1. P. Richard, K. Gaudon, H. Haddad, A. B. Ammar, E. Genin, S. Bauche, M. Paturneau-Jouas, J. S. Muller, H. Lochmuller, D. Grid, A. Hamri, S. Nouioua, M. Tazir, M. Mayer, C. Desnuelle, A. Barois, B. Chabrol, J. Pouget, J. Koenig, N. Gouider-Khouja, F. Hentati, B. Eymard, and D. Hantai. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology, 71(24):1967-72, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Africa, Northern/ethnology, Cholinesterase Inhibitors/pharmacology, DNA Mutational Analysis, Female, Founder Effect, Gene Frequency, Genetic Counseling/standards, Genetic Markers/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Haplotypes, Heterozygote, Humans, Male, Molecular Biology/standards, Mutation/*genetics, Myasthenic Syndromes, Congenital/ethnology/*genetics/physiopathology, Receptors, Nicotinic/*genetics.



2. L. Ishihara, L. Warren, R. Gibson, R. Amouri, S. Lesage, A. Durr, M. Tazir, Z. K. Wszolek, R. J. Uitti, W. C. Nichols, A. Griffith, N. Hattori, D. Leppert, R. Watts, C. P. Zabetian, T. M. Foroud, M. J. Farrer, A. Brice, L. Middleton, and F. Hentati. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol, 63(9):1250-4, 2006. Note: K08 ns 044138/ns/nindsNs 41723-01a1/ns/nindsP50 ns 40256-02/ns/nindsR01 ns 037167/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.United States. [WWW] Keyword(s): Aged, DNA Mutational Analysis/methods, *Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Glycine/*genetics, Humans, Male, Middle Aged, *Mutation, Parkinson Disease/epidemiology/*genetics, Protein-Serine-Threonine Kinases/*genetics, Serine/*genetics.



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.

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