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Publications of C. Cazeneuve
Articles in journal or book chapters
  1. S. Lesage, E. Patin, C. Condroyer, A. L. Leutenegger, E. Lohmann, N. Giladi, A. Bar-Shira, S. Belarbi, N. Hecham, P. Pollak, A. M. Ouvrard-Hernandez, S. Bardien, J. Carr, T. Benhassine, H. Tomiyama, C. Pirkevi, T. Hamadouche, C. Cazeneuve, A. N. Basak, N. Hattori, A. Durr, M. Tazir, A. Orr-Urtreger, L. Quintana-Murci, and A. Brice. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Hum Mol Genet, 2010. Note: For the French Parkinson's Disease Genetics Study GroupJournal article. [WWW]


  2. C. Cazeneuve, C. San, S. A. Ibrahim, M. M. Mukhtar, M. M. Kheir, E. Leguern, A. Brice, and M. A. Salih. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics, 2009. Note: Journal article. [WWW]


  3. F. Clot, D. Grabli, C. Cazeneuve, E. Roze, P. Castelnau, B. Chabrol, P. Landrieu, K. Nguyen, G. Ponsot, M. Abada, D. Doummar, P. Damier, R. Gil, S. Thobois, A. J. Ward, M. Hutchinson, A. Toutain, F. Picard, A. Camuzat, E. Fedirko, C. San, D. Bouteiller, E. LeGuern, A. Durr, M. Vidailhet, and A. Brice. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain, 132(Pt 7):1753-63, 2009. Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]


  4. C. Depienne, D. Bouteiller, B. Keren, E. Cheuret, K. Poirier, O. Trouillard, B. Benyahia, C. Quelin, W. Carpentier, S. Julia, A. Afenjar, A. Gautier, F. Rivier, S. Meyer, P. Berquin, M. Helias, I. Py, S. Rivera, N. Bahi-Buisson, I. Gourfinkel-An, C. Cazeneuve, M. Ruberg, A. Brice, R. Nabbout, and E. Leguern. Erratum. PLoS Genet, 5(4), 2009. Note: Journal ArticleUnited States. [WWW]


  5. C. Depienne, D. Bouteiller, B. Keren, E. Cheuret, K. Poirier, O. Trouillard, B. Benyahia, C. Quelin, W. Carpentier, S. Julia, A. Afenjar, A. Gautier, F. Rivier, S. Meyer, P. Berquin, M. Helias, I. Py, S. Rivera, N. Bahi-Buisson, I. Gourfinkel-An, C. Cazeneuve, M. Ruberg, A. Brice, R. Nabbout, and E. Leguern. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet, 5(2):e1000381, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  6. C. Depienne, O. Trouillard, C. Saint-Martin, I. Gourfinkel-An, D. Bouteiller, W. Carpentier, B. Keren, B. Abert, A. Gautier, S. Baulac, A. Arzimanoglou, C. Cazeneuve, R. Nabbout, and E. LeGuern. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet, 46(3):183-91, 2009. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Epilepsies, Myoclonic/*genetics, Female, Gene Deletion, Gene Rearrangement, Humans, Infant, Infant, Newborn, Male, *Mutation, Nerve Tissue Proteins/*genetics, Nucleic Acid Amplification Techniques, Sequence Analysis, DNA, Sodium Channels/*genetics.


  7. C. Depienne, O. Trouillard, C. Saint-Martin, I. Gourfinkel-An, D. Bouteiller, W. Carpentier, B. Keren, B. Abert, A. Gautier, S. Baulac, A. Arzimanoglou, C. Cazeneuve, R. Nabbout, and E. LeGuern. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet, 46(3):183-91, 2009. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Epilepsies, Myoclonic/*genetics, Female, Gene Deletion, Gene Rearrangement, Humans, Infant, Infant, Newborn, Male, *Mutation, Nerve Tissue Proteins/*genetics, Nucleic Acid Amplification Techniques, Sequence Analysis, DNA, Sodium Channels/*genetics.


  8. C. M. Dhaenens, S. Burnouf, C. Simonin, E. Van Brussel, A. Duhamel, L. Defebvre, C. Duru, I. Vuillaume, C. Cazeneuve, P. Charles, P. Maison, S. Debruxelles, C. Verny, H. Gervais, J. P. Azulay, C. Tranchant, A. C. Bachoud-Levi, A. Durr, L. Buee, P. Krystkowiak, B. Sablonniere, and D. Blum. A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease. Neurobiol Dis, 35(3):474-6, 2009. Note: Huntington French Speaking NetworkJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  9. D. Seilhean, C. Cazeneuve, V. Thuries, O. Russaouen, S. Millecamps, F. Salachas, V. Meininger, E. Leguern, and C. Duyckaerts. Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation. Acta Neuropathol, 118(4):561-573, 2009. Note: Journal article. [WWW]


  10. 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.



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