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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. 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.



3. C. Saint-Martin, G. Gauvain, G. Teodorescu, I. Gourfinkel-An, E. Fedirko, Y. G. Weber, S. Maljevic, J. P. Ernst, J. Garcia-Olivares, C. Fahlke, R. Nabbout, E. LeGuern, H. Lerche, J. C. Poncer, and C. Depienne. Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat, 30(3):397-405, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Amino Acid Sequence, Cell Line, Chloride Channels/*genetics/physiology, DNA Mutational Analysis, Epilepsy, Generalized/*genetics/pathology/physiopathology, Family Health, Female, Humans, Male, Membrane Potentials/physiology, Middle Aged, Molecular Sequence Data, *Mutation, Missense, Patch-Clamp Techniques, Pedigree, Sequence Homology, Amino Acid, Transfection, Young Adult.



4. 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]



5. J. El Helou, V. Navarro, C. Depienne, E. Fedirko, E. Leguern, M. Baulac, I. An-Gourfinkel, and C. Adam. K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. Clin Neurophysiol, 119(10):2201-2204, 2008. Note: Journal articleofficial journal of the International Federation of Clinical Neurophysiology. [WWW]



6. P. Ribai, C. Depienne, E. Fedirko, A. C. Jothy, C. Viveweger, V. Hahn-Barma, A. Brice, and A. Durr. Mental deficiency in three families with SPG4 spastic paraplegia. Eur J Hum Genet, 16(1):97-104, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglandEjhg. [WWW] Keyword(s): Adenosine Triphosphatases/*genetics, Adult, Amino Acid Substitution, Female, Genes, Dominant, Haplotypes, Humans, Male, Mental Retardation/complications/*genetics, Middle Aged, *Mutation, Mutation, Missense, Pedigree, Phenotype, Point Mutation, Spastic Paraplegia,, Hereditary/complications/*genetics/physiopathology/psychology.



7. C. Depienne, E. Fedirko, J. M. Faucheux, S. Forlani, B. Bricka, C. Goizet, S. Lesourd, G. Stevanin, M. Ruberg, A. Durr, and A. Brice. A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics, 8(3):231-233, 2007. Note: Journal article. [WWW]



8. C. Depienne, E. Fedirko, S. Forlani, C. Cazeneuve, P. Ribai, I. Feki, C. Tallaksen, K. Nguyen, B. Stankoff, M. Ruberg, G. Stevanin, A. Durr, and A. Brice. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet, 44(4):281-4, 2007. Note: Comparative StudyLetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adenosine Triphosphatases/deficiency/*genetics, Adolescent, Adult, Age of Onset, Aged, Child, Child, Preschool, DNA Mutational Analysis, Exons/*genetics, Female, France/epidemiology, Genetic Heterogeneity, Genetic Screening, Humans, Infant, Male, Middle Aged, Point Mutation, Polymerase Chain Reaction/methods, Portugal/epidemiology, Spain/epidemiology, Spastic Paraplegia, Hereditary/epidemiology/*genetics.



9. P. Ribai, C. Depienne, E. Fedirko, A. C. Jothy, C. Viveweger, V. Capra, E. Merello, A. Brice, and A. Durr. Mental retardation is associated to spastic paraplegia in 15 patients with SPG4 mutations. Eur J Hum Genet, pp sous-presse, 2007.



10. C. Depienne, A. Arzimanoglou, O. Trouillard, E. Fedirko, S. Baulac, C. Saint-Martin, M. Ruberg, C. Dravet, R. Nabbout, M. Baulac, I. Gourfinkel-An, and E. LeGuern. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat, 27(4):389, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]

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