-
1
-
-
77957180065
-
A peculiar form of peripheral neuropathy. Familiar atypical generalized amyloidosis with special involvement of peripheral nerves
-
Andrade C. A peculiar form of peripheral neuropathy. Familiar atypical generalized amyloidosis with special involvement of peripheral nerves. Brain 1952;75:408-427.
-
(1952)
Brain
, vol.75
, pp. 408-427
-
-
Andrade, C.1
-
2
-
-
0242407579
-
Tabulation of human transthyretin (TrR) variants
-
Connors LH, Lim A, M, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TrR) variants. Amyloid: J Protein Folding Disord 2003;10:160-184.
-
(2003)
Amyloid: J Protein Folding Disord
, vol.10
, pp. 160-184
-
-
Connors, L.H.1
Lim, A.M.2
Prokaeva, T.3
Roskens, V.A.4
Costello, C.E.5
-
4
-
-
21244504431
-
Polineuropatia amiloidótica familiar
-
Costa PP. Polineuropatia amiloidótica familiar. Boletim do Hospital (HGSA) 1976;1:71-75.
-
(1976)
Boletim Do Hospital (HGSA)
, vol.1
, pp. 71-75
-
-
Costa, P.P.1
-
5
-
-
85031297136
-
Alba del Reino de Mallorca
-
Mascaró Pasarius J, editor. Palma de Mallorca: Gráficas Miramar
-
Santamaría Arández A. Alba del Reino de Mallorca. In: Mascaró Pasarius J, editor. Historia de Mallorca Tomo III. Palma de Mallorca: Gráficas Miramar; 1970. pp 1-84.
-
(1970)
Historia de Mallorca Tomo III
, pp. 1-84
-
-
Santamaría Arández, A.1
-
7
-
-
0024538761
-
Haplotype analysis of familial amyloidotic polyneuropathy. Evidence of multiple origins of the Val-Met mutation most common to the disease
-
Yoshioka K, Furuya H, Sasaki H, Saraiva MJM, Costa PP, Sakaki Y. Haplotype analysis of familial amyloidotic polyneuropathy. Evidence of multiple origins of the Val-Met mutation most common to the disease. Human Genetics 1989;82:9-13.
-
(1989)
Human Genetics
, 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
-
8
-
-
0029116835
-
Haplotype analysis of common transthyretin mutations
-
Almeida MR, Aoyama-Oishi N, Sakaki Y, Holmgren G, Ulf D, Ferlini A, Salvi F, Munar-Qués M, Benson MD, Skinner M, Costa PP, Saraiva MJ. 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
Holmgren, G.4
Ulf, D.5
Ferlini, A.6
Salvi, F.7
Munar-Qués, M.8
Benson, M.D.9
Skinner, M.10
Costa, P.P.11
Saraiva, M.J.12
-
9
-
-
0024392663
-
Simplified method for screening populations at risk for transthyretin Met30-associated familial amyloidotic polyneuropathy
-
Saraiva MJM, Alves IL, Costa PP. Simplified method for screening populations at risk for transthyretin Met30-associated familial amyloidotic polyneuropathy. Clin Chem 1989;35:1033-1035.
-
(1989)
Clin Chem
, vol.35
, pp. 1033-1035
-
-
Saraiva, M.J.M.1
Alves, I.L.2
Costa, P.P.3
-
11
-
-
0009590411
-
The Majorcan focus of familial amyloidotic polyneuropathy type I
-
Munar-Qués M, Costa PP, Saraiva MJM. The Majorcan focus of familial amyloidotic polyneuropathy type I. Arquivos de Medicina 1990;3 (Suppl):13-18.
-
(1990)
Arquivos de Medicina
, vol.3
, Issue.SUPPL.
, pp. 13-18
-
-
Munar-Qués, M.1
Costa, P.P.2
Saraiva, M.J.M.3
-
12
-
-
0000859840
-
Familial amyloidotic polyneuropathy TTR Met 30 in Majorca (Spain)
-
Munar-Qués M, Costa PP, Saraiva MJM, Viader-Farré C, Munar-Bernat C, Cifuentes-Luna C, Forteza-Alberti JF. Familial amyloidotic polyneuropathy TTR Met 30 in Majorca (Spain). Amyloid: Int J Exp Clin Invest 1997;4:181-186.
-
(1997)
Amyloid: Int J Exp Clin Invest
, vol.4
, pp. 181-186
-
-
Munar-Qués, M.1
Costa, P.P.2
Saraiva, M.J.M.3
Viader-Farré, C.4
Munar-Bernat, C.5
Cifuentes-Luna, C.6
Forteza-Alberti, J.F.7
-
13
-
-
1542547897
-
Aspectos clínicos da polineuropatia amiloidótica familiar (tipo Andrade)
-
Falcao de Freitas A. Aspectos clínicos da polineuropatia amiloidótica familiar (tipo Andrade). Boletim do Hospital (HGSA) 1976;1:17-25.
-
(1976)
Boletim Do Hospital (HGSA)
, vol.1
, pp. 17-25
-
-
De Falcao Freitas, A.1
-
14
-
-
0345245158
-
Clinical evaluation of late onset cases in type I (Andrade) amyloid polyneuropathy
-
Glenner GG, Costa PP, Falcao de Freitas A, editors. Oxford: Excerpta Medica
-
Bastos Lima A, Martins da Silva A. Clinical evaluation of late onset cases in type I (Andrade) amyloid polyneuropathy. In: Glenner GG, Costa PP, Falcao de Freitas A, editors. Amyloid and amyloidosis. Oxford: Excerpta Medica; 1980. pp 99-105.
-
(1980)
Amyloid and Amyloidosis
, pp. 99-105
-
-
Bastos Lima, A.1
Martins Da Silva, A.2
-
15
-
-
0023002761
-
Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy
-
Saraiva MJM, Costa PP, Goodman DS. Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy. Neurology 1986;36:1413-1417.
-
(1986)
Neurology
, vol.36
, pp. 1413-1417
-
-
Saraiva, M.J.M.1
Costa, P.P.2
Goodman, D.S.3
-
16
-
-
33745430573
-
Late-onset forms of Familial Amyloid Polyneuropathy (Portuguese type): A reappraisal
-
Tsobe T, Araki S, Uchino F, Kito S, Tsubura E, editors. New York and London: Plenum Press
-
Ribeiro I, Coutinho P. Late-onset forms of Familial Amyloid Polyneuropathy (Portuguese type): a reappraisal. In: Tsobe T, Araki S, Uchino F, Kito S, Tsubura E, editors. Amyloid and amyloidosis. New York and London: Plenum Press; 1988. pp 435-439.
-
(1988)
Amyloid and Amyloidosis
, pp. 435-439
-
-
Ribeiro, I.1
Coutinho, P.2
-
17
-
-
0028281999
-
A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected
-
Coelho T, Sousa A, Lourenço E, Ramalheira J. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J Med Genet 1994;31:293-299.
-
(1994)
J Med Genet
, vol.31
, pp. 293-299
-
-
Coelho, T.1
Sousa, A.2
Lourenço, E.3
Ramalheira, J.4
-
18
-
-
0023091943
-
Hereditary generalized amyloidosis with polineuropathy. Clinicopathological study of 65 Japanese patients
-
Ikeda S, Hanyu N, Hongo M, Yoshioka J, Oguchi M, Yanagisawa N, Kobayashi T, Tsukagoshi H, Ito N, Yokota T. Hereditary generalized amyloidosis with polineuropathy. Clinicopathological study of 65 Japanese patients. Brain 1987;110:315-337.
-
(1987)
Brain
, vol.110
, pp. 315-337
-
-
Ikeda, S.1
Hanyu, N.2
Hongo, M.3
Yoshioka, J.4
Oguchi, M.5
Yanagisawa, N.6
Kobayashi, T.7
Tsukagoshi, H.8
Ito, N.9
Yokota, T.10
-
19
-
-
0032863087
-
Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features
-
Misu K, Hattori N, Nagamatsu M, Ikeda S, Ando Y, Nakazato M, Takei Y, Hanyu N, Usui Y, Tanaka F, Harada T, Inukai A, Hashizume Y, Sobue G. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 1999;122:1951-1962.
-
(1999)
Brain
, vol.122
, pp. 1951-1962
-
-
Misu, K.1
Hattori, N.2
Nagamatsu, M.3
Ikeda, S.4
Ando, Y.5
Nakazato, M.6
Takei, Y.7
Hanyu, N.8
Usui, Y.9
Tanaka, F.10
Harada, T.11
Inukai, A.12
Hashizume, Y.13
Sobue, G.14
-
20
-
-
0037046222
-
Familial transthyretin-type amyloid polyneuropathy. Clinical and genetic heterogeneity
-
Ikeda S, Nakazato M, Ando, Sobue G. Familial transthyretin-type amyloid polyneuropathy. Clinical and genetic heterogeneity. Neurology 2002;58:1001-1007.
-
(2002)
Neurology
, vol.58
, pp. 1001-1007
-
-
Ikeda, S.1
Nakazato, M.2
Ando3
Sobue, G.4
-
21
-
-
0032803525
-
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30
-
Munar-Qués M, Pedrosa JL, Coelho T, Gusmao L, Seruca R, Amorim A, Sequeiros J. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. J Med Genet 1999;36:629-632.
-
(1999)
J Med Genet
, vol.36
, pp. 629-632
-
-
Munar-Qués, M.1
Pedrosa, J.L.2
Coelho, T.3
Gusmao, L.4
Seruca, R.5
Amorim, A.6
Sequeiros, J.7
-
22
-
-
0002184993
-
Anticipation of age-of-onset in familial amyloidotic polineuropathy (Portuguese type)
-
Natvig JB, Forre O, Husby G, Husebekk A, Skogen B, Sletten K, Westermark P, editors. Dordrecht: Kluwer Academic Publishers
-
Sousa A, Coelho T, Lobato L, Sequeiros J. Anticipation of age-of-onset in familial amyloidotic polineuropathy (Portuguese type). In: Natvig JB, Forre O, Husby G, Husebekk A, Skogen B, Sletten K, Westermark P, editors. Amyloid and amyloidosis. Dordrecht: Kluwer Academic Publishers;1991. pp 694-697.
-
(1991)
Amyloid and Amyloidosis
, pp. 694-697
-
-
Sousa, A.1
Coelho, T.2
Lobato, L.3
Sequeiros, J.4
-
24
-
-
1542652922
-
Epidemiological study of familial amyloidotic polyneuropathy (FAP) in Kumamoto focus, Japan
-
Araki S, Ikegawa S, Okamoto N, Murakami T, Ando Y, Yi S. Epidemiological study of familial amyloidotic polyneuropathy (FAP) in Kumamoto focus, Japan. Neuromusc Disord 1996;6 (Suppl 1):39.
-
(1996)
Neuromusc Disord
, vol.6
, Issue.SUPPL. 1
, pp. 39
-
-
Araki, S.1
Ikegawa, S.2
Okamoto, N.3
Murakami, T.4
Ando, Y.5
Yi, S.6
-
25
-
-
1542758170
-
Familial amyloidotic polyneuropathy of the Portuguese type (Type I) in Rio de Janeiro, Brazil. Clinical features in 127 patients from 22 families
-
Novis SAP, André C, Cruz MW. Familial amyloidotic polyneuropathy of the Portuguese type (Type I) in Rio de Janeiro, Brazil. Clinical features in 127 patients from 22 families. Arquivos de Medicina 1990;3 (Suppl):263-266.
-
(1990)
Arquivos de Medicina
, vol.3
, Issue.SUPPL.
, pp. 263-266
-
-
Novis, S.A.P.1
André, C.2
Cruz, M.W.3
-
26
-
-
0029562263
-
Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa 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 Póvoa 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
-
27
-
-
4243541193
-
Genetic epidemiology of familial amyloid polyneuropathy (FAP-Met30) in Majorca (Spain)
-
Umea, 3-5 June
-
Munar-Qués M, Coelho T, Sequeiros J, Sousa A. Genetic epidemiology of familial amyloid polyneuropathy (FAP-Met30) in Majorca (Spain). Presented at the 4th International Symposium on familial amyloidotic polyneuropathy and other transthyretin disorders and The 3rd International Workshop on liver transplantation in familial amyloid polyneuropathy. Umea, 3-5 June 1999. p 27.
-
(1999)
4th International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Disorders and the 3rd International Workshop on Liver Transplantation in Familial Amyloid Polyneuropathy
, pp. 27
-
-
Munar-Qués, M.1
Coelho, T.2
Sequeiros, J.3
Sousa, A.4
-
28
-
-
0031970460
-
A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy
-
Yamamoto K, Ikeda S, Hanyu N, Takeda S, Yanagisawa N. A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. J Med Genet 1998;35:23-30.
-
(1998)
J Med Genet
, vol.35
, pp. 23-30
-
-
Yamamoto, K.1
Ikeda, S.2
Hanyu, N.3
Takeda, S.4
Yanagisawa, N.5
-
29
-
-
0027241247
-
Familial amyloidotic polyneuropathy in Sweden: A pedigree analysis
-
Drugge U, Andersson R, Chizari F, Danielsson M, Holmgren G, Sandgren O, Sousa A. Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. J Med Genet 1993; 1(30):388-392.
-
(1993)
J Med Genet
, vol.1
, Issue.30
, pp. 388-392
-
-
Drugge, U.1
Andersson, R.2
Chizari, F.3
Danielsson, M.4
Holmgren, G.5
Sandgren, O.6
Sousa, A.7
|