Variability of the recessive oculopharyngeal muscular dystrophy phenotype
暂无分享,去创建一个
[1] S. Zierz,et al. Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy , 2006, Journal of Neurology.
[2] G. van Ommen,et al. Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody. , 2006, Human molecular genetics.
[3] D. Robinson,et al. Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism , 2005, Human Genetics.
[4] B. Brais. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease , 2003, Cytogenetic and Genome Research.
[5] Mika Nakamoto,et al. Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. , 2002, Archives of neurology.
[6] W. Kress,et al. Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy , 2001, Neuropathology : official journal of the Japanese Society of Neuropathology.
[7] D. Robinson,et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. , 2001, Brain : a journal of neurology.
[8] S. Di Giovanni,et al. GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy , 2000, Neurology.
[9] S. Blumen,et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease , 1999, Annals of neurology.
[10] J. Rommens,et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy , 1998, Nature Genetics.
[11] J. Weissenbach,et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13 , 1995 .
[12] J. Weissenbach,et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. , 1995, Human molecular genetics.