-
2
-
-
22844447647
-
Transthyretin-related familial amyloidotic polyneuropathy
-
Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005;62:1057-1062.
-
(2005)
Arch Neurol
, vol.62
, pp. 1057-1062
-
-
Ando, Y.1
Nakamura, M.2
Araki, S.3
-
3
-
-
0242407579
-
Tabulation of human transthyretin (TTR) variants, 2003
-
Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003;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
-
4
-
-
0028281999
-
A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected
-
Coelho T, Sousa A, Lourenco 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
Lourenco, E.3
Ramalheira, J.4
-
5
-
-
0042830434
-
Hereditary transthyretin amyloidosis from a Scandinavian perspective
-
Suhr OB, Svendsen IH, Andersson R, Danielsson A, Holmgren G, Ranlov PJ. Hereditary transthyretin amyloidosis from a Scandinavian perspective. J Intern Med 2003;254:225-235.
-
(2003)
J Intern Med
, vol.254
, pp. 225-235
-
-
Suhr, O.B.1
Svendsen, I.H.2
Andersson, R.3
Danielsson, A.4
Holmgren, G.5
Ranlov, P.J.6
-
6
-
-
0037046222
-
Familial transthyretin-type amyloid polyneuropathy in Japan: Clinical and genetic heterogeneity
-
Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002;58:1001-1007.
-
(2002)
Neurology
, vol.58
, pp. 1001-1007
-
-
Ikeda, S.1
Nakazato, M.2
Ando, Y.3
Sobue, G.4
-
7
-
-
0344074661
-
Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy
-
Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, Said G. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 1998;51:708-714.
-
(1998)
Neurology
, vol.51
, pp. 708-714
-
-
Plante-Bordeneuve, V.1
Lalu, T.2
Misrahi, M.3
Reilly, M.M.4
Adams, D.5
Lacroix, C.6
Said, G.7
-
8
-
-
0031028712
-
Variant-sequence 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. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. New Engl J Med 1997;336:466-473.
-
(1997)
New 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
-
9
-
-
11344294009
-
Cardiac amyloidosis. Heterogeneous pathogenic backgrounds
-
Ikeda S. Cardiac amyloidosis. Heterogeneous pathogenic backgrounds. Intern Med 2004;43:1107-1114.
-
(2004)
Intern Med
, vol.43
, pp. 1107-1114
-
-
Ikeda, S.1
-
10
-
-
25444434458
-
Diagnosis and management of the cardiac amyloidosis
-
Falk HR. Diagnosis and management of the cardiac amyloidosis. Circulation 2005;112:2047-2060.
-
(2005)
Circulation
, vol.112
, pp. 2047-2060
-
-
Falk, H.R.1
-
12
-
-
0032558120
-
Progressive cardiac amyloidosis following liver transplantation for amyloid polyneuropathy
-
Stangou AJ, Hawkins PN, Heaton ND, Rela M, Monaghan M, Nihoyannopoulos P, O'Grady J, Pepys MB, Williams R. Progressive cardiac amyloidosis following liver transplantation for amyloid polyneuropathy. Transplantation 1998;66:229-233.
-
(1998)
Transplantation
, vol.66
, pp. 229-233
-
-
Stangou, A.J.1
Hawkins, P.N.2
Heaton, N.D.3
Rela, M.4
Monaghan, M.5
Nihoyannopoulos, P.6
O'Grady, J.7
Pepys, M.B.8
Williams, R.9
-
13
-
-
10744226165
-
Outcome of liver transplantation for familial amyloidotic polyneuropathy
-
Sharma P, Perri RE, Sirven JE, Zeldenrust SR, Brandhagen DJ, Rosen CB, Douglas DD, Mulligan DC, Rakela J, Wiesner RH, Balan V. Outcome of liver transplantation for familial amyloidotic polyneuropathy. Liver Transplant 2003;9:1273-1280.
-
(2003)
Liver Transplant
, vol.9
, pp. 1273-1280
-
-
Sharma, P.1
Perri, R.E.2
Sirven, J.E.3
Zeldenrust, S.R.4
Brandhagen, D.J.5
Rosen, C.B.6
Douglas, D.D.7
Mulligan, D.C.8
Rakela, J.9
Wiesner, R.H.10
Balan, V.11
-
14
-
-
1642476795
-
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy
-
Hattori T, Takei Y, Koyama J, Nakazato M, Ikeda S. Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. Amyloid 2003;10: 229-239.
-
(2003)
Amyloid
, vol.10
, pp. 229-239
-
-
Hattori, T.1
Takei, Y.2
Koyama, J.3
Nakazato, M.4
Ikeda, S.5
-
15
-
-
0026687696
-
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis
-
Ferlini A, Fini S, Salvi F, Patrosso MC, Vezzoni P, Forabosco A. Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. FASEB J 1992;6:2864-2866.
-
(1992)
FASEB J
, vol.6
, pp. 2864-2866
-
-
Ferlini, A.1
Fini, S.2
Salvi, F.3
Patrosso, M.C.4
Vezzoni, P.5
Forabosco, A.6
-
16
-
-
0002470418
-
Forty years of experience with type I amyloid neuropathy
-
Glenner GG, Costa PP, Freitas AF, editors. Amsterdam: Excerpta Medica
-
Coutinho P, Martins da Silva A, Lopes Lima J, Resende Barbosa A. Forty years of experience with type I amyloid neuropathy. In: Glenner GG, Costa PP, Freitas AF, editors. Amyloid and amyloidosis. Amsterdam: Excerpta Medica; 1980, pp 88-98.
-
(1980)
Amyloid and Amyloidosis
, pp. 88-98
-
-
Coutinho, P.1
Martins Da Silva, A.2
Lopes Lima, J.3
Resende Barbosa, A.4
-
17
-
-
0022588019
-
Echocardiographic assessment of left ventricular hypertrophy: Comparison to necropsy findings
-
Devereux RB, Alonso DR, Lutas EM, Gottlieb GJ, Campo E, Sachs I, Reichek N. Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 1986;57:450-458.
-
(1986)
Am J Cardiol
, vol.57
, pp. 450-458
-
-
Devereux, R.B.1
Alonso, D.R.2
Lutas, E.M.3
Gottlieb, G.J.4
Campo, E.5
Sachs, I.6
Reichek, N.7
-
18
-
-
0032192138
-
New Doppler echocardiographic applications for the study of diastolic function
-
Garcia MJ, Thomas JD, Klein AL. New Doppler echocardiographic applications for the study of diastolic function. J Am Coll Cardiol 1998;32:865-875.
-
(1998)
J Am Coll Cardiol
, vol.32
, pp. 865-875
-
-
Garcia, M.J.1
Thomas, J.D.2
Klein, A.L.3
-
19
-
-
0032753620
-
Comparison of usefulness between exercise capacity and echocardiographic indexes of left ventricular function in cardiac amyloidosis
-
Trikas A, Rallidis L, Hawkins P, Oakley CM, Nihoyannopoulos P. Comparison of usefulness between exercise capacity and echocardiographic indexes of left ventricular function in cardiac amyloidosis. Am J Cardiol 1999;84:1049-1054.
-
(1999)
Am J Cardiol
, vol.84
, pp. 1049-1054
-
-
Trikas, A.1
Rallidis, L.2
Hawkins, P.3
Oakley, C.M.4
Nihoyannopoulos, P.5
-
20
-
-
0032080010
-
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis
-
Patrosso MC, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A. Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. Am J Med Genet 1998;77:135-138.
-
(1998)
Am J Med Genet
, vol.77
, pp. 135-138
-
-
Patrosso, M.C.1
Salvi, F.2
De Grandis, D.3
Vezzoni, P.4
Jacobson, D.R.5
Ferlini, A.6
-
21
-
-
9044222477
-
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: Clinical, biochemical and molecular findings
-
Ferlini A, Salvi F, Uncini A, el-Chami J, Winter P, Altland K, Repetto M, Littardi M, Campoleoni A, Vezzoni P, Patrosso MC. Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. Clin Genet 1996;49:10-14.
-
(1996)
Clin Genet
, vol.49
, pp. 10-14
-
-
Ferlini, A.1
Salvi, F.2
Uncini, A.3
El-Chami, J.4
Winter, P.5
Altland, K.6
Repetto, M.7
Littardi, M.8
Campoleoni, A.9
Vezzoni, P.10
Patrosso, M.C.11
-
22
-
-
0028356353
-
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis
-
Ferlini A, Patrosso MC, Repetto M, Frattini A, Villa A, Fini S, Salvi F, Vezzoni P, Forabosco A. A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. Hum Mutat 1994;4:61-64.
-
(1994)
Hum Mutat
, vol.4
, pp. 61-64
-
-
Ferlini, A.1
Patrosso, M.C.2
Repetto, M.3
Frattini, A.4
Villa, A.5
Fini, S.6
Salvi, F.7
Vezzoni, P.8
Forabosco, A.9
-
23
-
-
33750315293
-
Motor neuropathy as the unusual clinical presentation of TTR related hereditary amyloidosis (Ile68Leu)
-
Umea, Sweden, June
-
Salvi F, Martinelli P, Meleti S, Ferlini A. Motor neuropathy as the unusual clinical presentation of TTR related hereditary amyloidosis (Ile68Leu). In: Proceedings of the 4th International Symposium on FAP and Other TTR related Disorders. Umea, Sweden, June 1999.
-
(1999)
Proceedings of the 4th International Symposium on FAP and Other TTR Related Disorders
-
-
Salvi, F.1
Martinelli, P.2
Meleti, S.3
Ferlini, A.4
-
24
-
-
11144355964
-
Combined heart and liver transplantation in four adults with familial amyloidosis: Experience of a single center
-
Nardo B, Beltempo P, Bertelli R, Montalti R, Vivarelli M, Cescon M, Grazi GL, Salvi F, Magelli C, Grigioni F, Arpesella G, Martinelli G, Cavallari A. Combined heart and liver transplantation in four adults with familial amyloidosis: experience of a single center. Transplant Proc 2004;36:645-647.
-
(2004)
Transplant Proc
, vol.36
, pp. 645-647
-
-
Nardo, B.1
Beltempo, P.2
Bertelli, R.3
Montalti, R.4
Vivarelli, M.5
Cescon, M.6
Grazi, G.L.7
Salvi, F.8
Magelli, C.9
Grigioni, F.10
Arpesella, G.11
Martinelli, G.12
Cavallari, A.13
-
25
-
-
0242575140
-
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu
-
Salvi F, Scaglione C, Michelucci R, Linke RP, Obici L, Ravani A, Rimessi P, Ferlini A, Meletti S, Cavallaro T, Tassinari CA, Martinelli P. Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. Amyloid 2003;10:185-189.
-
(2003)
Amyloid
, vol.10
, pp. 185-189
-
-
Salvi, F.1
Scaglione, C.2
Michelucci, R.3
Linke, R.P.4
Obici, L.5
Ravani, A.6
Rimessi, P.7
Ferlini, A.8
Meletti, S.9
Cavallaro, T.10
Tassinari, C.A.11
Martinelli, P.12
-
26
-
-
0027023491
-
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis
-
Almeida MR, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, Plasmati R, Tassinari CA, Altland K, Saraiva MJ. Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat 1992;1:211-215.
-
(1992)
Hum Mutat
, vol.1
, pp. 211-215
-
-
Almeida, M.R.1
Ferlini, A.2
Forabosco, A.3
Gawinowicz, M.4
Costa, P.P.5
Salvi, F.6
Plasmati, R.7
Tassinari, C.A.8
Altland, K.9
Saraiva, M.J.10
-
27
-
-
11144237969
-
Comparison of ventricular long-axis function in patients with cardiac amyloidosis versus idiopathic restrictive cardiomyopathy
-
Perugini E, Rapezzi C, Reggiani L, Poole-Wilson P, Branzi A, Henein MY. Comparison of ventricular long-axis function in patients with cardiac amyloidosis versus idiopathic restrictive cardiomyopathy. Am J Cardiology 2005;95: 146-149.
-
(2005)
Am J Cardiology
, vol.95
, pp. 146-149
-
-
Perugini, E.1
Rapezzi, C.2
Reggiani, L.3
Poole-Wilson, P.4
Branzi, A.5
Henein, M.Y.6
-
28
-
-
22144438713
-
Senile systemic amyloidosis presenting with heart failure: A comparison with light chain-associated amyloidosis
-
Ng B, Connors LH, Davidoff R, Skinner M, Falk RH. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med 2005;175:1425-1429.
-
(2005)
Arch Intern Med
, vol.175
, pp. 1425-1429
-
-
Ng, B.1
Connors, L.H.2
Davidoff, R.3
Skinner, M.4
Falk, R.H.5
-
29
-
-
0032558120
-
Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy
-
Stangou AJ, Hawkins PN, Heaton ND, Rela M, Monaghan M, Nihoyannopoulos P, O'Grady J, Pepys MB, Williams R. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy. Transplantation 1998;66:229-233.
-
(1998)
Transplantation
, vol.66
, pp. 229-233
-
-
Stangou, A.J.1
Hawkins, P.N.2
Heaton, N.D.3
Rela, M.4
Monaghan, M.5
Nihoyannopoulos, P.6
O'Grady, J.7
Pepys, M.B.8
Williams, R.9
|