Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
暂无分享,去创建一个
Len A. Pennacchio | Ralf Krahe | Silvana Franceschetti | Giuliano Avanzini | R. Myers | A. Chapelle | L. Pennacchio | G. Avanzini | R. Michelucci | C. Tassinari | S. Franceschetti | R. Krahe | K. Virtaneva | A. Lehesjoki | E. D'amato | Marjaleena Koskiniemi | Albert de la Chapelle | Richard M. Myers | Kimmo Virtaneva | J. Miao | M. Koskiniemi | R. Norio | S. Omer | J. Dieguez-Lucena | Roberto Michelucci | Anna-Elina Lehesjoki | Reijo Norio | Jinmin Miao | Elena D'Amato | Carlo A. Tassinari | Salah Omer | José L. Dieguez-Lucena | E. D'Amato | Salah Omer
[1] R. Myers,et al. Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q. , 1996, American journal of human genetics.
[2] Len A. Pennacchio,et al. Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1) , 1996, Science.
[3] P. Patel,et al. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion , 1996, Science.
[4] S. Warren,et al. The Expanding World of Trinucleotide Repeats , 1996, Science.
[5] V. Willour,et al. Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene. , 1996, Genome research.
[6] S. S. Smith,et al. Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[7] A. Marquis Gacy,et al. Trinucleotide repeats that expand in human disease form hairpin structures in vitro , 1995, Cell.
[8] M. Lathrop,et al. Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype. , 1995, Human molecular genetics.
[9] W. Rutter,et al. The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription , 1995, Nature Genetics.
[10] J. Todd,et al. Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus , 1995, Nature Genetics.
[11] S. Warren,et al. Trinucleotide repeat expansion and human disease. , 1995, Annual review of genetics.
[12] A. Jeffreys,et al. Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism , 1994, Nature Genetics.
[13] S. Warren,et al. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles , 1994, Cell.
[14] A. Jeffreys,et al. Complex gene conversion events in germline mutation at human minisatellites , 1994, Nature Genetics.
[15] K. Gabbay,et al. Localization of a Type I Diabetes Susceptibility Locus to the Variable Tandem Repeat Region Flanking the Insulin Gene , 1993, Diabetes.
[16] A. Chapelle,et al. Disease gene mapping in isolated human populations: the example of Finland. , 1993, Journal of medical genetics.
[17] E. Lander,et al. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. , 1993, Human molecular genetics.
[18] A. de la Chapelle,et al. Linkage studies in progressive myoclonus epilepsy , 1992, Neurology.
[19] Robert R. Sokal,et al. Genetic evidence for the spread of agriculture in Europe by demic diffusion , 1991, Nature.
[20] A. de la Chapelle,et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[21] Andermann. Classification of progressive myoclonus epilepsies and related disorders , 1990, Annals of neurology.
[22] F. Andermann,et al. Progressive myoclonus epilepsies: specific causes and diagnosis. , 1986, The New England journal of medicine.
[23] J. Karam,et al. A Polymorphic Locus Near the Human Insulin Gene Is Associated with Insulin-dependent Diabetes Melliitus , 1984, Diabetes.
[24] W. Rutter,et al. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences , 1982, Nature.
[25] M. Koskiniemi,et al. Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients , 1979, Clinical genetics.
[26] M. Koskiniemi,et al. PROGRESSIVE MYOCLONUS EPILEPSY , 1974 .
[27] M. Haltia,et al. PROGRESSIVE MYOCLONUS EPILEPSY , 1974 .