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Publications of C. Depienne
Articles in journal or book chapters
  1. 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]


  2. 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]


  3. C. Depienne, D. Moreno-De-Luca, D. Heron, D. Bouteiller, A. Gennetier, R. Delorme, P. Chaste, J. P. Siffroi, S. Chantot-Bastaraud, B. Benyahia, O. Trouillard, G. Nygren, S. Kopp, M. Johansson, M. Rastam, L. Burglen, E. Leguern, A. Verloes, M. Leboyer, A. Brice, C. Gillberg, and C. Betancur. Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders. Biol Psychiatry, 66(4):349-359, 2009. Note: Journal article. [WWW]


  4. 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.


  5. 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.


  6. C. Goizet, A. Boukhris, E. Mundwiller, C. Tallaksen, S. Forlani, A. Toutain, N. Carriere, V. Paquis, C. Depienne, A. Durr, G. Stevanin, and A. Brice. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat, 30(2):E376-85, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Female, Gene Frequency, Humans, Kinesin/*genetics, Male, Middle Aged, Molecular Sequence Data, Mutation/genetics, Pedigree, Spastic Paraplegia, Hereditary/*genetics.


  7. E. Magnin, M. Vidailhet, C. Depienne, C. Saint-Martin, D. Bouteiller, E. Leguern, E. Apartis, L. Rumbach, and P. Labauge. Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family. Rev Neurol (Paris), 165(10):812-820, 2009. Note: Journal article. [WWW]


  8. R. Nabbout, C. Depienne, M. Chipaux, B. Girard, I. Souville, O. Trouillard, O. Dulac, J. Chelly, A. Afenjar, D. Heron, E. Leguern, C. Beldjord, T. Bienvenu, and N. Bahi-Buisson. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res, 87(1):25-30, 2009. Note: Journal article. [WWW]


  9. 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.


  10. K. Vahedi, C. Depienne, D. Le Fort, F. Riant, P. Chaine, O. Trouillard, A. Gaudric, M. A. Morris, E. Leguern, E. Tournier-Lasserve, and M. G. Bousser. Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology, 72(13):1178-83, 2009. Note: Case ReportsJournal ArticleReviewUnited States. [WWW] Keyword(s): Adolescent, Amaurosis Fugax/complications/*genetics, Amino Acid Sequence, Circadian Rhythm/*genetics, Female, Humans, Male, Migraine with Aura/complications/*genetics, Molecular Sequence Data, Mutation, Missense/*genetics, Nerve Tissue Proteins/*genetics, Pedigree, *Phenotype, Recurrence, Sequence Alignment, Sodium Channels/*genetics.


  11. S. Baulac, I. Gourfinkel-An, P. Couarch, C. Depienne, A. Kaminska, O. Dulac, M. Baulac, E. LeGuern, and R. Nabbout. A novel locus for generalized epilepsy with febrile seizures plus in French families. Arch Neurol, 65(7):943-51, 2008. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Child, Epilepsy, Generalized/complications/*genetics, Female, France, Genetic Markers, Haplotypes/genetics, Humans, Linkage (Genetics)/genetics, Lod Score, Male, Middle Aged, Pedigree, Quantitative Trait Loci/*genetics, Seizures, Febrile/complications/*genetics.


  12. 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]


  13. C. Goizet, A. Boukhris, E. Mundwiller, C. Tallaksen, S. Forlani, A. Toutain, N. Carriere, V. Paquis, C. Depienne, A. Durr, G. Stevanin, and A. Brice. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat, 2008. Note: Journal article. [WWW]


  14. R. Nabbout, I. Desguerre, S. Sabbagh, C. Depienne, P. Plouin, O. Dulac, and C. Chiron. An unexpected EEG course in Dravet syndrome. Epilepsy Res, 81(1):90-5, 2008. Note: Journal ArticleNetherlands. [WWW] Keyword(s): Adolescent, Age of Onset, Anticonvulsants/therapeutic use, Child, Cognition/physiology, Developmental Disabilities/complications, *Electroencephalography, Electromyography, Epilepsy, Tonic-Clonic/diagnosis/genetics/*physiopathology, Female, Fever/complications, Humans, Male, Mutation, Myoclonic Epilepsy, Juvenile/diagnosis/genetics/*physiopathology, Nerve Tissue Proteins/genetics, Sodium Channels/genetics, Syndrome.


  15. 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.


  16. C. Saint-Martin, D. Bouteiller, G. Stevanin, C. Popescu, C. Charon, M. Ruberg, S. Baulac, E. Leguern, P. Labauge, and C. Depienne. Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. Neurogenetics, 9(1):69-71, 2008. Note: Journal article. [WWW]


  17. 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]


  18. E. Chabrol, I. Gourfinkel-An, I. E. Scheffer, F. Picard, P. Couarch, S. F. Berkovic, J. M. McMahon, N. Bajaj, L. Mota-Vieira, R. Mota, O. Trouillard, C. Depienne, M. Baulac, E. Leguern, and S. Baulac. Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. Epilepsy Res, 76(1):41-8, 2007. Note: Journal ArticleNetherlands. [WWW]


  19. E. Chabrol, C. Popescu, I. Gourfinkel-An, O. Trouillard, C. Depienne, K. Senechal, M. Baulac, E. LeGuern, and S. Baulac. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Arch Neurol, 64(2):217-222, 2007. [WWW]


  20. A. Chojnowski, N. Ravise, C. Bachelin, C. Depienne, M. Ruberg, B. Brugg, J. Laporte, A. Baron-Van Evercooren, and E. LeGuern. Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. Neurobiol Dis, 26(2):323-31, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, Animals, Newborn, Apoptosis/drug effects/genetics, Caspases/metabolism, Cell Death/drug effects/genetics, Cell Proliferation, Cells, Cultured, Charcot-Marie-Tooth Disease/*genetics/metabolism/physiopathology, Culture Media, Serum-Free/pharmacology, Down-Regulation/drug effects/genetics, Gene Expression Profiling, Gene Expression Regulation, Developmental/genetics, *Gene Silencing, Myelin Sheath/*genetics/metabolism/pathology, Peripheral Nerves/*metabolism/pathology/physiopathology, Protein Tyrosine Phosphatases/*genetics, Protein Tyrosine Phosphatases, Non-Receptor, RNA Interference, Rats, Schwann Cells/*metabolism/pathology.


  21. 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]


  22. 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.


  23. C. Depienne, D. Heron, C. Betancur, B. Benyahia, O. Trouillard, D. Bouteiller, A. Verloes, E. LeGuern, M. Leboyer, and A. Brice. Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet, 44(7):452-8, 2007. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW]


  24. C. Depienne, G. Stevanin, A. Brice, and A. Durr. Hereditary spastic paraplegias: an update. Curr Opin Neurol, 20(6):674-80, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tReviewEngland. [WWW] Keyword(s): Adenosine Triphosphatases/genetics, DNA Mutational Analysis/methods, Diagnosis, Differential, Genetic Predisposition to Disease/*genetics, Genetic Screening/methods, Humans, Inheritance Patterns/genetics, Mutation/*genetics, Proteins/genetics, Spastic Paraplegia, Hereditary/*diagnosis/*genetics/physiopathology.


  25. M. Escobar-Khondiker, M. Hollerhage, M. P. Muriel, P. Champy, A. Bach, C. Depienne, G. Respondek, E. S. Yamada, A. Lannuzel, T. Yagi, E. C. Hirsch, W. H. Oertel, R. Jacob, P. P. Michel, M. Ruberg, and G. U. Hoglinger. Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neurons. J Neurosci, 27(29):7827-37, 2007. Note: Dk053244/dk/niddkNs048441/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited Statesthe official journal of the Society for Neuroscience. [WWW] Keyword(s): Adenosine Triphosphate/metabolism, Animals, Brain/cytology, Cell Death/drug effects, Cell Survival/drug effects, Cells, Cultured, Dose-Response Relationship, Drug, Embryo, Enzyme Inhibitors/*pharmacology, Female, Furans/*pharmacology, Lactones/*pharmacology, Microscopy, Immunoelectron/methods, Microtubule-Associated Proteins/metabolism, Neurons/*drug effects/metabolism/ultrastructure, Paclitaxel/pharmacology, Pregnancy, Rats, Rats, Wistar, Reactive Oxygen Species/metabolism, Tubulin Modulators/pharmacology, tau Proteins/*metabolism.


  26. E. Eugene, C. Depienne, S. Baulac, M. Baulac, J. M. Fritschy, E. Le Guern, R. Miles, and J. C. Poncer. GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition. J Neurosci, 27(51):14108-16, 2007. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited Statesthe official journal of the Society for Neuroscience. [WWW] Keyword(s): Animals, Cells, Cultured, Epilepsy/*genetics/*metabolism/physiopathology, Hippocampus/*metabolism/physiology, Humans, *Mutation, Neural Inhibition/*genetics, Protein Subunits/antagonists & inhibitors/*genetics/physiology, Rats, Rats, Sprague-Dawley, Receptors, GABA-A/antagonists & inhibitors/*genetics/physiology, Signal Transduction/genetics, Synaptic Transmission/*genetics, Syndrome.


  27. S. Hanein, A. Durr, P. Ribai, S. Forlani, A. L. Leutenegger, I. Nelson, M. C. Babron, N. Elleuch, C. Depienne, C. Charon, A. Brice, and G. Stevanin. A novel locus for autosomal dominant ``uncomplicated'' hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet, 122(3-4):261-73, 2007. Note: Journal article. [WWW]


  28. 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]


  29. S. Klebe, A. Lacour, A. Durr, T. Stojkovic, C. Depienne, S. Forlani, S. Poea-Guyon, I. Vuillaume, B. Sablonniere, P. Vermersch, A. Brice, and G. Stevanin. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics, 8(2):155-7, 2007. Note: Journal ArticleUnited States. [WWW]


  30. M. Namekawa, M. P. Muriel, A. Janer, M. Latouche, A. Dauphin, T. Debeir, E. Martin, C. Duyckaerts, A. Prigent, C. Depienne, A. Sittler, A. Brice, and M. Ruberg. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Mol Cell Neurosci, 35(1):1-13, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Cell Line, Cytoplasmic Vesicles/*enzymology/ultrastructure, Endoplasmic Reticulum/*enzymology/ultrastructure, Epitopes, GTP Phosphohydrolases/*genetics/*metabolism, Golgi Apparatus/*enzymology/ultrastructure, Humans, Kidney/cytology, Microscopy, Electron, Motor Cortex/cytology, Motor Neurons/*enzymology, Paraplegia/genetics/metabolism, Point Mutation, Protein Transport/physiology, Spinal Cord/cytology.


  31. 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.


  32. 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]


  33. C. Depienne, C. Tallaksen, J. Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, and A. Durr. Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515. Hum Genet, 118(6):785, 2006. Note: Journal ArticleGermany. [WWW] Keyword(s): Adenosine Triphosphatases/*genetics, Humans, Paraparesis, Spastic/*genetics, Point Mutation, RNA Splice Sites/genetics.


  34. C. Depienne, C. Tallaksen, J. Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, and A. Durr. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet, 43(3):259-65, 2006. Note: Comparative StudyLetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adenosine Triphosphatases/*genetics, Chromatography, High Pressure Liquid, DNA/genetics/isolation & purification, Diagnosis, Differential, Exons, Gene Frequency, Humans, *Mutation, Paraparesis, Spastic/*genetics, Paraplegia/*genetics.


  35. C. Depienne, O. Trouillard, R. Nabbout, I. Gourfinkel-An, A. Arzimanoglou, O. Dulac, M. Baulac, and E. Leguern. Mutation analysis of the SCN1A gene in 92 patients with severe myoclonic epilepsy of infancy. Epilepsia, 47:90-90, 2006. Note: Suppl. 3. [WWW]


  36. J. El Helou, V. Navarro, I. An, C. Depienne, E. Leguern, and C. Adam. Complex as a triggering factor for seizures in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Epilepsia, 47:108-108, 2006. Note: Suppl. 3. [WWW]


  37. N. Elleuch, C. Depienne, A. Benomar, A. M. Hernandez, X. Ferrer, B. Fontaine, D. Grid, C. M. Tallaksen, R. Zemmouri, G. Stevanin, A. Durr, and A. Brice. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology, 66(5):654-9, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Brain/pathology, DNA Mutational Analysis, Europe, Exons, Humans, Metalloendopeptidases/*genetics, *Mutation, Polymorphism, Genetic, Reverse Transcriptase Polymerase Chain Reaction, Spastic Paraplegia, Hereditary/*genetics/pathology, Variation (Genetics).


  38. M. Namekawa, P. Ribai, I. Nelson, S. Forlani, F. Fellmann, C. Goizet, C. Depienne, G. Stevanin, M. Ruberg, A. Durr, and A. Brice. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology, 66(1):112-4, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Brain/pathology/physiopathology, DNA Mutational Analysis, Family Health, GTP Phosphohydrolases/*genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Humans, Male, Middle Aged, Mutation/*genetics, Peripheral Nerves/pathology/physiopathology, Phenotype, Spastic Paraplegia, Hereditary/diagnosis/*genetics/physiopathology, Wallerian Degeneration/diagnosis/genetics.


  39. S. Mourlevat, T. Debeir, J. E. Ferrario, J. Delbe, D. Caruelle, O. Lejeune, C. Depienne, J. Courty, R. Raisman-Vozari, and M. Ruberg. Pleiotrophin mediates the neurotrophic effect of cyclic AMP on dopaminergic neurons: analysis of suppression-subtracted cDNA libraries and confirmation in vitro. Exp Neurol, 194(1):243-54, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, Carrier Proteins/*genetics/physiology, Cells, Cultured, Cyclic AMP/*metabolism, Cytokines/*genetics/physiology, Dopamine/metabolism, Drug Resistance/genetics, Enzyme Activation/physiology, Gene Expression Profiling, Gene Expression Regulation/physiology, Gene Library, Genetic Predisposition to Disease/genetics, Membrane Glycoproteins/genetics, Nerve Degeneration/*metabolism/pathology/physiopathology, Nerve Growth Factors/*metabolism, Nerve Tissue Proteins/genetics, Neurons/*metabolism/pathology, Oligonucleotide Array Sequence Analysis, Parkinsonian Disorders/metabolism/pathology/physiopathology, Peptide Hydrolases/metabolism, Protein-Tyrosine-Phosphatase/genetics, Proteoglycans/genetics, Rats, Substantia Nigra/*metabolism/pathology/physiopathology, Syndecan-3.


  40. 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.



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