Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population
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Yun Yuan | P. Lin | Chuanzhu Yan | Bin Chen | Duo-ling Li | K. Ji | Jinfan Zheng | Jingli Shan | Yuebei Luo
[1] J. Gámez,et al. Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy , 2012, Journal of Neurology.
[2] Juan Ye,et al. A GCG expansion (GCG)11 in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family , 2011, Molecular vision.
[3] T. Tao,et al. Gene diagnosis of Oculopharyngeal muscular dystrophy in a Chinese family by a genescan method , 2010, Journal of clinical laboratory analysis.
[4] S. Lai,et al. Oculopharyngeal muscular dystrophy--a genetically verified taiwanese family. , 2010, Chang Gung medical journal.
[5] C. Liou,et al. Study of a Taiwanese family with oculopharyngeal muscular dystrophy , 2009, Journal of the Neurological Sciences.
[6] B. Brais. Oculopharyngeal muscular dystrophy: A polyalanine myopathy , 2009, Current neurology and neuroscience reports.
[7] S. Zierz,et al. Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy , 2006, Journal of Neurology.
[8] A. Wills,et al. Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation , 2005, Journal of Medical Genetics.
[9] L. Kappos,et al. Oculopharyngeal muscular dystrophy - an under-diagnosed disorder? , 2005, Swiss medical weekly.
[10] I. Nonaka,et al. Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman , 2005, Neuromuscular Disorders.
[11] Chen Shu-la. Pathological and molecular genetic studies on oculopharyngeal muscular dystrophy , 2005 .
[12] David W. Kim,et al. Upper blepharoplasty in the Asian eyelid. , 2005, Facial plastic surgery clinics of North America.
[13] 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.
[14] M. Fardeau,et al. Nuclear inclusion in oculopharyngeal dystrophy , 2004, Acta Neuropathologica.
[15] 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.
[16] D. Robinson,et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. , 2001, Brain : a journal of neurology.
[17] M. Kase,et al. Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)11 in PABP2 gene , 2000, Neuromuscular Disorders.
[18] S. Di Giovanni,et al. GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy , 2000, Neurology.
[19] B. Brais,et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy , 1998, Nature Genetics.
[20] M. Uchino,et al. Oculopharyngeal muscular dystrophy in Japan , 1997, Neuromuscular Disorders.
[21] M. Uchino,et al. Oculopharyngeal muscular dystrophy in two unrelated Japanese families , 1996, Neurology.
[22] S. Chew,et al. Oculopharyngeal muscular dystrophy: a case report and a review of literature. , 1992, Annals of the Academy of Medicine, Singapore.
[23] W. Hsu,et al. Oriental eyelids. Anatomic difference and surgical consideration. , 1986, Ophthalmic plastic and reconstructive surgery.
[24] M. Fardeau,et al. Nuclear inclusions in oculopharyngeal dystrophy. , 1980, Acta neuropathologica.