References
- Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011;10:1086–1097.
- Ikeda S. Transthyretin Val30Met familial amyloid polyneuropathy: a considerably different clinical picture and natural course in endemic and non-endemic areas. J Neurol Neurosurg Psychiatr 2012;83:121.
- Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002;58:1001–1007.
- Soares ML, Coelho T, Sousa A, Holmgren G, Saraiva MJ, Kastner DL, Buxbaum JN. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur J Hum Genet 2004;12:225–237.
- Olsson M, Norgren N, Obayashi K, Plante-Bordeneuve V, Suhr OB, Cederquist K, Jonasson J. A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers. BMC Med Genet 2010;11:130.
- Soares ML, Coelho T, Sousa A, Batalov S, Conceição I, Sales-Luís ML, Ritchie MD, et al. Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. Hum Mol Genet 2005;14:543–553.
- Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S. Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Commun 1990;169:1117–1121.
- Takahashi N, Ueno S, Uemichi T, Fujimura H, Yorifuji S, Tarui S. Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. J Neurol Sci 1992;112:58–64.
- Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, et al. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 1995;118 (Pt 4):849–856.
- Singer R, Schnabel A, Strasser RH. Images in cardiovascular medicine. Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. Circulation 2003;107:643–644.
- Munar-Qués M, Masjuan J, Coelho T, Moreira P, Viader-Farré C, Saraiva MJ. Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene. Amyloid 2007;14:147–152.
- Rapezzi C, Riva L, Quarta CC, Perugini E, Salvi F, Longhi S, Ciliberti P, et al. Gender-related risk of myocardial involvement in systemic amyloidosis. Amyloid 2008;15:40–48.
- Planté-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, Said G. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 1998;51:708–714.
- Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995;60:512–521.
- Soares M, Buxbaum J, Sirugo G, Coelho T, Sousa A, Kastner D, Saraiva MJ. Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions. Hum Genet 1999;104:480–485.
- Hörnsten R, Pennlert J, Wiklund U, Lindqvist P, Jensen SM, Suhr OB. Heart complications in familial transthyretin amyloidosis: impact of age and gender. Amyloid 2010;17:63–68.
- Planté-Bordeneuve V, Carayol J, Ferreira A, Adams D, Clerget-Darpoux F, Misrahi M, Said G, Bonaïti-Pellié C. Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 2003;40:e120.
- Hellman U, Alarcon F, Lundgren HE, Suhr OB, Bonaiti-Pellié C, Planté-Bordeneuve V. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 2008;15:181–186.