-
1
-
-
0028803995
-
A new apoliprotein A1 variant, Trp50Arg, causes hereditary amyloidoisis
-
Booth DR, Tan SY, Booth SE, Hsuan JJ, Totty NF, Nguyen O, Hutton T, Vigushim DM, Tennent GA, Hutchinson WL, Thompson N, Soutar AK, Hawkins PN and Pepys MB (1995). A new apoliprotein A1 variant, Trp50Arg, causes hereditary amyloidoisis. QMJ 88, 695-702
-
(1995)
QMJ
, vol.88
, pp. 695-702
-
-
Booth, D.R.1
Tan, S.Y.2
Booth, S.E.3
Hsuan, J.J.4
Totty, N.F.5
Nguyen, O.6
Hutton, T.7
Vigushim, D.M.8
Tennent, G.A.9
Hutchinson, W.L.10
Thompson, N.11
Soutar, A.K.12
Hawkins, P.N.13
Pepys, M.B.14
-
2
-
-
0029948966
-
Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein Al gene
-
Booth DR, Tan SY, Booth SE, Tennent GA, Hutchinson WL, Hsuan JJ, Totty NF, Truong O, Soutar AK, Hawkins PN, Bruguera M, Caballeria J, Sole M, Campistol JM and Pepys MB (1996). Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein Al gene. J Clin Invest 97, 2714-2721.
-
(1996)
J Clin Invest
, vol.97
, pp. 2714-2721
-
-
Booth, D.R.1
Tan, S.Y.2
Booth, S.E.3
Tennent, G.A.4
Hutchinson, W.L.5
Hsuan, J.J.6
Totty, N.F.7
Truong, O.8
Soutar, A.K.9
Hawkins, P.N.10
Bruguera, M.11
Caballeria, J.12
Sole, M.13
Campistol, J.M.14
Pepys, M.B.15
-
3
-
-
0035868431
-
A new hereditary amyloidosis: The result of a stop-codon mutation in the apolipoprotein All gene
-
Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guemther B and Kluve-Beckerman B (2001). A new hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein All gene. Genomics 15, 272-277
-
(2001)
Genomics
, vol.15
, pp. 272-277
-
-
Benson, M.D.1
Liepnieks, J.J.2
Yazaki, M.3
Yamashita, T.4
Hamidi Asl, K.5
Guemther, B.6
Kluve-Beckerman, B.7
-
4
-
-
0027506498
-
Human lysozyme gene mutation cause hereditary systemic amyloidosis
-
Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CCF, Terry CJ, Ferst TG, Zalin AM and Hsuan JJ (1993). Human lysozyme gene mutation cause hereditary systemic amyloidosis. Nature 362, 553-557
-
(1993)
Nature
, vol.362
, pp. 553-557
-
-
Pepys, M.B.1
Hawkins, P.N.2
Booth, D.R.3
Vigushin, D.M.4
Tennent, G.A.5
Soutar, A.K.6
Totty, N.7
Nguyen, O.8
Blake, C.C.F.9
Terry, C.J.10
Ferst, T.G.11
Zalin, A.M.12
Hsuan, J.J.13
-
5
-
-
0027465319
-
Hereditary renal amyloidosis associated with a mutant fibrinogen Aα chain
-
Benson MD, Liepnieks JJ, Uemichi T, Whecker G and Correa R (1993). Hereditary renal amyloidosis associated with a mutant fibrinogen Aα chain. Nat Genet 3, 252-255
-
(1993)
Nat Genet
, vol.3
, pp. 252-255
-
-
Benson, M.D.1
Liepnieks, J.J.2
Uemichi, T.3
Whecker, G.4
Correa, R.5
-
6
-
-
0028211154
-
Hereditary renal amyloidosis with a novel variant fibrinogen
-
Uemichi T, Liepnieks JJ and Benson MD (1994). Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest 93, 731-736
-
(1994)
J Clin Invest
, vol.93
, pp. 731-736
-
-
Uemichi, T.1
Liepnieks, J.J.2
Benson, M.D.3
-
7
-
-
0029916231
-
A frame shift mutation in the fibrinogen Aα chain gene in a kindred with renal amyloidosis
-
Uemichi T, Liepnieks JJ, Yamada T, Gertz MA, Bangs N and Benson (1996). A frame shift mutation in the fibrinogen Aα chain gene in a kindred with renal amyloidosis. Blood 87, 4197-4203
-
(1996)
Blood
, vol.87
, pp. 4197-4203
-
-
Uemichi, T.1
Liepnieks, J.J.2
Yamada, T.3
Gertz, M.A.4
Bangs, N.5
Benson6
-
8
-
-
0031468862
-
Renal amyloidosis with a frame shift mutation in fibrinogen α-chain producing a novel amyloid protein
-
Hamidi L, Liepnieks JL, Uemichi T, Rebibou JM, Justrabo E, Droz D, Mousson C, Chalopin JM, Benson MD, Delpech M and Grateau G (1997). Renal amyloidosis with a frame shift mutation in fibrinogen α-chain producing a novel amyloid protein. Blood 90, 4799-4805
-
(1997)
Blood
, vol.90
, pp. 4799-4805
-
-
Hamidi, L.1
Liepnieks, J.L.2
Uemichi, T.3
Rebibou, J.M.4
Justrabo, E.5
Droz, D.6
Mousson, C.7
Chalopin, J.M.8
Benson, M.D.9
Delpech, M.10
Grateau, G.11
-
9
-
-
0034020609
-
Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen α-chain variant in an English family
-
Gilmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, Pepys MB and Hawkins PN (2000). Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen α-chain variant in an English family. QJM 93, 269-275
-
(2000)
QJM
, vol.93
, pp. 269-275
-
-
Gilmore, J.D.1
Booth, D.R.2
Rela, M.3
Heaton, N.D.4
Rahman, V.5
Stangou, A.J.6
Pepys, M.B.7
Hawkins, P.N.8
-
10
-
-
0029856833
-
The molecular basis of renal amyloidos in Irish-American and Polish-Canadian kindreds
-
Uemichi T, Liepnieks JJ, Alexander F and Benson MD (1996). The molecular basis of renal amyloidos in Irish-American and Polish-Canadian kindreds. QMJ 89, 745-750
-
(1996)
QMJ
, vol.89
, pp. 745-750
-
-
Uemichi, T.1
Liepnieks, J.J.2
Alexander, F.3
Benson, M.D.4
-
11
-
-
0032250834
-
Fibrinogen Aα chain mutation (Arg554Leu) associated with hereditary renal amyloidosis in a French family
-
Asl LH, Fournier V, Billerey C, Justrab E, Chevet D, Droz D, Pécheux C, Delpech M and Grateau G (1998). Fibrinogen Aα chain mutation (Arg554Leu) associated with hereditary renal amyloidosis in a French family. Amyloid: Int J Exp Clin Invest 5, 279-284
-
(1998)
Amyloid: Int J Exp Clin Invest
, vol.5
, pp. 279-284
-
-
Asl, L.H.1
Fournier, V.2
Billerey, C.3
Justrab, E.4
Chevet, D.5
Droz, D.6
Pécheux, C.7
Delpech, M.8
Grateau, G.9
-
13
-
-
0034082676
-
Highly sensitive diagnosis of amyloid and various amyloid syndromes using Congo red fluorescence
-
Linke RP (2000). Highly sensitive diagnosis of amyloid and various amyloid syndromes using Congo red fluorescence. Virchows Arch 436, 439-48
-
(2000)
Virchows Arch
, vol.436
, pp. 439-448
-
-
Linke, R.P.1
-
14
-
-
0023098829
-
Beta 2-microglobulin, different fragments and polymers thereof in synovial amyloid in long-term hemodialysis
-
Linke RP, Hampl H, Bartl-Schwarze S and Eulitz M (1987). Beta 2-microglobulin, different fragments and polymers thereof in synovial amyloid in long-term hemodialysis. Biol Chem Hoppe Seyler 368, 137-144
-
(1987)
Biol Chem Hoppe Seyler
, vol.368
, pp. 137-144
-
-
Linke, R.P.1
Hampl, H.2
Bartl-Schwarze, S.3
Eulitz, M.4
-
15
-
-
0020308777
-
Immunohistochemical identification and cross reactions of amyloid fibril proteins in senile heart and amyloid in familial polyneuropathy. Lack of reactivity with cerebral amyloid in Alzheimer's disease
-
Linke RP (1982). Immunohistochemical identification and cross reactions of amyloid fibril proteins in senile heart and amyloid in familial polyneuropathy. Lack of reactivity with cerebral amyloid in Alzheimer's disease. Clin Neuropathol 1, 172-182
-
(1982)
Clin Neuropathol
, vol.1
, pp. 172-182
-
-
Linke, R.P.1
-
17
-
-
0018132828
-
Cardiovascular reflexes and autonomic neuropathy
-
Ewing DJ (1978). Cardiovascular reflexes and autonomic neuropathy. Clin Sci Mol Med 55, 321-327
-
(1978)
Clin Sci Mol Med
, vol.55
, pp. 321-327
-
-
Ewing, D.J.1
-
18
-
-
0027938911
-
Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type
-
Ducla-Soares JL, Alves MM, de Carvalho M, Póvoa P, Conceição I and Sales-Luís ML (1994). Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type. Acta Neurol Scand 90, 266-269
-
(1994)
Acta Neurol Scand
, vol.90
, pp. 266-269
-
-
Ducla-Soares, J.L.1
Alves, M.M.2
De Carvalho, M.3
Póvoa, P.4
Conceição, I.5
Sales-Luís, M.L.6
-
19
-
-
0028348075
-
Radiolabelled metaiodobenzylguanidina in assessment of autonomic dysfunction
-
Ando Y, Obayashi K, Tanaka Y, Tsuji T, Uchino M, Takahashi M and Ando M (1994). Radiolabelled metaiodobenzylguanidina in assessment of autonomic dysfunction. Lancet 16, 984-985
-
(1994)
Lancet
, vol.16
, pp. 984-985
-
-
Ando, Y.1
Obayashi, K.2
Tanaka, Y.3
Tsuji, T.4
Uchino, M.5
Takahashi, M.6
Ando, M.7
-
20
-
-
0031033993
-
Iodine-123 metaiodobenzylguanidina scintigraphic assessment of myocardial sympathetic innervation in patients with familial amyloid polyneuropathy
-
Tanaka M, Hongo M, Kinoshita O, Takabayashi Y, Fujii T, Yazaki Y, Isobe M and Sekigushi M (1997). Iodine-123 metaiodobenzylguanidina scintigraphic assessment of myocardial sympathetic innervation in patients with familial amyloid polyneuropathy. J Am Coll Cardiol 29, 168-174
-
(1997)
J Am Coll Cardiol
, vol.29
, pp. 168-174
-
-
Tanaka, M.1
Hongo, M.2
Kinoshita, O.3
Takabayashi, Y.4
Fujii, T.5
Yazaki, Y.6
Isobe, M.7
Sekigushi, M.8
-
21
-
-
0033933031
-
New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy
-
de Carvalho M, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R and Saraiva MJ (2000). New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. Muscle Nerve 23, 1016-1021
-
(2000)
Muscle Nerve
, vol.23
, pp. 1016-1021
-
-
De Carvalho, M.1
Moreira, P.2
Evangelista, T.3
Ducla-Soares, J.L.4
Bento, M.5
Fernandes, R.6
Saraiva, M.J.7
-
22
-
-
0037030662
-
Sporadic cases of hereditary systemic amyloidosis
-
Saraiva MJ (2002). Sporadic cases of hereditary systemic amyloidosis. N Engl J Med 346, 1818-1819
-
(2002)
N Engl J Med
, vol.346
, pp. 1818-1819
-
-
Saraiva, M.J.1
-
23
-
-
0037030659
-
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis
-
Lachman HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, Pepys MB and Hawkins PN (2002). Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. New Engl J Med 346, 1786-1791
-
(2002)
New Engl J Med
, vol.346
, pp. 1786-1791
-
-
Lachman, H.J.1
Booth, D.R.2
Booth, S.E.3
Bybee, A.4
Gilbertson, J.A.5
Gillmore, J.D.6
Pepys, M.B.7
Hawkins, P.N.8
-
24
-
-
0024605634
-
Peripheral nerve pathological findings in familial amyloid polyneuropathy: A correlative study of proximal sciatic nerve and sural nerve lesion
-
Hanyu N, Ikeda S, Nakadai A, Yanagisawa N and Powell HC (1989). Peripheral nerve pathological findings in familial amyloid polyneuropathy: a correlative study of proximal sciatic nerve and sural nerve lesion. Ann Neurol 25, 340-350
-
(1989)
Ann Neurol
, vol.25
, pp. 340-350
-
-
Hanyu, N.1
Ikeda, S.2
Nakadai, A.3
Yanagisawa, N.4
Powell, H.C.5
-
25
-
-
0023091943
-
Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients
-
Ikeda S, Hanyu N, Kongo M, Yoshioka J, Oguchi H, Yanagisawa N, Kobayashi T, Tsukagoshi H, Ito N and Yokota T (1987). Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 110, 315-337
-
(1987)
Brain
, vol.110
, pp. 315-337
-
-
Ikeda, S.1
Hanyu, N.2
Kongo, M.3
Yoshioka, J.4
Oguchi, H.5
Yanagisawa, N.6
Kobayashi, T.7
Tsukagoshi, H.8
Ito, N.9
Yokota, T.10
-
26
-
-
0242707813
-
Familial amyloid polineuropathies
-
Vinken PJ, Bruyn GW and Klawans HL (eds). (Amsterdam: Elsevier)
-
Stauton H (1991). Familial amyloid polineuropathies: In Vinken PJ, Bruyn GW and Klawans HL (eds) Handbook of clinical neurology, vol 60, pp. 89-115 (Amsterdam: Elsevier)
-
(1991)
Handbook of Clinical Neurology
, vol.60
, pp. 89-115
-
-
Stauton, H.1
-
27
-
-
0021326663
-
Monoclonal antibodies against amyloid fibril protein AA. Production, specificity, and use for immunohistochemical localization and classification of AA-type amyloidosis
-
Linke RP (1984). Monoclonal antibodies against amyloid fibril protein AA. Production, specificity, and use for immunohistochemical localization and classification of AA-type amyloidosis. J Histochem Cytochem 32, 322-328
-
(1984)
J Histochem Cytochem
, vol.32
, pp. 322-328
-
-
Linke, R.P.1
-
28
-
-
0019129639
-
Classification of amyloidoses at biopsy by the immunoperoxidase method
-
Linke RP and Nathrath WBJ (1980). Classification of amyloidoses at biopsy by the immunoperoxidase method. MMW Munch Med Wochenschr 122, 1772-1776
-
(1980)
MMW Munch Med Wochenschr
, vol.122
, pp. 1772-1776
-
-
Linke, R.P.1
Nathrath, W.B.J.2
|