1. A. Bouhouche, N. Birouk, H. Azzedine, A. Benomar, G. Durosier, D. Ente, M. P. Muriel, M. Ruberg, I. Slassi, M. Yahyaoui, O. Dubourg, R. Ouazzani, and E. LeGuern. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. Brain, 130:1062-1075, 2007. Note: Part 4. [WWW]



2. 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]



3. H. Azzedine, N. Ravise, C. Verny, A. Gabreels-Festen, M. Lammens, D. Grid, J. M. Vallat, G. Durosier, J. Senderek, S. Nouioua, T. Hamadouche, A. Bouhouche, A. Guilbot, C. Stendel, M. Ruberg, A. Brice, N. Birouk, O. Dubourg, M. Tazir, and E. LeGuern. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology, 67(4):602-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/*epidemiology/*genetics, Chromosome Mapping, DNA Mutational Analysis, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Humans, Incidence, Male, Mutation, Pedigree, Risk Assessment/*methods, Risk Factors, Spinal Curvatures/*epidemiology/*genetics, Spine/*abnormalities.



4. O. Dubourg, H. Azzedine, C. Verny, G. Durosier, N. Birouk, R. Gouider, M. Salih, A. Bouhouche, A. Thiam, D. Grid, M. Mayer, M. Ruberg, M. Tazir, A. Brice, and E. LeGuern. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med, 8(1-2):75-86, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



5. O. Dubourg, H. Azzedine, R. B. Yaou, J. Pouget, A. Barois, V. Meininger, D. Bouteiller, M. Ruberg, A. Brice, and E. LeGuern. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology, 66(11):1721-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Age of Onset, DNA Mutational Analysis, Family, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Glycine-tRNA Ligase/*genetics, Heterozygote, Humans, Incidence, Jews/genetics, Muscular Atrophy, Spinal/*epidemiology/*genetics, Mutation, Risk Assessment/*methods, Risk Factors.



6. M. Naimi, S. Tardieu, C. Depienne, M. Ruberg, A. Brice, O. Dubourg, and E. Leguern. Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. Am J Med Genet A, 136(2):136-9, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/genetics/pathology, Chromatography, High Pressure Liquid/*methods, *Chromosome Aberrations, Chromosomes, Human, Pair 17/genetics, DNA/genetics, Gene Dosage, Hereditary Motor and Sensory Neuropathies/genetics/pathology, Humans, Myelin Proteins/genetics, Paralysis/genetics/pathology, Polymerase Chain Reaction, Prospective Studies, Reproducibility of Results.



7. C. Verny, N. Ravise, A. L. Leutenegger, F. Pouplard, O. Dubourg, S. Tardieu, F. Dubas, A. Brice, E. Genin, and E. LeGuern. Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family. Neurology, 63(8):1527-9, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Charcot-Marie-Tooth Disease/*genetics, *Chromosome Aberrations, Chromosomes, Human, Pair 17/*genetics, DNA Mutational Analysis, Disease Progression, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Humans, Inheritance Patterns/*genetics, Male, Muscle Weakness/genetics/pathology/physiopathology, Mutation/*genetics, Nerve Fibers, Myelinated/pathology, Pedigree, Peripheral Nerves/pathology/physiopathology, Protein-Tyrosine-Phosphatase/genetics.



8. H. Azzedine, M. Ruberg, D. Ente, C. Gilardeau, S. Perie, B. Wechsler, A. Brice, E. LeGuern, and O. Dubourg. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord, 13(4):341-6, 2003. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tEnglandNmd. [WWW] Keyword(s): Adult, Arginine/genetics, Charcot-Marie-Tooth Disease/*genetics, DNA Mutational Analysis, Disease Progression, Electrophysiology, Family, Female, Genes, Recessive, Glutamine/genetics, Humans, Male, *Mutation, Nerve Tissue Proteins/*genetics, Pedigree, Phenotype, Serine/genetics.



9. N. Birouk, H. Azzedine, O. Dubourg, M. P. Muriel, A. Benomar, T. Hamadouche, T. Maisonobe, R. Ouazzani, A. Brice, M. Yahyaoui, T. Chkili, and E. Le Guern. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch Neurol, 60(4):598-604, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Charcot-Marie-Tooth Disease/*ethnology/*genetics/pathology, Child, Preschool, Consanguinity, DNA Mutational Analysis, Electrophysiology, Female, Genes, Recessive/*genetics, Humans, Infant, Lod Score, Male, Morocco/ethnology, *Mutation, Pedigree, Phenotype, Serine/genetics.



10. N. Ravise, O. Dubourg, S. Tardieu, F. Aurias, M. Mercadiel, P. Coullin, M. Ruberg, M. Catala, S. Lesourd, A. Brice, and E. LeGuern. Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies. Am J Med Genet A, 118(1):43-8, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/diagnosis/genetics, *Chromosome Aberrations, *Chromosomes, Human, Pair 17, Humans, In Situ Hybridization, Fluorescence, Paralysis/genetics, Peripheral Nervous System Diseases/diagnosis/genetics.

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