-
1
-
-
84981368487
-
Hereditary amyloidosis with polyneuropathy
-
Andersson R (1970) Hereditary amyloidosis with polyneuropathy. Acta Med Scand 188:85-94.
-
(1970)
Acta Med Scand
, vol.188
, pp. 85-94
-
-
Andersson, R.1
-
2
-
-
0014382710
-
Vitreous opacities in primary familial amyloidosis
-
Andersson R, Kassman T (1968) Vitreous opacities in primary familial amyloidosis. Acta Ophthal (Copenh) 46:441-447.
-
(1968)
Acta Ophthal (Copenh)
, vol.46
, pp. 441-447
-
-
Andersson, R.1
Kassman, T.2
-
3
-
-
77957180065
-
A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves
-
Andrade C (1952) A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75:408-427.
-
(1952)
Brain
, vol.75
, pp. 408-427
-
-
Andrade, C.1
-
4
-
-
0014300978
-
Polyneuritic amyloidosis in Japanese family
-
Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y (1968) Polyneuritic amyloidosis in Japanese family. Arch Neurol 18:593-602.
-
(1968)
Arch Neurol
, vol.18
, pp. 593-602
-
-
Araki, S.1
Mawatari, S.2
Ohta, M.3
Nakajima, A.4
Kuroiwa, Y.5
-
5
-
-
0032970177
-
Synthesis and evaluation of inhibitors of transthyretin amyloid formation based on the non-steroidal anti-inflammatory drug, Flufenamic Acid
-
Baures PW, Oza VB, Peterson SA, Kelly JW (1999) Synthesis and evaluation of inhibitors of transthyretin amyloid formation based on the non-steroidal anti-inflammatory drug, Flufenamic Acid. Bioorganic Med Chem 7:1339-1347.
-
(1999)
Bioorganic Med Chem
, vol.7
, pp. 1339-1347
-
-
Baures, P.W.1
Oza, V.B.2
Peterson, S.A.3
Kelly, J.W.4
-
7
-
-
33646244247
-
Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides
-
Benson MD, Kluve-Beckerman B, Zeldenrust SR, Siesky AM, Bodenmiller DM, Showalter AD, Sloop KW (2006) Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides. Muscle Nerve 33:609-618.
-
(2006)
Muscle Nerve
, vol.33
, pp. 609-618
-
-
Benson, M.D.1
Kluve-Beckerman, B.2
Zeldenrust, S.R.3
Siesky, A.M.4
Bodenmiller, D.M.5
Showalter, A.D.6
Sloop, K.W.7
-
8
-
-
0030330408
-
Metabolism of amyloid proteins
-
Bock GR, Goode JA eds, Wiley, New York
-
Benson MD, Kluve-Beckerman BB, Liepnieks JJ, Murrell JR, Hanes D, Uemichi T (1996) Metabolism of amyloid proteins. In. Bock GR, Goode JA (eds) The Nature and Origin of Amyloid Fibrils, Ciba Foundation Symposium 199. Wiley, New York, pp. 104-118.
-
(1996)
The Nature and Origin of Amyloid Fibrils, Ciba Foundation Symposium
, vol.199
, pp. 104-118
-
-
Benson, M.D.1
Kluve-Beckerman, B.B.2
Liepnieks, J.J.3
Murrell, J.R.4
Hanes, D.5
Uemichi, T.6
-
9
-
-
0017610714
-
Generalized amyloid in a family of Swedish origin. A study of 426 family members in 7 generations of a new kinship with neuropathy, nephropathy and central nervous system involvement
-
Benson MD, Cohen AS (1977) Generalized amyloid in a family of Swedish origin. A study of 426 family members in 7 generations of a new kinship with neuropathy, nephropathy and central nervous system involvement. Ann Intern Med 86:419-424.
-
(1977)
Ann Intern Med
, vol.86
, pp. 419-424
-
-
Benson, M.D.1
Cohen, A.S.2
-
10
-
-
0021083386
-
Prealbumin and retinol binding protein serum concentrations in the Indiana type hereditary amyloidosis
-
Benson MD, Dwulet FE (1983) Prealbumin and retinol binding protein serum concentrations in the Indiana type hereditary amyloidosis. Arthritis Rheum 26:1493-1498.
-
(1983)
Arthritis Rheum
, vol.26
, pp. 1493-1498
-
-
Benson, M.D.1
Dwulet, F.E.2
-
11
-
-
34848818004
-
The molecular biology and clinical features of amyloid neuropathy
-
Benson MD, Kincaid JC (2007) The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36:411-423.
-
(2007)
Muscle Nerve
, vol.36
, pp. 411-423
-
-
Benson, M.D.1
Kincaid, J.C.2
-
12
-
-
0023222657
-
Hereditary amyloidosis: Description of a new American kindred with late onset cardiomyopathy
-
Benson MD, Wallace MR, Tejada E, Bauman H, Page B (1987) Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Arthritis Rheum 30:195-200.
-
(1987)
Arthritis Rheum
, vol.30
, pp. 195-200
-
-
Benson, M.D.1
Wallace, M.R.2
Tejada, E.3
Bauman, H.4
Page, B.5
-
13
-
-
0000544949
-
Primary systemic amyloidosis: A review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form
-
Block WD, Jackson CE, Falls HF, Carey JH, Curtis AC, Rukavina JG (1956) Primary systemic amyloidosis: A review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. Medicine 35:239-334.
-
(1956)
Medicine
, vol.35
, pp. 239-334
-
-
Block, W.D.1
Jackson, C.E.2
Falls, H.F.3
Carey, J.H.4
Curtis, A.C.5
Rukavina, J.G.6
-
14
-
-
0242407579
-
Tabulation of human transthyretin (TTR) variants
-
Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE (2003) Tabulation of human transthyretin (TTR) variants. Amyloid 10:160-184.
-
(2003)
Amyloid
, vol.10
, pp. 160-184
-
-
Connors, L.H.1
Lim, A.2
Prokaeva, T.3
Roskens, V.A.4
Costello, C.E.5
-
15
-
-
0019825401
-
Senile cardiac amyloid: Evidence that fibrils contain a protein immunologically related to prealbumin
-
Cornwell GG, Westermark P, Natvig JB, Murdoch W (1981) Senile cardiac amyloid: evidence that fibrils contain a protein immunologically related to prealbumin. Immunology 44:447-452.
-
(1981)
Immunology
, vol.44
, pp. 447-452
-
-
Cornwell, G.G.1
Westermark, P.2
Natvig, J.B.3
Murdoch, W.4
-
16
-
-
33846058701
-
Familial oculoleptomeningeal amyloidosis with primary angiitis of the CNS
-
Dowell JD, Fleck JD, Vakili ST, Benson MD (2007) Familial oculoleptomeningeal amyloidosis with primary angiitis of the CNS. Neurology 68:77-78.
-
(2007)
Neurology
, vol.68
, pp. 77-78
-
-
Dowell, J.D.1
Fleck, J.D.2
Vakili, S.T.3
Benson, M.D.4
-
17
-
-
0030805834
-
Progression of ventricular wall thickening after liver transplantation for familial amyloidosis
-
Dubrey SW, Davidoff R, Skinner M, Bergethon P, Lewis D, Falk R (1997) Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 64:74-80.
-
(1997)
Transplantation
, vol.64
, pp. 74-80
-
-
Dubrey, S.W.1
Davidoff, R.2
Skinner, M.3
Bergethon, P.4
Lewis, D.5
Falk, R.6
-
18
-
-
0023019098
-
Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss)
-
Dwulet FE, Benson MD (1986) Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). J Clin Invest 78:880-886.
-
(1986)
J Clin Invest
, vol.78
, pp. 880-886
-
-
Dwulet, F.E.1
Benson, M.D.2
-
19
-
-
0001477726
-
Ocular manifestations of hereditary primary systemic amyloidosis
-
Falls HF, Jackson JH, Carey JG, Rukavina JG, Block WD (1955) Ocular manifestations of hereditary primary systemic amyloidosis. Arch Ophthalmol 54:660-664.
-
(1955)
Arch Ophthalmol
, vol.54
, pp. 660-664
-
-
Falls, H.F.1
Jackson, J.H.2
Carey, J.G.3
Rukavina, J.G.4
Block, W.D.5
-
20
-
-
0030958718
-
A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy
-
Goebel HH, Seddigh S, Hopf HC, Uemichi T, Benson MD, McKusick VA (1997) A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. Neuromuscular Disorders 7:229-230.
-
(1997)
Neuromuscular Disorders
, vol.7
, pp. 229-230
-
-
Goebel, H.H.1
Seddigh, S.2
Hopf, H.C.3
Uemichi, T.4
Benson, M.D.5
McKusick, V.A.6
-
21
-
-
0024560416
-
Systemic senile amyloidosis. Identification of a newprealbumin (transthyretin) variant in cardiac tissue: Immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy
-
Gorevic PD, Prelli FC, Wright J, Pras M, Frangione B (1989) Systemic senile amyloidosis. Identification of a newprealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. Clin Invest 83:836-843.
-
(1989)
Clin Invest
, vol.83
, pp. 836-843
-
-
Gorevic, P.D.1
Prelli, F.C.2
Wright, J.3
Pras, M.4
Frangione, B.5
-
22
-
-
0018952424
-
Familial oculoleptomeningeal amyloidosis
-
Goren H, Steinberg MC, Farboody GH (1980) Familial oculoleptomeningeal amyloidosis. Brain 103:473-495.
-
(1980)
Brain
, vol.103
, pp. 473-495
-
-
Goren, H.1
Steinberg, M.C.2
Farboody, G.H.3
-
23
-
-
0028260652
-
Mechanisms of transthyretin amyloidogenesis. Antigenic mapping of transthyretin purified from plasma and amyloid fibrils and within in situ tissue localizations
-
Gustavsson Å, Engström U, Westermark P (1994) Mechanisms of transthyretin amyloidogenesis. Antigenic mapping of transthyretin purified from plasma and amyloid fibrils and within in situ tissue localizations. Am J Pathol 144:1301-1311.
-
(1994)
Am J Pathol
, vol.144
, pp. 1301-1311
-
-
Gustavsson, Å.1
Engström, U.2
Westermark, P.3
-
24
-
-
0034799733
-
Transthyretin: A review from a structural perspective
-
Hamilton JA, Benson MD (2001) Transthyretin: A review from a structural perspective. Cell Mol Life Sci 58:1491-1521.
-
(2001)
Cell Mol Life Sci
, vol.58
, pp. 1491-1521
-
-
Hamilton, J.A.1
Benson, M.D.2
-
25
-
-
0037473750
-
Prevention of transthyretin amyloid disease by changing protein misfolding energetics
-
Hammarström P, Wiseman RL, Powers ET, Kelly JW (2003) Prevention of transthyretin amyloid disease by changing protein misfolding energetics. Science 299:713-716.
-
(2003)
Science
, vol.299
, pp. 713-716
-
-
Hammarström, P.1
Wiseman, R.L.2
Powers, E.T.3
Kelly, J.W.4
-
26
-
-
0024454072
-
Spinal claudication in systemic amyloidosis
-
Harats N, Worth R, Benson MD (1989) Spinal claudication in systemic amyloidosis. J Rheum 16:1003-1006.
-
(1989)
J Rheum
, vol.16
, pp. 1003-1006
-
-
Harats, N.1
Worth, R.2
Benson, M.D.3
-
27
-
-
0023823790
-
Homozygosity for the transthyretin-Met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy
-
Holmgren G, Haettner E, Nordenson I, Sandgren O, Steen L, Lundgren E (1988) Homozygosity for the transthyretin-Met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy. Clin Genet 34:333-338.
-
(1988)
Clin Genet
, vol.34
, pp. 333-338
-
-
Holmgren, G.1
Haettner, E.2
Nordenson, I.3
Sandgren, O.4
Steen, L.5
Lundgren, E.6
-
28
-
-
0023856729
-
Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis
-
Holmgren G, Holmberg E, Lindstrom A, Lindstrom E, Nordenson I, Sandgren O, Steen L, Svensson B, Lndgren E, von Gabain A (1988) Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis. Clin Genet 33:176-180.
-
(1988)
Clin Genet
, vol.33
, pp. 176-180
-
-
Holmgren, G.1
Holmberg, E.2
Lindstrom, A.3
Lindstrom, E.4
Nordenson, I.5
Sandgren, O.6
Steen, L.7
Svensson, B.8
Lndgren, E.9
Von Gabain, A.10
-
29
-
-
0025990675
-
Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30)
-
Holmgren G, Steen L, Ekstedt J, Groth CG, Ericzon BG, Eriksson S, Andersen O, Karlberg I, Norden G, Nakazato M, Hawkins P, Richardson S, Pepys M (1991) Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet 40:242-246.
-
(1991)
Clin Genet
, vol.40
, pp. 242-246
-
-
Holmgren, G.1
Steen, L.2
Ekstedt, J.3
Groth, C.G.4
Ericzon, B.G.5
Eriksson, S.6
Andersen, O.7
Karlberg, I.8
Norden, G.9
Nakazato, M.10
Hawkins, P.11
Richardson, S.12
Pepys, M.13
-
30
-
-
0031028712
-
Variantsequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans
-
Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN (1997) Variantsequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 336:466-473.
-
(1997)
N Engl J Med
, vol.336
, pp. 466-473
-
-
Jacobson, D.R.1
Pastore, R.D.2
Yaghoubian, R.3
Kane, I.4
Gallo, G.5
Buck, F.S.6
Buxbaum, J.N.7
-
31
-
-
0024384011
-
Late onset familial amyloid polyneuropathy in an American family of English origin
-
Kincaid JC, Wallace RW, Benson MD (1989) Late onset familial amyloid polyneuropathy in an American family of English origin. Neurology 39:861-863.
-
(1989)
Neurology
, vol.39
, pp. 861-863
-
-
Kincaid, J.C.1
Wallace, R.W.2
Benson, M.D.3
-
33
-
-
0021353310
-
Familial amyloid polyneuropathy. Demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade
-
Libbey CA, Rubinow A, Shirahama T, Deal C, Cohen AS (1984) Familial amyloid polyneuropathy. Demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade. Am J Med 76:18-24.
-
(1984)
Am J Med
, vol.76
, pp. 18-24
-
-
Libbey, C.A.1
Rubinow, A.2
Shirahama, T.3
Deal, C.4
Cohen, A.S.5
-
34
-
-
35648964702
-
Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation
-
Liepnieks JJ, Benson MD (2007) Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. Amyloid 14:277-282.
-
(2007)
Amyloid
, vol.14
, pp. 277-282
-
-
Liepnieks, J.J.1
Benson, M.D.2
-
35
-
-
33750364454
-
Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis
-
Liepnieks JJ, Wilson DL, Benson MD (2006) Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis. Amyloid 13:170-177.
-
(2006)
Amyloid
, vol.13
, pp. 170-177
-
-
Liepnieks, J.J.1
Wilson, D.L.2
Benson, M.D.3
-
36
-
-
0014448308
-
The genetic amyloidoses. With particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type)
-
Mahloudji M, Teasdall RD, Adamkiewicz JJ, Hartmann WH, Lambird PA, McKusick VA (1969) The genetic amyloidoses. With particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type). Medicine 48:1-37.
-
(1969)
Medicine
, vol.48
, pp. 1-37
-
-
Mahloudji, M.1
Teasdall, R.D.2
Adamkiewicz, J.J.3
Hartmann, W.H.4
Lambird, P.A.5
McKusick, V.A.6
-
37
-
-
0026598860
-
A novel transthyretin mutation associated with familial amyloidotic polyneuropoathy
-
Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S (1992) A novel transthyretin mutation associated with familial amyloidotic polyneuropoathy. Biochem Biophys Res Commun 182:520-526.
-
(1992)
Biochem Biophys Res Commun
, vol.182
, pp. 520-526
-
-
Murakami, T.1
Maeda, S.2
Yi, S.3
Ikegawa, S.4
Kawashima, E.5
Onodera, S.6
Shimada, K.7
Araki, S.8
-
38
-
-
0024745055
-
Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allelespecific enzymatic amplification
-
Nichols WC, Liepnieks JJ, McKusick VA, Benson MD (1989) Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allelespecific enzymatic amplification. Genomics 5:535-540.
-
(1989)
Genomics
, vol.5
, pp. 535-540
-
-
Nichols, W.C.1
Liepnieks, J.J.2
McKusick, V.A.3
Benson, M.D.4
-
39
-
-
44949277138
-
Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (Ile-122)
-
Nichols WC, Liepnieks JJ, Snyder EL, Benson MD (1991). Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (Ile-122). J Lab Clin Med 117:175-180.
-
(1991)
J Lab Clin Med
, vol.117
, pp. 175-180
-
-
Nichols, W.C.1
Liepnieks, J.J.2
Snyder, E.L.3
Benson, M.D.4
-
40
-
-
0031055128
-
Transthyretin amyloidosis: A new mutation associated with dementia
-
Petersen RB, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P. (1997) Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol 41:307-313.
-
(1997)
Ann Neurol
, vol.41
, pp. 307-313
-
-
Petersen, R.B.1
Goren, H.2
Cohen, M.3
Richardson, S.L.4
Tresser, N.5
Lynn, A.6
Gali, M.7
Estes, M.8
Gambetti, P.9
-
41
-
-
0032573082
-
Inhibiting transthyretin conformational changes that lead to amyloid fibril formation
-
Peterson SA, Klabunde T, Lashuel HA, Purkey H, Sacchettini JC, Kelly JW (1998) Inhibiting transthyretin conformational changes that lead to amyloid fibril formation. Proc Natl Acad Sci USA 95:12957-12960.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 12957-12960
-
-
Peterson, S.A.1
Klabunde, T.2
Lashuel, H.A.3
Purkey, H.4
Sacchettini, J.C.5
Kelly, J.W.6
-
43
-
-
0027213967
-
Left ventricular systeolic dysfunction precipitated by verapamil in cardiac amyloidosis
-
Pollak A, Falk RH (1993) Left ventricular systeolic dysfunction precipitated by verapamil in cardiac amyloidosis. Chest 104:618-620.
-
(1993)
Chest
, vol.104
, pp. 618-620
-
-
Pollak, A.1
Falk, R.H.2
-
44
-
-
0027305686
-
Thyroxine interactions with transthyretin: A comparison of 10 different naturallyoccurring transthyretin variants
-
Rosen HN, Moses AC, Murrell JR, Liepnieks JJ, Holmgren G, Sandgren O, Steen L, Benson MD (1993) Thyroxine interactions with transthyretin: a comparison of 10 different naturallyoccurring transthyretin variants. J Clin Endo Metab 77:370-374
-
(1993)
J Clin Endo Metab
, vol.77
, pp. 370-374
-
-
Rosen, H.N.1
Moses, A.C.2
Murrell, J.R.3
Liepnieks, J.J.4
Holmgren, G.5
Sandgren, O.6
Steen, L.7
Benson, M.D.8
-
45
-
-
0000544949
-
Primary systemic amyloidosis: A review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form
-
Rukavina JG, Block WD, Jackson CE, Falls HF, Carey JH, Curtis AC (1956) Primary systemic amyloidosis: a review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. Medicine 35:239-334.
-
(1956)
Medicine
, vol.35
, pp. 239-334
-
-
Rukavina, J.G.1
Block, W.D.2
Jackson, C.E.3
Falls, H.F.4
Carey, J.H.5
Curtis, A.C.6
-
46
-
-
0027337858
-
Apolipoprotein E 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases
-
Saunders AM, Schmader K, Breitner JC, Benson MD, Brown WT, Goldfard L, Goldgaber D, Manwaring MG, Szymanski MH, McCrown N, Dole KC, Schmechel DE, Strittmatter WJ, Pericak-Vance MA, Roses AD (1993) Apolipoprotein E 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases. Lancet 342:710-711.
-
(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
Goldfard, L.6
Goldgaber, D.7
Manwaring, M.G.8
Szymanski, M.H.9
McCrown, N.10
Dole, K.C.11
Schmechel, D.E.12
Strittmatter, W.J.13
Pericak-Vance, M.A.14
Roses, A.D.15
-
47
-
-
0028882249
-
Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement
-
Sandgren O (1995) Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement. Surv Ophthalmol 40:173-196.
-
(1995)
Surv Ophthalmol
, vol.40
, pp. 173-196
-
-
Sandgren, O.1
-
48
-
-
0025223026
-
Diagnosis of familial amyloidotic polyneuropathy in France
-
Satier F, Nichols WC, Benson MD (1990) Diagnosis of familial amyloidotic polyneuropathy in France. Clin Genet 38:469-473.
-
(1990)
Clin Genet
, vol.38
, pp. 469-473
-
-
Satier, F.1
Nichols, W.C.2
Benson, M.D.3
-
49
-
-
0023254244
-
Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR et mutation in hereditary amyloid neuropathy - Type I (Portuguese, Andrade)
-
Sequeiros J, Saraiva MJ (1987) Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR et mutation in hereditary amyloid neuropathy - type I (Portuguese, Andrade). Am J Med Genet 27:345-357.
-
(1987)
Am J Med Genet
, vol.27
, pp. 345-357
-
-
Sequeiros, J.1
Saraiva, M.J.2
-
50
-
-
0028357375
-
Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy
-
Shur O, Danielsson A, Holmgren G, Steen L (1994) Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy. J Int Med 479-485.
-
(1994)
J Int Med
, pp. 479-485
-
-
Shur, O.1
Danielsson, A.2
Holmgren, G.3
Steen, L.4
-
51
-
-
0021997714
-
Lowered prealbumin levels in patients with familial amyloid polyneuropathy (FAP) and their non-affected but at risk relatives
-
Skinner M, Connors LH, Rubinow A, Libbey C, Sipe JD, Cohen AS (1985) Lowered prealbumin levels in patients with familial amyloid polyneuropathy (FAP) and their non-affected but at risk relatives. Am J Med Sci 289:17-21.
-
(1985)
Am J Med Sci
, vol.289
, pp. 17-21
-
-
Skinner, M.1
Connors, L.H.2
Rubinow, A.3
Libbey, C.4
Sipe, J.D.5
Cohen, A.S.6
-
52
-
-
0025351967
-
A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases
-
Ueno S, Uemichi T, Yorifuji S, Tarui S (1990) A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. Biochem Biophys Res Commun 169:143-147.
-
(1990)
Biochem Biophys Res Commun
, vol.169
, pp. 143-147
-
-
Ueno, S.1
Uemichi, T.2
Yorifuji, S.3
Tarui, S.4
-
53
-
-
0015649391
-
Metabolism of the vitamin A transporting protein complex. 1. Turnover studies in normal persons and in patients with chronic renal failure
-
Vahlquist A, Peterson PA, Wibell L (1973) Metabolism of the vitamin A transporting protein complex. 1. Turnover studies in normal persons and in patients with chronic renal failure. Eur J Clin Invest 3:352-362.
-
(1973)
Eur J Clin Invest
, vol.3
, pp. 352-362
-
-
Vahlquist, A.1
Peterson, P.A.2
Wibell, L.3
-
54
-
-
0029095341
-
Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule
-
Waits RP, Yamada T, Uemichi T, Benson MD (1995) Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule. Clin Chem 41:1288-1291.
-
(1995)
Clin Chem
, vol.41
, pp. 1288-1291
-
-
Waits, R.P.1
Yamada, T.2
Uemichi, T.3
Benson, M.D.4
-
55
-
-
0022472793
-
Biochemical and molecular genetic characteristic of a new variant prealbumin associated with hereditary amyloidosis
-
Wallace MR, Dwulet FE, Conneally PM, Benson MD (1986) Biochemical and molecular genetic characteristic of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest 78:6-12.
-
(1986)
J Clin Invest
, vol.78
, pp. 6-12
-
-
Wallace, M.R.1
Dwulet, F.E.2
Conneally, P.M.3
Benson, M.D.4
-
56
-
-
0023947016
-
Identification of a new hereditary amyloidosis prealbumin variant, tyr77, and detection of the gene by DNA analysis
-
Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD (1988) Identification of a new hereditary amyloidosis prealbumin variant, tyr77, and detection of the gene by DNA analysis. J Clin Invest 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
-
57
-
-
0021969930
-
Serum prealbumin and retinol-binding protein in the prealbumin-related senile and familial forms of systemic amyloidosis
-
Westermark P, Pitkanen P, Benson L, Vahlquist A, Olofsson BO, Cornwell GG III (1985) Serum prealbumin and retinol-binding protein in the prealbumin-related senile and familial forms of systemic amyloidosis. Lab Invest 52:314-318.
-
(1985)
Lab Invest
, vol.52
, pp. 314-318
-
-
Westermark, P.1
Pitkanen, P.2
Benson, L.3
Vahlquist, A.4
Olofsson, B.O.5
Cornwell III, G.G.6
-
59
-
-
22144489897
-
A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population
-
Yamashita T, Hamidi Asl K, Yazaki M, Benson MD (2005) A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. Amyloid J Protein Folding Disord 12:127-130.
-
(2005)
Amyloid J Protein Folding Disord
, vol.12
, pp. 127-130
-
-
Yamashita, T.1
Hamidi Asl, K.2
Yazaki, M.3
Benson, M.D.4
-
60
-
-
12244298210
-
Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities
-
Yazaki M, Connors LH, Eagle Jr, RC, Leff SR, Skinner M, Benson MD (2002) Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities. Amyloid J Protein Folding Disord 9:263-267.
-
(2002)
Amyloid J Protein Folding Disord
, vol.9
, pp. 263-267
-
-
Yazaki, M.1
Connors, L.H.2
Eagle Jr., R.C.3
Leff, S.R.4
Skinner, M.5
Benson, M.D.6
-
61
-
-
0036158781
-
Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin Ser 25
-
Yazaki M, Yamashita T, Kincaid J, Scott J, Auger R, Dyck P, Benson MD (2002) Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin Ser 25. Muscle Nerve 25:244-250.
-
(2002)
Muscle Nerve
, vol.25
, pp. 244-250
-
-
Yazaki, M.1
Yamashita, T.2
Kincaid, J.3
Scott, J.4
Auger, R.5
Dyck, P.6
Benson, M.D.7
-
62
-
-
0024538761
-
Haplotype analysis of familial amyloidotic polyneuropathy
-
Yoshioka K, Furuya H, Sasaki H, Saraiva MJM, Costa PP, Sakaki Y (1980) Haplotype analysis of familial amyloidotic polyneuropathy. Hum Genet 82:9-13.
-
(1980)
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
-
63
-
-
0028151913
-
Haplotype analysis of His58, Ala60 and Tyr77 types of familial amyloidotic polyneuropathy
-
Zhao N, Aoyama N, Benson MD, Skinner M, Satier F, Sakaki Y (1994) Haplotype analysis of His58, Ala60 and Tyr77 types of familial amyloidotic polyneuropathy. Amyloid Int J Exp Clin Invest 1:75-79.
-
(1994)
Amyloid Int J Exp Clin Invest
, vol.1
, pp. 75-79
-
-
Zhao, N.1
Aoyama, N.2
Benson, M.D.3
Skinner, M.4
Satier, F.5
Sakaki, Y.6
-
64
-
-
0032013091
-
Transthyretin mutation (Serine 84) associated with familial amyloid polyneuropathy in a Hungarian family
-
Zólyomi Z, Benson MD, Halász K, Uemichi T, Fekete G (1998) Transthyretin mutation (Serine 84) associated with familial amyloid polyneuropathy in a Hungarian family. Amyloid Int J Exp Clin Invest 5:30-34.
-
(1998)
Amyloid Int J Exp Clin Invest
, vol.5
, pp. 30-34
-
-
Zólyomi, Z.1
Benson, M.D.2
Halász, K.3
Uemichi, T.4
Fekete, G.5
|