Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation
暂无分享,去创建一个
[1] Yan Zhao,et al. [Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis]. , 2012, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.
[2] Hao Wang,et al. Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg , 2012, Ophthalmic genetics.
[3] V. Planté-Bordeneuve,et al. Familial amyloid polyneuropathy , 2019, Journal of the Neurological Sciences.
[4] I. Beirão,et al. RECURRENCE OF VITREOUS AMYLOIDOSIS AND NEED OF SURGICAL REINTERVENTION IN PORTUGUESE PATIENTS WITH FAMILIAL AMYLOIDOSIS ATTR V30M , 2011, Retina.
[5] Lijun Sun,et al. A new Arg54Gly transthyretin gene mutation associated with vitreous amyloidosis in Chinese. , 2011, Eye science.
[6] Yulei Deng,et al. Transthyretin-Related Hereditary Amyloidosis in a Chinese Family with TTR Y114C Mutation , 2010, Neurodegenerative Diseases.
[7] Y. Ando,et al. Novel therapy for transthyretin-related ocular amyloidosis: a pilot study of retinal laser photocoagulation. , 2010, Ophthalmology.
[8] Yan-feng Li,et al. Clinical and genetic analysis of three families with familiar amyloid polyneuropathy. , 2008, Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih.
[9] Yi-Chung Lee,et al. Transthyretin Ala97Ser in Chinese–Taiwanese patients with familial amyloid polyneuropathy: Genetic studies and phenotype expression , 2008, Journal of the Neurological Sciences.
[10] Yong-hao Li,et al. [Transthyretin Arg-83 mutation in vitreous amyloidosis]. , 2008, Yan ke xue bao = Eye science.
[11] Needle-shaped deposits on retinal surface in a case of ocular amyloidosis. , 2008, European journal of ophthalmology.
[12] M. Benson,et al. The molecular biology and clinical features of amyloid neuropathy , 2007, Muscle & nerve.
[13] M. Skinner,et al. Recent Novel and Rare Mutations in a Clinic Population of Patients with Amyloidosis , 2007 .
[14] S. Tam,et al. Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese , 2007, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.
[15] E. Pica,et al. A novel transthyretin mutation V32A in a Chinese man with late‐onset amyloid polyneuropathy , 2005, Muscle & nerve.
[16] Masaaki Nakamura,et al. Transthyretin-related familial amyloidotic polyneuropathy. , 2005, Archives of neurology.
[17] C. Lam,et al. Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred , 2003, Acta neurologica Scandinavica.
[18] A. Negi,et al. Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy. , 2003, American journal of ophthalmology.
[19] S. Graham,et al. Familial amyloidotic polyneuropathy presenting with rubeotic glaucoma , 2002, Clinical & experimental ophthalmology.
[20] G. Sobue,et al. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. , 2002, Neurology.
[21] R. Falk,et al. Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis , 2002, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.
[22] A. Vingrys,et al. Retinal anatomy and function of the transthyretin null mouse. , 2001, Experimental eye research.
[23] D. Booth,et al. Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese‐Taiwanese family , 2000, Human mutation.
[24] D. Chang,et al. Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis , 1997, Journal of internal medicine.
[25] C. Blake,et al. The structure of amyloid fibrils by electron microscopy and X-ray diffraction. , 1997, Advances in protein chemistry.
[26] O. Sandgren. Ocular Amyloidosis, With Special Reference to the Hereditary Forms With Vitreous Involvement , 1996 .
[27] W. Blaner,et al. Studies on the metabolism of retinol and retinol-binding protein in transthyretin-deficient mice produced by homologous recombination. , 1995, The Journal of biological chemistry.
[28] E. Schon,et al. Distribution of transthyretin in the rat eye. , 1990, Investigative ophthalmology & visual science.
[29] J. Clarkson,et al. Pars plana vitrectomy for vitreous amyloidosis. , 1987, Ophthalmology.
[30] M. Saraiva,et al. Family Studies of the Genetic Abnormality in Transthyretin (Prealbumin) in Portuguese Patients with Familial Amyloidotic Poly neuropathy a , 1984, Annals of the New York Academy of Sciences.
[31] B. Streeten,et al. Amyloidosis of the vitreous. Fluorescein angiographic findings and association with neovascularization. , 1982, Archives of ophthalmology.
[32] P. Costa,et al. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. , 1978, Proceedings of the National Academy of Sciences of the United States of America.
[33] D. Goodman,et al. The interaction of thyroxine with human plasma prealbumin and with the prealbumin-retinol-binding protein complex. , 1969, The Journal of biological chemistry.