-
1
-
-
0033793972
-
Transthyretin related familial amyloid polyneuropathy
-
Plante-Bordeneuve V., and Said G. Transthyretin related familial amyloid polyneuropathy. Curr Opin Neurol 13 (2000) 569-573
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 569-573
-
-
Plante-Bordeneuve, V.1
Said, G.2
-
2
-
-
33947245436
-
Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration
-
Hou X., Aguilar M.I., and Small D.H. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. Febs J 274 (2007) 1637-1650
-
(2007)
Febs J
, vol.274
, pp. 1637-1650
-
-
Hou, X.1
Aguilar, M.I.2
Small, D.H.3
-
3
-
-
77957180065
-
A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves
-
Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75 (1952) 408-427
-
(1952)
Brain
, vol.75
, pp. 408-427
-
-
Andrade, C.1
-
4
-
-
0016913418
-
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 Suppl 590 (1976) 1-64
-
(1976)
Acta Med Scand Suppl
, vol.590
, pp. 1-64
-
-
Andersson, R.1
-
5
-
-
0029859731
-
Familial amyloid polyneuropathy: new developments in genetics and treatment
-
Coelho T. Familial amyloid polyneuropathy: new developments in genetics and treatment. Curr Opin Neurol 9 (1996) 355-359
-
(1996)
Curr Opin Neurol
, vol.9
, pp. 355-359
-
-
Coelho, T.1
-
6
-
-
33845991494
-
Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal
-
Conceicao I., and De Carvalho M. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve 35 (2007) 116-118
-
(2007)
Muscle Nerve
, vol.35
, pp. 116-118
-
-
Conceicao, I.1
De Carvalho, M.2
-
7
-
-
0028200952
-
Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate
-
Holmgren G., Costa P.M., Andersson C., Asplund K., Steen L., Beckman L., et al. Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J Med Genet 31 (1994) 351-354
-
(1994)
J Med Genet
, vol.31
, pp. 351-354
-
-
Holmgren, G.1
Costa, P.M.2
Andersson, C.3
Asplund, K.4
Steen, L.5
Beckman, L.6
-
8
-
-
65449119979
-
Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus
-
Dardiotis E., Koutsou P., Papanicolaou E.Z., Vonta I., Kladi A., Vassilopoulos D., et al. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus. Amyloid 16 (2009) 32-37
-
(2009)
Amyloid
, vol.16
, pp. 32-37
-
-
Dardiotis, E.1
Koutsou, P.2
Papanicolaou, E.Z.3
Vonta, I.4
Kladi, A.5
Vassilopoulos, D.6
-
9
-
-
0029562263
-
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., and 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 60 (1995) 512-521
-
(1995)
Am J Med Genet
, vol.60
, pp. 512-521
-
-
Sousa, A.1
Coelho, T.2
Barros, J.3
Sequeiros, J.4
-
10
-
-
14044275133
-
Susceptibility and modifier genes in Portuguese transthyretin V30 M amyloid polyneuropathy: complexity in a single-gene disease
-
Soares M.L., Coelho T., Sousa A., Batalov S., Conceicao I., Sales-Luis M.L., et al. Susceptibility and modifier genes in Portuguese transthyretin V30 M amyloid polyneuropathy: complexity in a single-gene disease. Hum Mol Genet 14 (2005) 543-553
-
(2005)
Hum Mol Genet
, vol.14
, pp. 543-553
-
-
Soares, M.L.1
Coelho, T.2
Sousa, A.3
Batalov, S.4
Conceicao, I.5
Sales-Luis, M.L.6
-
11
-
-
0027275791
-
Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence
-
Sousa A., Andersson R., Drugge U., Holmgren G., and Sandgren O. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 43 (1993) 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
-
12
-
-
0036846492
-
Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form
-
Koike H., Misu K., Ikeda S., Ando Y., Nakazato M., Ando E., et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 59 (2002) 1771-1776
-
(2002)
Arch Neurol
, vol.59
, pp. 1771-1776
-
-
Koike, H.1
Misu, K.2
Ikeda, S.3
Ando, Y.4
Nakazato, M.5
Ando, E.6
-
13
-
-
34848818004
-
The molecular biology and clinical features of amyloid neuropathy
-
Benson M.D., and Kincaid J.C. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36 (2007) 411-423
-
(2007)
Muscle Nerve
, vol.36
, pp. 411-423
-
-
Benson, M.D.1
Kincaid, J.C.2
-
15
-
-
0035920156
-
Tetramer dissociation and monomer partial unfolding precedes protofibril formation in amyloidogenic transthyretin variants
-
Quintas A., Vaz D.C., Cardoso I., Saraiva M.J., and Brito R.M. Tetramer dissociation and monomer partial unfolding precedes protofibril formation in amyloidogenic transthyretin variants. J Biol Chem 276 (2001) 27207-27213
-
(2001)
J Biol Chem
, vol.276
, pp. 27207-27213
-
-
Quintas, A.1
Vaz, D.C.2
Cardoso, I.3
Saraiva, M.J.4
Brito, R.M.5
-
16
-
-
0035964955
-
Trans-suppression of misfolding in an amyloid disease
-
Hammarstrom P., Schneider F., and Kelly J.W. Trans-suppression of misfolding in an amyloid disease. Science 293 (2001) 2459-2462
-
(2001)
Science
, vol.293
, pp. 2459-2462
-
-
Hammarstrom, P.1
Schneider, F.2
Kelly, J.W.3
-
17
-
-
0026542786
-
Apolipoprotein E: a pathological chaperone protein in patients with cerebral and systemic amyloid
-
Wisniewski T., and Frangione B. Apolipoprotein E: a pathological chaperone protein in patients with cerebral and systemic amyloid. Neurosci Lett 135 (1992) 235-238
-
(1992)
Neurosci Lett
, vol.135
, pp. 235-238
-
-
Wisniewski, T.1
Frangione, B.2
-
18
-
-
0025963347
-
Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type I
-
Yi S., Takahashi K., Naito M., Tashiro F., Wakasugi S., Maeda S., et al. Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type I. Am J Pathol 138 (1991) 403-412
-
(1991)
Am J Pathol
, vol.138
, pp. 403-412
-
-
Yi, S.1
Takahashi, K.2
Naito, M.3
Tashiro, F.4
Wakasugi, S.5
Maeda, S.6
-
19
-
-
0033808143
-
Complement activation in acquired and hereditary amyloid neuropathy
-
Hafer-Macko C.E., Dyck P.J., and Koski C.L. Complement activation in acquired and hereditary amyloid neuropathy. J Peripher Nerv Syst 5 (2000) 131-139
-
(2000)
J Peripher Nerv Syst
, vol.5
, pp. 131-139
-
-
Hafer-Macko, C.E.1
Dyck, P.J.2
Koski, C.L.3
-
20
-
-
0026744136
-
Effect of serum amyloid P component level on transthyretin-derived amyloid deposition in a transgenic mouse model of familial amyloidotic polyneuropathy
-
Murakami T., Yi S., Maeda S., Tashiro F., Yamamura K., Takahashi K., et al. Effect of serum amyloid P component level on transthyretin-derived amyloid deposition in a transgenic mouse model of familial amyloidotic polyneuropathy. Am J Pathol 141 (1992) 451-456
-
(1992)
Am J Pathol
, vol.141
, pp. 451-456
-
-
Murakami, T.1
Yi, S.2
Maeda, S.3
Tashiro, F.4
Yamamura, K.5
Takahashi, K.6
-
21
-
-
0030021887
-
No association between apolipoprotein E epsilon4 allele and the age of onset in type I familial amyloid polyneuropathy
-
Satoh S., Tokuda T., Ikeda S., Sekijima Y., Yanagisawa N., Hidaka H., et al. No association between apolipoprotein E epsilon4 allele and the age of onset in type I familial amyloid polyneuropathy. Neurosci Lett 204 (1996) 209-211
-
(1996)
Neurosci Lett
, vol.204
, pp. 209-211
-
-
Satoh, S.1
Tokuda, T.2
Ikeda, S.3
Sekijima, Y.4
Yanagisawa, N.5
Hidaka, H.6
-
22
-
-
0029010736
-
Serum amyloid P component prevents proteolysis of the amyloid fibrils of Alzheimer disease and systemic amyloidosis
-
Tennent G.A., Lovat L.B., and Pepys M.B. Serum amyloid P component prevents proteolysis of the amyloid fibrils of Alzheimer disease and systemic amyloidosis. Proc Natl Acad Sci U S A 92 (1995) 4299-4303
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 4299-4303
-
-
Tennent, G.A.1
Lovat, L.B.2
Pepys, M.B.3
-
23
-
-
0037118028
-
Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis
-
Pepys M.B., Herbert J., Hutchinson W.L., Tennent G.A., Lachmann H.J., Gallimore J.R., et al. Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis. Nature 417 (2002) 254-259
-
(2002)
Nature
, vol.417
, pp. 254-259
-
-
Pepys, M.B.1
Herbert, J.2
Hutchinson, W.L.3
Tennent, G.A.4
Lachmann, H.J.5
Gallimore, J.R.6
-
24
-
-
0028820787
-
Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus
-
Cariolou M.A., Kokkofitou A., Manoli P., Christou S., Karagrigoriou A., and Middleton L. Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus. Genet Epidemiol 12 (1995) 489-497
-
(1995)
Genet Epidemiol
, vol.12
, pp. 489-497
-
-
Cariolou, M.A.1
Kokkofitou, A.2
Manoli, P.3
Christou, S.4
Karagrigoriou, A.5
Middleton, L.6
-
25
-
-
0032542897
-
What's wrong with Bonferroni adjustments
-
Perneger T.V. What's wrong with Bonferroni adjustments. Bmj 316 (1998) 1236-1238
-
(1998)
Bmj
, vol.316
, pp. 1236-1238
-
-
Perneger, T.V.1
-
26
-
-
1642575162
-
Neurodegeneration in familial amyloid polyneuropathy: from pathology to molecular signaling
-
Sousa M.M., and Saraiva M.J. Neurodegeneration in familial amyloid polyneuropathy: from pathology to molecular signaling. Prog Neurobiol 71 (2003) 385-400
-
(2003)
Prog Neurobiol
, vol.71
, pp. 385-400
-
-
Sousa, M.M.1
Saraiva, M.J.2
-
27
-
-
0035180285
-
Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: evidence for toxicity of nonfibrillar aggregates
-
Sousa M.M., Cardoso I., Fernandes R., Guimaraes A., and Saraiva M.J. Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: evidence for toxicity of nonfibrillar aggregates. Am J Pathol 159 (2001) 1993-2000
-
(2001)
Am J Pathol
, vol.159
, pp. 1993-2000
-
-
Sousa, M.M.1
Cardoso, I.2
Fernandes, R.3
Guimaraes, A.4
Saraiva, M.J.5
-
28
-
-
0242559073
-
Familial amyloid polyneuropathy: mechanisms leading to nerve degeneration
-
Said G. Familial amyloid polyneuropathy: mechanisms leading to nerve degeneration. Amyloid 10 Suppl 1 (2003) 7-12
-
(2003)
Amyloid
, vol.10
, Issue.SUPPL. 1
, pp. 7-12
-
-
Said, G.1
-
29
-
-
14044249894
-
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30 M) in Portugal and Sweden
-
Soares M.L., Coelho T., Sousa A., Holmgren G., Saraiva M.J., Kastner D.L., et al. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30 M) in Portugal and Sweden. Eur J Hum Genet 12 (2004) 225-237
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 225-237
-
-
Soares, M.L.1
Coelho, T.2
Sousa, A.3
Holmgren, G.4
Saraiva, M.J.5
Kastner, D.L.6
-
30
-
-
0037281414
-
Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus
-
Racila D.M., Sontheimer C.J., Sheffield A., Wisnieski J.J., Racila E., and Sontheimer R.D. Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus. Lupus 12 (2003) 124-132
-
(2003)
Lupus
, vol.12
, pp. 124-132
-
-
Racila, D.M.1
Sontheimer, C.J.2
Sheffield, A.3
Wisnieski, J.J.4
Racila, E.5
Sontheimer, R.D.6
-
31
-
-
33644860265
-
The pattern of clinical breast cancer metastasis correlates with a single nucleotide polymorphism in the C1qA component of complement
-
Racila E., Racila D.M., Ritchie J.M., Taylor C., Dahle C., and Weiner G.J. The pattern of clinical breast cancer metastasis correlates with a single nucleotide polymorphism in the C1qA component of complement. Immunogenetics 58 (2006) 1-8
-
(2006)
Immunogenetics
, vol.58
, pp. 1-8
-
-
Racila, E.1
Racila, D.M.2
Ritchie, J.M.3
Taylor, C.4
Dahle, C.5
Weiner, G.J.6
-
32
-
-
0033133360
-
The mouse C1q A-chain sequence alters beta-amyloid-induced complement activation
-
Webster S.D., Tenner A.J., Poulos T.L., and Cribbs D.H. The mouse C1q A-chain sequence alters beta-amyloid-induced complement activation. Neurobiol Aging 20 (1999) 297-304
-
(1999)
Neurobiol Aging
, vol.20
, pp. 297-304
-
-
Webster, S.D.1
Tenner, A.J.2
Poulos, T.L.3
Cribbs, D.H.4
-
33
-
-
3242766671
-
Absence of C1q leads to less neuropathology in transgenic mouse models of Alzheimer's disease
-
Fonseca M.I., Zhou J., Botto M., and Tenner A.J. Absence of C1q leads to less neuropathology in transgenic mouse models of Alzheimer's disease. J Neurosci 24 (2004) 6457-6465
-
(2004)
J Neurosci
, vol.24
, pp. 6457-6465
-
-
Fonseca, M.I.1
Zhou, J.2
Botto, M.3
Tenner, A.J.4
-
34
-
-
84934437247
-
The double-edged flower: roles of complement protein C1q in neurodegenerative diseases
-
Tenner A.J., and Fonseca M.I. The double-edged flower: roles of complement protein C1q in neurodegenerative diseases. Adv Exp Med Biol 586 (2006) 153-176
-
(2006)
Adv Exp Med Biol
, vol.586
, pp. 153-176
-
-
Tenner, A.J.1
Fonseca, M.I.2
-
35
-
-
38049107388
-
Complement component C1q inhibits beta-amyloid- and serum amyloid P-induced neurotoxicity via caspase- and calpain-independent mechanisms
-
Pisalyaput K., and Tenner A.J. Complement component C1q inhibits beta-amyloid- and serum amyloid P-induced neurotoxicity via caspase- and calpain-independent mechanisms. J Neurochem 104 (2008) 696-707
-
(2008)
J Neurochem
, vol.104
, pp. 696-707
-
-
Pisalyaput, K.1
Tenner, A.J.2
-
36
-
-
0028278060
-
Protection against Alzheimer's disease with apoE epsilon 2
-
Talbot C., Lendon C., Craddock N., Shears S., Morris J.C., and Goate A. Protection against Alzheimer's disease with apoE epsilon 2. Lancet 343 (1994) 1432-1433
-
(1994)
Lancet
, vol.343
, pp. 1432-1433
-
-
Talbot, C.1
Lendon, C.2
Craddock, N.3
Shears, S.4
Morris, J.C.5
Goate, A.6
-
37
-
-
0031947446
-
Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy
-
Greenberg S.M., Vonsattel J.P., Segal A.Z., Chiu R.I., Clatworthy A.E., Liao A., Hyman B.T., and Rebeck G.W. Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy. Neurology 50 (1998) 961-965
-
(1998)
Neurology
, vol.50
, pp. 961-965
-
-
Greenberg, S.M.1
Vonsattel, J.P.2
Segal, A.Z.3
Chiu, R.I.4
Clatworthy, A.E.5
Liao, A.6
Hyman, B.T.7
Rebeck, G.W.8
-
38
-
-
0027337858
-
Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases
-
Saunders A.M., Schmader K., Breitner J.C., Benson M.D., Brown W.T., Goldfarb L., Goldgaber D., Manwaring M.G., Szymanski M.H., McCown N., et al. Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases. Lancet 342 (1993) 710-711
-
(1993)
Lancet
, vol.342
, pp. 710-711
-
-
Saunders, A.M.1
Schmader, K.2
Breitner, J.C.3
Benson, M.D.4
Brown, W.T.5
Goldfarb, L.6
Goldgaber, D.7
Manwaring, M.G.8
Szymanski, M.H.9
McCown, N.10
|