메뉴 건너뛰기




Volumn 51, Issue 3, 1998, Pages 708-714

Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; PHENYLALANINE; SERINE;

EID: 0344074661     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.3.708     Document Type: Article
Times cited : (100)

References (29)
  • 1
    • 0029562263 scopus 로고
    • Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (North of Portugal)
    • Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (North of Portugal). Am J Med Genet 1995;60:512-521.
    • (1995) Am J Med Genet , vol.60 , pp. 512-521
    • Sousa, A.1    Coelho, T.2    Barros, J.3    Sequeiros, J.4
  • 2
    • 0016913418 scopus 로고
    • Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden
    • Andersson R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand 1976;590(suppl):1-64.
    • (1976) Acta Med Scand , vol.590 , Issue.SUPPL. , pp. 1-64
    • Andersson, R.1
  • 3
    • 0021039138 scopus 로고
    • Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: I. The genealogical survey
    • Sakoda S, Suzuki T, Higa S, et al. Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: I. The genealogical survey. Clin Genet 1983;24:334-338.
    • (1983) Clin Genet , vol.24 , pp. 334-338
    • Sakoda, S.1    Suzuki, T.2    Higa, S.3
  • 4
    • 0024592382 scopus 로고
    • Molecular genetics of amyloid neuropathy in Europe
    • Holt IJ, Harding AE, Middleton L, et al. Molecular genetics of amyloid neuropathy in Europe. Lancet 1989;1:524-526.
    • (1989) Lancet , vol.1 , pp. 524-526
    • Holt, I.J.1    Harding, A.E.2    Middleton, L.3
  • 5
    • 0027275791 scopus 로고
    • Familial amyloidotic polyneuropathy in Sweden: Geographical distribution, age of onset, and prevalence
    • Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993; 43:288-294.
    • (1993) Hum Hered , vol.43 , pp. 288-294
    • Sousa, A.1    Andersson, R.2    Drugge, U.3    Holmgren, G.4    Sandgren, O.5
  • 6
    • 0021281978 scopus 로고
    • Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy. A clinicopathological study
    • Said G, Ropert A, Faux N. Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy. A clinicopathological study. Neurology 1984;34:1025-1032.
    • (1984) Neurology , vol.34 , pp. 1025-1032
    • Said, G.1    Ropert, A.2    Faux, N.3
  • 7
    • 0002470418 scopus 로고
    • Forty years of experience with type I amyloid polyneuropathy. Review of 483 cases
    • Glenner GG, Pinho P, Costa E, Falcao de Freitas A, eds. Amsterdam: Excerpta Medica
    • Coutinho P, Martins Da Silva A, Lopes Lima J, Resende Barbosa A. Forty years of experience with type I amyloid polyneuropathy. Review of 483 cases. In: Glenner GG, Pinho P, Costa E, Falcao de Freitas A, eds. Amyloid and amyloidosis. Amsterdam: Excerpta Medica, 1980:88-98.
    • (1980) Amyloid and Amyloidosis , pp. 88-98
    • Coutinho, P.1    Martins Da Silva, A.2    Lopes Lima, J.3    Resende Barbosa, A.4
  • 8
    • 0022245005 scopus 로고
    • Structure of the chromosomal gene for human serum prealbumin
    • Sasaki H, Yoshioka N, Takagi Y, Sakaki Y. Structure of the chromosomal gene for human serum prealbumin. Gene 1985; 37:191-197.
    • (1985) Gene , vol.37 , pp. 191-197
    • Sasaki, H.1    Yoshioka, N.2    Takagi, Y.3    Sakaki, Y.4
  • 9
    • 0028969996 scopus 로고
    • Transthyretin mutations in health and disease
    • Saraiva MJM. Transthyretin mutations in health and disease. Hum Mutat 1995;5:191-196.
    • (1995) Hum Mutat , vol.5 , pp. 191-196
    • Saraiva, M.J.M.1
  • 10
    • 0030075631 scopus 로고    scopus 로고
    • Leptomeningeal amyloid and variant transthyretins
    • Benson MD. Leptomeningeal amyloid and variant transthyretins. Am J Pathol 1996;148:351-354.
    • (1996) Am J Pathol , vol.148 , pp. 351-354
    • Benson, M.D.1
  • 11
    • 0025223026 scopus 로고
    • Diagnosis of familial amyloidotic polyneuropathy in France
    • Satier F, Nichols WC, Benson MD. Diagnosis of familial amyloidotic polyneuropathy in France. Clin Genet 1990;38:469-473.
    • (1990) Clin Genet , vol.38 , pp. 469-473
    • Satier, F.1    Nichols, W.C.2    Benson, M.D.3
  • 12
    • 0027405127 scopus 로고
    • A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family
    • Benson MD, Turpin JC, Lucotte G, Zeldenrust S, LeChevalier B, Benson MD. A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet 1993;30:120-122.
    • (1993) J Med Genet , vol.30 , pp. 120-122
    • Benson, M.D.1    Turpin, J.C.2    Lucotte, G.3    Zeldenrust, S.4    LeChevalier, B.5    Benson, M.D.6
  • 13
    • 0027405127 scopus 로고
    • A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family
    • Benson MD, Julien J, Liepnieks J, Zeldenrust S, Benson MD. A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet 1993;30:117-119.
    • (1993) J Med Genet , vol.30 , pp. 117-119
    • Benson, M.D.1    Julien, J.2    Liepnieks, J.3    Zeldenrust, S.4    Benson, M.D.5
  • 14
    • 0029095429 scopus 로고
    • Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy
    • Reilly MM, Adams D, Booth DR, et al. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 1995;118:849-856.
    • (1995) Brain , vol.118 , pp. 849-856
    • Reilly, M.M.1    Adams, D.2    Booth, D.R.3
  • 15
    • 0032222934 scopus 로고    scopus 로고
    • New transthyretin Ser 116 and Ser 91 variants associated with familial amyloidotic polyneuropathy
    • Misrahi M, Planté-Bordeneuve V, Lalu T, et al. New transthyretin Ser 116 and Ser 91 variants associated with familial amyloidotic polyneuropathy. Hum Mutat 1998;12:71.
    • (1998) Hum Mutat , vol.12 , pp. 71
    • Misrahi, M.1    Planté-Bordeneuve, V.2    Lalu, T.3
  • 16
    • 0024538761 scopus 로고
    • Haplotype analysis of familial amyloid polyneuropathy. Evidence for multiple origins of the Val→Met 30 mutation most common to the disease
    • Yoshioka K, Furuya H, Sasaki H, Saraiva MJM, Costa PP, Sakaki Y. Haplotype analysis of familial amyloid polyneuropathy. Evidence for multiple origins of the Val→Met 30 mutation most common to the disease. Hum Genet 1989;82:9-13.
    • (1989) Hum Genet , vol.82 , pp. 9-13
    • Yoshioka, K.1    Furuya, H.2    Sasaki, H.3    Saraiva, M.J.M.4    Costa, P.P.5    Sakaki, Y.6
  • 17
    • 0028894911 scopus 로고
    • Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (Met 30 and Tyr 77)
    • Reilly MM, Adams D, Davis MB, Said G, Harding AE. Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (Met 30 and Tyr 77). J Neurol 1995;242:664-668.
    • (1995) J Neurol , vol.242 , pp. 664-668
    • Reilly, M.M.1    Adams, D.2    Davis, M.B.3    Said, G.4    Harding, A.E.5
  • 18
    • 0345295800 scopus 로고    scopus 로고
    • Evaluation of liver transplantation in a cohort of 29 patients with familial amyloid polyneuropathy
    • Adams D, Samuel D, Goulon-Goeau C, et al. Evaluation of liver transplantation in a cohort of 29 patients with familial amyloid polyneuropathy. Neurology 1997;48(suppl 2):A88.
    • (1997) Neurology , vol.48 , Issue.2 SUPPL.
    • Adams, D.1    Samuel, D.2    Goulon-Goeau, C.3
  • 19
    • 0029072798 scopus 로고
    • Familial amyloid polyneuropathy (TTR Ala 60) in northwest Ireland: A clinical, genetic, and epidemiological study
    • Reilly MM, Staunton H, Harding AE. Familial amyloid polyneuropathy (TTR Ala 60) in northwest Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry 1995;59:45-49.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 45-49
    • Reilly, M.M.1    Staunton, H.2    Harding, A.E.3
  • 20
    • 0345082783 scopus 로고
    • Clinical characterization of a new TTR variant in an Italian family: TTR Ala 49
    • Natvig J, Forre O, Husby G, et al, eds. Dordrecht: Kluwer Academic Publishers
    • Salvi F, Plasmati R, Michelucci R, et al. Clinical characterization of a new TTR variant in an Italian family: TTR Ala 49. In: Natvig J, Forre O, Husby G, et al, eds. Amyloid and amyloidosis. Dordrecht: Kluwer Academic Publishers, 1991:603-606.
    • (1991) Amyloid and Amyloidosis , pp. 603-606
    • Salvi, F.1    Plasmati, R.2    Michelucci, R.3
  • 21
    • 0023947016 scopus 로고
    • Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNa analysis
    • Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD. Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest 1988;81:189-193.
    • (1988) J Clin Invest , vol.81 , pp. 189-193
    • Wallace, M.R.1    Dwulet, F.E.2    Williams, E.C.3    Conneally, P.M.4    Benson, M.D.5
  • 22
    • 0028340455 scopus 로고
    • Transthyretin Val 107, a new variant associated with familial cardiac and neuropathic amyloidosis
    • Jacobson DR, Gertz MA, Buxbaum JN. Transthyretin Val 107, a new variant associated with familial cardiac and neuropathic amyloidosis. Hum Mutat 1994;3:399-401.
    • (1994) Hum Mutat , vol.3 , pp. 399-401
    • Jacobson, D.R.1    Gertz, M.A.2    Buxbaum, J.N.3
  • 23
    • 0029116835 scopus 로고
    • Haplotype analysis of common transthyretin mutations
    • Almeida MR, Aoyama-Oishi N, Sakaki Y, et al. Haplotype analysis of common transthyretin mutations. Hum Genet 1995;96:350-354.
    • (1995) Hum Genet , vol.96 , pp. 350-354
    • Almeida, M.R.1    Aoyama-Oishi, N.2    Sakaki, Y.3
  • 24
    • 0025853313 scopus 로고
    • An inherited non-amyloidogenic transthyretin variant, [Ser 6]-TTR, with increased thyroxin-binding affinity, characterized by DNA sequencing
    • Fitch NJS, Akbari MT, Ramsden DB. An inherited non-amyloidogenic transthyretin variant, [Ser 6]-TTR, with increased thyroxin-binding affinity, characterized by DNA sequencing. J Endocrinol 1991;129:309-313.
    • (1991) J Endocrinol , vol.129 , pp. 309-313
    • Fitch, N.J.S.1    Akbari, M.T.2    Ramsden, D.B.3
  • 26
    • 0024589746 scopus 로고
    • Genetic and clinical studies of Japanese patients with familial amyloid polyneuropathy
    • Harada T, Kito S, Shimoyama M, et al. Genetic and clinical studies of Japanese patients with familial amyloid polyneuropathy. Eur Neurol 1989;29:48-52.
    • (1989) Eur Neurol , vol.29 , pp. 48-52
    • Harada, T.1    Kito, S.2    Shimoyama, M.3
  • 27
    • 0027721944 scopus 로고
    • Low diagnostic yield of sural nerve biopsy in patients with peripheral neuropathy and primary amyloidosis
    • Simmons Z, Blaivas M, Aguilera AJ, Feldman EL, Bromberg MB, Towfighi J. Low diagnostic yield of sural nerve biopsy in patients with peripheral neuropathy and primary amyloidosis. J Neurol Sci 1993;120:60-63.
    • (1993) J Neurol Sci , vol.120 , pp. 60-63
    • Simmons, Z.1    Blaivas, M.2    Aguilera, A.J.3    Feldman, E.L.4    Bromberg, M.B.5    Towfighi, J.6
  • 28
    • 0031055128 scopus 로고    scopus 로고
    • Transthyretin amyloidosis: A new mutation associated with dementia
    • Petersen RB, Goren H, Cohen M, et al. Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol 1997;41:307-313.
    • (1997) Ann Neurol , vol.41 , pp. 307-313
    • Petersen, R.B.1    Goren, H.2    Cohen, M.3
  • 29
    • 0029859731 scopus 로고    scopus 로고
    • Familial amyloid polyneuropathy: New developments in genetics and treatment
    • Coelho T. Familial amyloid polyneuropathy: new developments in genetics and treatment. Curr Opin Neurol 1996;9: 355-359.
    • (1996) Curr Opin Neurol , vol.9 , pp. 355-359
    • Coelho, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.