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. P. Labauge, L. Horzinski, X. Ayrignac, P. Blanc, S. Vukusic, D. Rodriguez, F. Mauguiere, L. Peter, C. Goizet, F. Bouhour, C. Denier, C. Confavreux, M. Obadia, F. Blanc, J. de Seze, A. Fogli, and O. Boespflug-Tanguy. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain, 132(Pt 8):2161-9, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]



3. P. Laforet, C. Acquaviva-Bourdain, O. Rigal, M. Brivet, I. Penisson-Besnier, B. Chabrol, D. Chaigne, O. Boespflug-Tanguy, C. Laroche, A. L. Bedat-Millet, A. Behin, I. Delevaux, A. Lombes, B. S. Andresen, B. Eymard, and C. Vianey-Saban. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord, 19(5):324-9, 2009. Note: Journal ArticleEnglandNmd. [WWW] Keyword(s): Acyl-CoA Dehydrogenase, Long-Chain/*genetics, Adolescent, Adult, Biological Markers/analysis/blood, Carnitine/analogs & derivatives/analysis/blood, Cells, Cultured, Child, DNA Mutational Analysis, Exercise Tolerance/genetics, Female, Genetic Screening, Genotype, Heterozygote, Homozygote, Humans, Male, Metabolism, Inborn Errors/diagnosis/enzymology/genetics, Middle Aged, Mitochondrial Diseases/*diagnosis/*enzymology/genetics, Muscle Weakness/enzymology/genetics/physiopathology, Muscular Diseases/*diagnosis/*enzymology/genetics, Mutation/genetics, Rhabdomyolysis/enzymology/genetics/physiopathology, Young Adult.



4. C. Mignot, I. Desguerre, L. Burglen, L. Hertz-Pannier, F. Renaldo, J. F. Gadisseux, S. Gallet, D. Pham-Dinh, O. Boespflug-Tanguy, and D. Rodriguez. Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. Brain Dev, 31(3):244-7, 2009. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW] Keyword(s): Alexander Disease/genetics/*pathology, Brain/abnormalities/pathology, Child, Preschool, DNA Mutational Analysis, Female, Glial Fibrillary Acidic Protein/genetics, Glioma/*pathology, Humans, Infant, Magnetic Resonance Imaging, Mutation, Missense, Optic Chiasm/*pathology, Optic Nerve Neoplasms/*pathology, Papilledema/pathology.



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. A. Fogli, C. Barbier, I. Cournu-Rebeix, M. Babron, F. Clerget-Darpoux, B. Fontaine, and O. Boespflug-Tanguy. Letter to the Editor: No evidence for association between the EIF2B5 gene and multiple sclerosis in French families. Mult Scler, 14(4):573, 2008. Note: Journal ArticleEngland. [WWW]

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