1. A. Echaniz-Laguna, F. Rene, C. Marcel, M. Bangratz, B. Fontaine, J. P. Loeffler, and S. Nicole. Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin. Muscle Nerve, 40(1):55-61, 2009. Note: Journal article. [WWW]



2. M. Stum, E. Girard, M. Bangratz, V. Bernard, M. Herbin, A. Vignaud, A. Ferry, C. S. Davoine, A. Echaniz-Laguna, F. Rene, C. Marcel, J. Molgo, B. Fontaine, E. Krejci, and S. Nicole. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. Hum Mol Genet, 17(20):3166-79, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW]



3. M. Stum, C. S. Davoine, S. Vicart, L. Guillot-Noel, H. Topaloglu, F. J. Carod-Artal, H. Kayserili, F. Hentati, L. Merlini, J. A. Urtizberea, H. Hammouda el, P. C. Quan, B. Fontaine, and S. Nicole. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat, 27(11):1082-91, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Alternative Splicing/genetics, Base Sequence, Cells, Cultured, DNA Mutational Analysis, Female, Gene Expression, Genotype, Haplotypes, Heparan Sulfate Proteoglycans/*genetics/metabolism, Humans, Male, Models, Genetic, Mutant Proteins/metabolism, *Mutation, Osteochondrodysplasias/*genetics, Phenotype, Sequence Analysis, DNA.



4. M. Stum, C. S. Davoine, B. Fontaine, and S. Nicole. Schwartz-Jampel syndrome and perlecan deficiency. Acta Myol, 24(2):89-92, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tReviewItalymyopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. [WWW] Keyword(s): Animals, Basement Membrane/metabolism, Cartilage/metabolism, Disease Models, Animal, Fibroblasts/metabolism, Heparan Sulfate Proteoglycans/*deficiency/genetics/physiology, Humans, Mice, Mice, Knockout, Mutation, Missense, Osteochondrodysplasias/*genetics/metabolism/physiopathology.



5. N. Dagoneau, D. Scheffer, C. Huber, L. I. Al-Gazali, M. Di Rocco, A. Godard, J. Martinovic, A. Raas-Rothschild, S. Sigaudy, S. Unger, S. Nicole, B. Fontaine, J. L. Taupin, J. F. Moreau, A. Superti-Furga, M. Le Merrer, J. Bonaventure, A. Munnich, L. Legeai-Mallet, and V. Cormier-Daire. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet, 74(2):298-305, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Base Sequence, Child, Chromosomes, Human, Pair 5, DNA Primers, Humans, Immunohistochemistry, Leukemia Inhibitory Factor Receptor alpha Subunit, Linkage (Genetics), Molecular Sequence Data, *Mutation, Osteochondrodysplasias/*genetics, Receptors, Cytokine/*genetics, Receptors, OSM-LIF.



6. S. Nicole, B. Desforges, G. Millet, J. Lesbordes, C. Cifuentes-Diaz, D. Vertes, M. L. Cao, F. De Backer, L. Languille, N. Roblot, V. Joshi, J. M. Gillis, and J. Melki. Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle. J Cell Biol, 161(3):571-82, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, Animals, Newborn, Cell Death/genetics, Cell Differentiation/*genetics, Cell Division/genetics, Cells, Cultured, Cyclic AMP Response Element-Binding Protein, Disease Models, Animal, Female, Male, Mice, Mice, Mutant Strains, Movement Disorders/genetics/metabolism/pathology, Muscle Fibers/cytology/metabolism/pathology, Muscle Weakness/genetics/metabolism/pathology, Muscle, Skeletal/*growth & development/pathology/physiopathology, Muscular Atrophy, Spinal/*genetics/metabolism/therapy, Mutation/genetics, Necrosis, Nerve Tissue Proteins/*deficiency/genetics, Phenotype, RNA-Binding Proteins, Regeneration/*genetics, Satellite Cells, Skeletal Muscle/cytology/*metabolism, Stem Cells/cytology/metabolism.



7. S. Nicole, H. Topaloglu, and B. Fontaine. 102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands. Neuromuscul Disord, 13(4):347-51, 2003. Note: CongressesResearch Support, Non-U.S. Gov'tEnglandNmd. [WWW] Keyword(s): Humans, *Mutation, Osteochondrodysplasias/diagnosis/*genetics/*physiopathology.

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