-
1
-
-
0034935464
-
Hereditary and acquired amyloid neuropathies
-
Adams D. Hereditary and acquired amyloid neuropathies. J Neurol 2001;248:647-657.
-
(2001)
J Neurol
, vol.248
, pp. 647-657
-
-
Adams, D.1
-
2
-
-
77957180065
-
A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of the peripheral nerves
-
Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408-427.
-
(1952)
Brain
, vol.75
, pp. 408-427
-
-
Andrade, C.1
-
3
-
-
0028923465
-
Recommendations for standardized human pedigree nomenclature
-
Bennett RL, Steinhaus KA, Uhrich SB, O'Sullivan CK, Resta RG, Lochner-Doyle D, et al. Recommendations for standardized human pedigree nomenclature. Am J Hum Genet 1995;56:745-752.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 745-752
-
-
Bennett, R.L.1
Steinhaus, K.A.2
Uhrich, S.B.3
O'Sullivan, C.K.4
Resta, R.G.5
Lochner-Doyle, D.6
-
4
-
-
0017824077
-
Structure of prealbumin: Secondary, tertiary and quarternary interactions determined by Fourier refinement at 1.8 Å
-
Blake CCF, Geisow MJ, Oatley SJ. Structure of prealbumin: secondary, tertiary and quarternary interactions determined by Fourier refinement at 1.8 Å. J Mol Biol 1978;121:339-356.
-
(1978)
J Mol Biol
, vol.121
, pp. 339-356
-
-
Blake, C.C.F.1
Geisow, M.J.2
Oatley, S.J.3
-
5
-
-
0030982188
-
Familial amyloidosis in one Chinese family: Clinical, immunological, and molecular genetic analysis
-
Chou CT, Lee CC, Chang DM, Buxbaum JN, Jacobson DR. Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis. J Intern Med 1997;241:327-331.
-
(1997)
J Intern Med
, vol.241
, pp. 327-331
-
-
Chou, C.T.1
Lee, C.C.2
Chang, D.M.3
Buxbaum, J.N.4
Jacobson, D.R.5
-
6
-
-
0002842219
-
Familial amyloidotic polyneuropathy
-
Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, editors. Boston: Butterworth-Heinemann
-
Herbert J. Familial amyloidotic polyneuropathy. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, editors. The molecular and genetic basis of neurological disease. Boston: Butterworth-Heinemann; 1997. p 845-864.
-
(1997)
The Molecular and Genetic Basis of Neurological Disease
, pp. 845-864
-
-
Herbert, J.1
-
8
-
-
0035957104
-
Transthyretin-associated neuropathic amyloidosis: Pathogenesis and treatment
-
Hund E, Linke RP, Willig F, Grau A. Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment. Neurology 2001;56:431-435.
-
(2001)
Neurology
, vol.56
, pp. 431-435
-
-
Hund, E.1
Linke, R.P.2
Willig, F.3
Grau, A.4
-
9
-
-
0037046222
-
Familial transthyretin-type amyloid polyneuropathy in Japan
-
Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan. Neurology 2002;58:1001-1007.
-
(2002)
Neurology
, vol.58
, pp. 1001-1007
-
-
Ikeda, S.1
Nakazato, M.2
Ando, Y.3
Sobue, G.4
-
10
-
-
0034241448
-
Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family
-
Lachmann HJ, Booth DR, Bybee A, Hawkins PN. Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family. Hum Mutat 2000;16:180.
-
(2000)
Hum Mutat
, vol.16
, pp. 180
-
-
Lachmann, H.J.1
Booth, D.R.2
Bybee, A.3
Hawkins, P.N.4
-
11
-
-
0035997528
-
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis
-
Lim A, Prokaeva T, Connor LH, FaIk RH, Skinner M, Costello CE. Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. Amyloid 2002;9:134-140.
-
(2002)
Amyloid
, vol.9
, pp. 134-140
-
-
Lim, A.1
Prokaeva, T.2
Connor, L.H.3
Faik, R.H.4
Skinner, M.5
Costello, C.E.6
-
12
-
-
0037507293
-
Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred
-
Mak CM, Lam CW, Fan ST, Liu CL, Tam SC. Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred. Acta Neurol Scand 2003;107:419-422.
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 419-422
-
-
Mak, C.M.1
Lam, C.W.2
Fan, S.T.3
Liu, C.L.4
Tam, S.C.5
-
13
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
14
-
-
0032863087
-
Late-onset familial amyloid polyneuropathy type 1 (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan
-
Misu K, Hattori N, Nagamatsu M, Ikeda S, Ando Y, Nakazato M, et al. Late-onset familial amyloid polyneuropathy type 1 (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. 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
-
15
-
-
0033793972
-
Transthyretin related familial amyloid polyneuropathy
-
Planté-Bordeneuve V, Said G. Transthyretin related familial amyloid polyneuropathy. Curr Opin Neurol 2000;13:569-573.
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 569-573
-
-
Planté-Bordeneuve, V.1
Said, G.2
-
16
-
-
0035018450
-
Transthyretin mutations in hyperthyroxinemia and amyloid diseases
-
Saraiva MJM. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat 2001;17:493-503.
-
(2001)
Hum Mutat
, vol.17
, pp. 493-503
-
-
Saraiva, M.J.M.1
-
17
-
-
23044470902
-
Hereditary transthyretin amyloidosis: Molecular basis and therapeutical strategies
-
May 14
-
Saraiva MJM. Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies. Exp Rev Mol Med May 14, 2002, http://www. expertreviews.org/02004647h.htm
-
(2002)
Exp Rev Mol Med
-
-
Saraiva, M.J.M.1
-
18
-
-
0033428635
-
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
-
Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, et al. Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid 1999;6:282-288.
-
(1999)
Amyloid
, vol.6
, pp. 282-288
-
-
Tachibana, N.1
Tokuda, T.2
Yoshida, K.3
Taketomi, T.4
Nakazato, M.5
Li, Y.F.6
-
19
-
-
33444458383
-
-
Boston University School of Medicine mass spectrometry resource
-
Transthyretin mutations. Retrieved December 8, 2004 from Boston University School of Medicine mass spectrometry resource, http://www.bumc.bu. edu/Dept/Content.aspx?DepartmentiD= 354&PageID=5530.
-
Transthyretin Mutations
-
-
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