salachas, P. Vera, D. Hannequin, J. A. Lotterie, M. Puel, M. Decousus, C. Thomas-Anterion, C. Magne, M. Vercelletto, A. M. Bernard, V. Golfier, J. Pasquier, B. F. Michel, I. Namer, F. Sellal, J. Bochet, M. Volteau, A. Brice, V. Meininger, and M. O. Habert. Brain spect perfusion of frontotemporal dementia associated with motor neuron disease. Neurology, 69(5):488-90, 2007. Note: French Research Network on FTD/FTD-MNDJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralUnited States. [WWW] Keyword(s): Aged, Brain/blood supply/*physiopathology/*radionuclide imaging, Brain Mapping, Cerebral Arteries/physiopathology/radionuclide imaging, Cerebrovascular Circulation/physiology, Comorbidity, Dementia/complications/*physiopathology/*radionuclide imaging, Female, Humans, Image Processing, Computer-Assisted, Male, Middle Aged, Motor Neuron Disease/complications/*physiopathology/*radionuclide imaging, Predictive Value of Tests, Tomography, Emission-Computed, Single-Photon.


  13. I. Le Ber, A. Brice, and A. Durr. Predominant dystonia with marked cerebellar atrophy: A rare phenotype in familial dystonia - Reply from the authors. Neurology, 68(24):2157-2158, 2007. [WWW]


  14. I. Le Ber, A. Camuzat, J. van der Zee, D. Hannequin, F. Pasquier, I. Gijselinck, D. Campion, M. Puel, A. Laquerriere, T. De Pooter, M. Van den Broeck, B. Dubois, F. Sellal, L. Lacomblez, M. Vercelletto, C. Thomas-Anterion, B. F. Michel, V. Golfier, M. Didic, F. Salachas, C. Duyckaerts, J. C. Lambert, M. Cruts, P. Verpillat, C. Van Broeckhoven, and A. Brice. PGRN gene mutations in both sporadic and familial frontotemporal dementia. Neurology, 68(12):A351-A351, 2007. Note: Suppl. 1. [WWW]


  15. I. Le Ber and B. Dubois. [Frontotemporal dementia]. Presse Med, 36(10 Pt 2):1477-84, 2007. Note: Comparative StudyEnglish AbstractJournal ArticleReviewFrance1983). [WWW] Keyword(s): Adenosine Triphosphatases/genetics, Aged, Aged, 80 and over, Alzheimer Disease/diagnosis, Amyotrophic Lateral Sclerosis/complications, Aphasia, Primary Progressive/complications, Brain/radiography/radionuclide imaging, Cell Cycle Proteins/genetics, *Dementia/complications/drug therapy/genetics/radiography/radionuclide, imaging/therapy, Diagnosis, Differential, Fluoxetine/therapeutic use, *Frontal Lobe, Humans, Microtubule-Associated Proteins/genetics, Middle Aged, Parkinsonian Disorders/complications, Serotonin Uptake Inhibitors/therapeutic use, *Temporal Lobe, Tomography, Emission-Computed, Single-Photon, Tomography, X-Ray Computed, Trazodone/therapeutic use.


  16. 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]


  17. I. Le Ber, J. van der Zee, D. Hannequin, I. Gijselinck, D. Campion, M. Puel, A. Laquerriere, T. De Pooter, A. Camuzat, M. Van den Broeck, B. Dubois, F. Sellal, L. Lacomblez, M. Vercelletto, C. Thomas-Anterion, B. F. Michel, V. Golfier, M. Didic, F. Salachas, C. Duyckaerts, M. Cruts, P. Verpillat, C. Van Broeckhoven, and A. Brice. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat, 28(9):846-55, 2007. Note: French Research Network on FTD/FTD-MNDJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  18. 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]


  19. J. van der Zee, I. Le Ber, S. Engelborghs, S. Maurer-Stroh, I. Gijselinck, N. Brouwers, K. Sleegers, J. J. Martin, T. De Pooter, K. Peeters, M. Mattheijssens, M. Van den Broeck, J. Schymkowitz, F. Rousseau, P. De Deyn, M. Cruts, A. Brice, and C. Van Broeckhoven. Genetic contribution of PGRN, MAPT, VCP, and CHMP2B to the etiology of frontotemporal dementia. Neurology, 68(12):A201-A201, 2007. Note: Suppl. 1. [WWW]


  20. J. van der Zee, I. Le Ber, S. Maurer-Stroh, S. Engelborghs, I. Gijselinck, A. Camuzat, N. Brouwers, R. Vandenberghe, K. Sleegers, D. Hannequin, B. Dermaut, J. Schymkowitz, D. Campion, P. Santens, J. J. Martin, L. Lacomblez, T. De Pooter, K. Peeters, M. Mattheijssens, M. Vercelletto, M. Van den Broeck, M. Cruts, P. P. De Deyn, F. Rousseau, A. Brice, and C. Van Broeckhoven. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat, 28(4):416, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Case-Control Studies, Conserved Sequence, DNA Mutational Analysis, Dementia/*genetics/metabolism/pathology, Female, Humans, Intercellular Signaling Peptides and, Proteins/biosynthesis/deficiency/*genetics/metabolism, Male, Microsatellite Repeats, Middle Aged, Molecular Sequence Data, *Mutation, Missense, Protein Conformation, Protein Folding, Protein Structure, Tertiary.


  21. L. Guyant-Marechal, A. Laquerriere, C. Duyckaerts, C. Dumanchin, J. Bou, F. Dugny, I. Le Ber, T. Frebourg, D. Hannequin, and D. Campion. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology, 67(4):644-51, 2006. Note: Journal ArticleUnited States. [WWW] Keyword(s): Cell Cycle Proteins/*genetics, Chromosome Disorders/epidemiology/*genetics, DNA Mutational Analysis, Dementia/epidemiology/*genetics, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Heterozygote, Humans, Incidence, Male, Middle Aged, Multiple Organ Failure/epidemiology/*genetics, Mutation, Myositis, Inclusion Body/epidemiology/*genetics, Osteitis Deformans/epidemiology/*genetics, Pedigree, Prevalence, Retrospective Studies, Risk Assessment/*methods, Risk Factors, Syndrome.


  22. I. Le Ber, F. Clot, L. Vercueil, A. Camuzat, M. Viemont, N. Benamar, P. De Liege, A. M. Ouvrard-Hernandez, P. Pollak, G. Stevanin, A. Brice, and A. Durr. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology, 67(10):1769-73, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  23. I. Le Ber, E. Guedj, A. Gabelle, P. Verpillat, M. Volteau, C. Thomas-Anterion, M. Decousus, D. Hannequin, P. Vera, L. Lacomblez, A. Camuzat, M. Didic, M. Puel, J. A. Lotterie, V. Golfier, A. M. Bernard, M. Vercelletto, C. Magne, F. Sellal, I. Namer, B. F. Michel, J. Pasquier, F. Salachas, J. Bochet, A. Brice, M. O. Habert, and B. Dubois. Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia. Brain, 129(Pt 11):3051-65, 2006. Note: French research network on FTD/FTD-MNDJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Brain/physiopathology/*radionuclide imaging, Brain Mapping/methods, Brain Stem/radionuclide imaging, Cerebrovascular Circulation, Cross-Sectional Studies, Dementia/genetics/*psychology/radionuclide imaging, Disease Progression, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Prognosis, Social Behavior Disorders/*etiology, Survival Analysis, Tomography, Emission-Computed, Single-Photon.


  24. I. Le Ber, S. Rivaud-Pechoux, A. Brice, and A. Durr. [Autosomal recessive cerebellar ataxias with oculomotor apraxia]. Rev Neurol (Paris), 162(2):177-84, 2006. Note: English AbstractJournal ArticleReviewFrance. [WWW] Keyword(s): Apraxias/*complications/genetics, Cerebellar Ataxia/classification/*complications/genetics, DNA Damage, DNA Repair, DNA-Binding Proteins/genetics, Genes, Recessive, Humans, Nuclear Proteins/genetics, Oculomotor Nerve Diseases/*complications/genetics, RNA Helicases/genetics.


  25. V. Biancalana, M. Toft, I. Le Ber, F. Tison, E. Scherrer, S. Thibodeau, J. L. Mandel, A. Brice, M. J. Farrer, and A. Durr. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol, 62(6):962-6, 2005. Note: Ns40256/ns/nindsCase ReportsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adult, Aged, Alleles, Cerebellar Ataxia/complications/*genetics, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome/complications/*genetics, Humans, Male, Middle Aged, Multiple System Atrophy/complications/*genetics, *Mutation, Nerve Tissue Proteins/*genetics, Olivopontocerebellar Atrophies/complications/genetics, RNA-Binding Proteins/*genetics, Tremor/complications/*genetics.


  26. I. Le Ber, A. Brice, and A. Durr. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr Neurol Neurosci Rep, 5(5):411-7, 2005. Note: Journal ArticleReviewUnited States. [WWW] Keyword(s): Cerebellar Ataxia/*complications/*genetics, DNA-Binding Proteins/classification/*genetics, Humans, Mutation, Nuclear Proteins/classification/*genetics, Ocular Motility Disorders/*complications/*genetics.


  27. 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.


  28. 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.


  29. I. Le Ber, M. Martinez, D. Campion, A. Laquerriere, C. Betard, G. Bassez, C. Girard, P. Saugier-Veber, G. Raux, N. Sergeant, P. Magnier, T. Maisonobe, B. Eymard, C. Duyckaerts, A. Delacourte, T. Frebourg, and D. Hannequin. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Brain, 127(Pt 9):1979-92, 2004. Note: Journal ArticleEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Chromosome Mapping/methods, Chromosomes, Human, Pair 15/*genetics, Dementia/complications/*genetics/pathology, Female, Humans, Linkage (Genetics)/genetics, Magnetic Resonance Imaging, Male, Middle Aged, Muscle Weakness/etiology/genetics/pathology, Muscle, Skeletal/pathology, Myosin Heavy Chains/analysis, Myotonic Disorders/complications/*genetics/pathology, Pedigree, Phenotype, RNA-Binding Proteins/genetics, Sex Ratio, tau Proteins/analysis.


  30. 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.


  31. I. Le Ber, A. Camuzat, G. Castelnovo, J. P. Azulay, P. Genton, J. L. Gastaut, D. Broglin, P. Labauge, A. Brice, and A. Durr. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Arch Neurol, 60(8):1097-9, 2003. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Brain/pathology, Cerebellar, Ataxia/complications/*epidemiology/*genetics/pathology/physiopathology, Europe/epidemiology, European Continental Ancestry Group, Female, Humans, Male, Middle Aged, Myoclonic Epilepsies,, Progressive/*epidemiology/etiology/*genetics/pathology/physiopathology, Nerve Tissue Proteins/*genetics, Pedigree, Phenotype, Prevalence, Trinucleotide Repeats.


  32. 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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