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. 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]



3. 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]



4. 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]



5. 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.



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. G. Stevanin, F. M. Santorelli, H. Azzedine, P. Coutinho, J. Chomilier, P. S. Denora, E. Martin, A. M. Ouvrard-Hernandez, A. Tessa, N. Bouslam, A. Lossos, P. Charles, J. L. Loureiro, N. Elleuch, C. Confavreux, V. T. Cruz, M. Ruberg, E. Leguern, D. Grid, M. Tazir, B. Fontaine, A. Filla, E. Bertini, A. Durr, and A. Brice. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet, 39(3):366-372, 2007. Note: Journal article. [WWW]



8. G. Stevanin, F. Santorelli, H. Azzedine, P. Coutinho, P. Denora, E. Martin, A. Lossos, B. Fontaine, A. Filla, E. Bertini, A. Durr, and A. Brice. Mutations in the SPG11 gene are a major cause of spastic paraplegia with thin corpus callosum. Neurology, 68(12):A201-A201, 2007. Note: Suppl. 1. [WWW]



9. 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.



10. 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]



11. 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.



12. 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.



13. G. Stevanin, G. Montagna, H. Azzedine, E. M. Valente, A. Durr, V. Scarano, N. Bouslam, D. Cassandrini, P. S. Denora, C. Criscuolo, S. Belarbi, A. Orlacchio, P. Jonveaux, G. Silvestri, A. M. Hernandez, G. De Michele, M. Tazir, C. Mariotti, K. Brockmann, A. Malandrini, M. S. van der Knapp, M. Neri, H. Tonekaboni, M. A. Melone, A. Tessa, M. T. Dotti, M. Tosetti, F. Pauri, A. Federico, C. Casali, V. T. Cruz, J. L. Loureiro, F. Zara, S. Forlani, E. Bertini, P. Coutinho, A. Filla, A. Brice, and F. M. Santorelli. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics, 7(3):149-56, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



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. G. Stevanin, N. Bouslam, S. Thobois, H. Azzedine, L. Ravaux, A. Boland, M. Schalling, E. Broussolle, A. Durr, and A. Brice. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol, 55(1):97-104, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Action Potentials/physiology, Adult, Brain/pathology, Child, *Chromosome Mapping, Chromosomes, Human, Pair 2/*genetics, Female, *Genes, Dominant, Haplotypes, Humans, Infant, Lod Score, Magnetic Resonance Imaging, Male, Middle Aged, Neural Conduction/physiology, Neurons, Afferent/pathology, Pedigree, Polymerase Chain Reaction, Spinocerebellar Ataxias/*genetics/pathology/physiopathology.



16. M. Tazir, H. Azzedine, S. Assami, P. Sindou, S. Nouioua, R. Zemmouri, T. Hamadouche, M. Chaouch, J. Feingold, J. M. Vallat, E. Leguern, and D. Grid. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. Brain, 127(Pt 1):154-63, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Charcot-Marie-Tooth Disease/*genetics/pathology/physiopathology, Child, Chromosomes, Human, Pair 1/genetics, Disease Progression, Female, Genes, Recessive, Humans, Lamin Type A/*genetics, Male, Median Nerve/physiopathology, *Mutation, Nerve Fibers, Myelinated/pathology, Nerve Fibers, Unmyelinated/pathology, Neural Conduction, Phenotype.



17. H. Azzedine, A. Bolino, T. Taieb, N. Birouk, M. Di Duca, A. Bouhouche, S. Benamou, A. Mrabet, T. Hammadouche, T. Chkili, R. Gouider, R. Ravazzolo, A. Brice, J. Laporte, and E. LeGuern. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet, 72(5):1141-53, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Age of Onset, Amino Acid Sequence, Carrier Proteins/*genetics, Charcot-Marie-Tooth Disease/complications/*genetics, Child, Child, Preschool, Chromosomes, Human, Pair 11/genetics, Consanguinity, DNA Mutational Analysis, Demyelinating Diseases/complications/*genetics, Female, Genes, Recessive, Glaucoma/complications/*genetics, Humans, *Intracellular Signaling Peptides and Proteins, Male, Molecular Sequence Data, Morocco, Mutation, Phosphoric Monoester Hydrolases/genetics, Physical Chromosome Mapping, Protein-Tyrosine-Phosphatase/*genetics, Sequence Homology, Amino Acid, Syndrome, Tunisia.



18. 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.



19. 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.

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