-
1
-
-
0025076810
-
Prenatal diagnosis of familial amyloidotic polyneuropathy: Evidence for an early expression of the associated transthyretin methionine 30
-
Almeida MR, Alves IL, Sakaki Y, Costa PP, Saraiva MJM (1990) Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30. Hum Genet 85:341-346
-
(1990)
Hum Genet
, vol.85
, pp. 341-346
-
-
Almeida, M.R.1
Alves, I.L.2
Sakaki, Y.3
Costa, P.P.4
Saraiva, M.J.M.5
-
2
-
-
77957180065
-
A peculiar form of peripheral neuropathy
-
Andrade C (1952) A peculiar form of peripheral neuropathy. Brain 75:408-427
-
(1952)
Brain
, vol.75
, pp. 408-427
-
-
Andrade, C.1
-
4
-
-
0028787434
-
No evidence for association of familial Parkinson's disease with CAG repeat expansion
-
Carrero-Valenzuela R, Lindblad K, Payami H, Johnson W, et al (1995) No evidence for association of familial Parkinson's disease with CAG repeat expansion. Neurology 45:1060-1063
-
(1995)
Neurology
, vol.45
, pp. 1060-1063
-
-
Carrero-Valenzuela, R.1
Lindblad, K.2
Payami, H.3
Johnson, W.4
-
5
-
-
0028281999
-
A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected
-
Coelho T, Sousa A, Lourenço E, Ramalheira J (1994) A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J Med Genet 31:293-299
-
(1994)
J Med Genet
, vol.31
, pp. 293-299
-
-
Coelho, T.1
Sousa, A.2
Lourenço, E.3
Ramalheira, J.4
-
6
-
-
0002470418
-
Forty years of experience with type I amyloid neuropathy. Review of 483 cases
-
Glenner GG, Costa PP, Freitas AF (eds) Excerpta Medica, Amsterdam
-
Coutinho P, Silva AM, Lima JL, Barbosa AR (1980) Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Glenner GG, Costa PP, Freitas AF (eds) Amyloid and amyloidosis. Excerpta Medica, Amsterdam, pp 88-98
-
(1980)
Amyloid and Amyloidosis
, pp. 88-98
-
-
Coutinho, P.1
Silva, A.M.2
Lima, J.L.3
Barbosa, A.R.4
-
7
-
-
0027241247
-
Familial amyloidotic polyneuropathy in Sweden: A pedigree analysis
-
Drugge U, Andersson R, Chizari F, et al (1993) Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. J Med Genet 30:388-392
-
(1993)
J Med Genet
, vol.30
, pp. 388-392
-
-
Drugge, U.1
Andersson, R.2
Chizari, F.3
-
8
-
-
0031032853
-
Trinucleotide repeats in the human genome: Size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method
-
Hofferbert S, Schanen NC, Chehab F, Francke U (1997a) Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method. Hum Mol Genet 6:77-83
-
(1997)
Hum Mol Genet
, vol.6
, pp. 77-83
-
-
Hofferbert, S.1
Schanen, N.C.2
Chehab, F.3
Francke, U.4
-
10
-
-
0031034894
-
Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
-
Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI et al. (1997) Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 15:298-302
-
(1997)
Nat Genet
, vol.15
, pp. 298-302
-
-
Lafrenière, R.G.1
Rochefort, D.L.2
Chrétien, N.3
Rommens, J.M.4
Cochius, J.I.5
-
11
-
-
0030964106
-
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
-
Lalioti MD, Scott HS, Buresi C, Rossier C, Botanni A, Morris MA, Malafosse A, Antonarakis SE (1997) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847-851
-
(1997)
Nature
, vol.386
, pp. 847-851
-
-
Lalioti, M.D.1
Scott, H.S.2
Buresi, C.3
Rossier, C.4
Botanni, A.5
Morris, M.A.6
Malafosse, A.7
Antonarakis, S.E.8
-
13
-
-
0029240699
-
Detection of expanded CAG repeats in bipolar affective disorder using the repeat detection (RED) method
-
Lindblad K, Nylander P.-O, de Bruyn A, Sourey D, Zander C, et al (1995) Detection of expanded CAG repeats in bipolar affective disorder using the repeat detection (RED) method. Neurobiol Dis 2:55-62
-
(1995)
Neurobiol Dis
, vol.2
, pp. 55-62
-
-
Lindblad, K.1
Nylander, P.-O.2
De Bruyn, A.3
Sourey, D.4
Zander, C.5
-
14
-
-
0030780066
-
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansions: Usefulness and limitations
-
Martorell L, Pujana M, Volpini V, Sanchez A, Joven J, Villela E, Estivill X (1997) The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansions: usefulness and limitations. Hum Mutat 10:486-488
-
(1997)
Hum Mutat
, vol.10
, pp. 486-488
-
-
Martorell, L.1
Pujana, M.2
Volpini, V.3
Sanchez, A.4
Joven, J.5
Villela, E.6
Estivill, X.7
-
15
-
-
0028784037
-
CAG repeat expansions and schizophrenia: Association with disease in females and with early age-at-onset
-
Morris AG, Gaitonde E, McKenna PJ, Mollon JD, Hunt DM (1995) CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset. Hum Mol Genet 4:1957-1961
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1957-1961
-
-
Morris, A.G.1
Gaitonde, E.2
McKenna, P.J.3
Mollon, J.D.4
Hunt, D.M.5
-
16
-
-
0031439034
-
A CAG/CTG expansion in the normal population
-
Nakamoto M, Takebayashi H, Kawaguchy Y, Narumya S, Taniwaki N, et al (1997) A CAG/CTG expansion in the normal population. Nat Genet 17:385-386
-
(1997)
Nat Genet
, vol.17
, pp. 385-386
-
-
Nakamoto, M.1
Takebayashi, H.2
Kawaguchy, Y.3
Narumya, S.4
Taniwaki, N.5
-
17
-
-
0029355769
-
Expanded CAG repeats in schizophrenia and bipolar disorder
-
O'Donovan MC, Guy C, Murphy KC, Cardno AG, Jones LA, Owen MJ, McGuffin P (1995) Expanded CAG repeats in schizophrenia and bipolar disorder. Nat Genet 10:380-381
-
(1995)
Nat Genet
, vol.10
, pp. 380-381
-
-
O'Donovan, M.C.1
Guy, C.2
Murphy, K.C.3
Cardno, A.G.4
Jones, L.A.5
Owen, M.J.6
McGuffin, P.7
-
18
-
-
0029883805
-
Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci
-
Pearson CE, Sinden RR (1996) Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35:5041-5053
-
(1996)
Biochemistry
, vol.35
, pp. 5041-5053
-
-
Pearson, C.E.1
Sinden, R.R.2
-
19
-
-
78651024089
-
The problem of anticipation in pedigrees of dystrophia myotonia
-
Penrose LS (1948) The problem of anticipation in pedigrees of dystrophia myotonia. Ann Eug 14:125-132
-
(1948)
Ann Eug
, vol.14
, pp. 125-132
-
-
Penrose, L.S.1
-
20
-
-
0024791638
-
Human transthyretin (prealbumin) gene and molecular genetics of familial amyloidotic polyneuropathy
-
Sakaki Y, Yoshioka K, Tanahashi H, Furuya H, Sasaki H (1989) Human transthyretin (prealbumin) gene and molecular genetics of familial amyloidotic polyneuropathy. Mol Biol Med 6:161-168
-
(1989)
Mol Biol Med
, vol.6
, pp. 161-168
-
-
Sakaki, Y.1
Yoshioka, K.2
Tanahashi, H.3
Furuya, H.4
Sasaki, H.5
-
21
-
-
0030307672
-
Molecular genetics of familial amyloidotic polyneuropathy
-
Saraiva MJM (1996) Molecular genetics of familial amyloidotic polyneuropathy. J Peripheral Nervous System 1:1-9
-
(1996)
J Peripheral Nervous System
, vol.1
, pp. 1-9
-
-
Saraiva, M.J.M.1
-
22
-
-
0023002761
-
Genetic expression of a transthyretin mutation (prealbumin) in Portuguese families with familial amyloidotic polyneuropathy in typical and late onset cases
-
Saraiva MJM, Costa PP, Goodman DS (1986) Genetic expression of a transthyretin mutation (prealbumin) in Portuguese families with familial amyloidotic polyneuropathy in typical and late onset cases. Neurology 36:1413-1417
-
(1986)
Neurology
, vol.36
, pp. 1413-1417
-
-
Saraiva, M.J.M.1
Costa, P.P.2
Goodman, D.S.3
-
23
-
-
0027256423
-
Direct detection of novel expanded trinucleotide repeats in the human genome
-
Schalling M, Hudson TJ, Buetow KH, Housman DE (1993) Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 4:135-139
-
(1993)
Nat Genet
, vol.4
, pp. 135-139
-
-
Schalling, M.1
Hudson, T.J.2
Buetow, K.H.3
Housman, D.E.4
-
24
-
-
0342453937
-
Repeat expansion detection using Ampligase thermostable DNA ligase
-
Sirugo G, Kidd KK (1995) Repeat expansion detection using Ampligase thermostable DNA ligase. Epicentre Forum 2:1-3
-
(1995)
Epicentre Forum
, vol.2
, pp. 1-3
-
-
Sirugo, G.1
Kidd, K.K.2
-
25
-
-
0031055870
-
Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: Total genome scan in populations using the repeat expansion detection method
-
Sirugo G, Deinard AS, Kidd JR, Kidd KK (1997) Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: total genome scan in populations using the repeat expansion detection method. Hum Mol Genet 6:403-408
-
(1997)
Hum Mol Genet
, vol.6
, pp. 403-408
-
-
Sirugo, G.1
Deinard, A.S.2
Kidd, J.R.3
Kidd, K.K.4
-
27
-
-
0002184993
-
Anticipation of age of onset in familial amyloidotic polyneuropathy (Portuguese type)
-
Natvig JB, Forre O, Husby G, Husebekk A, Skogen B, Sletten K, Westermark P (eds) Kluwer, Dordrecht
-
Sousa A, Coelho T, Lobato L, Sequeiros J (1990) Anticipation of age of onset in familial amyloidotic polyneuropathy (Portuguese type). In: Natvig JB, Forre O, Husby G, Husebekk A, Skogen B, Sletten K, Westermark P (eds) Amyloid and amyloidosis. Kluwer, Dordrecht, pp 694-697
-
(1990)
Amyloid and Amyloidosis
, pp. 694-697
-
-
Sousa, A.1
Coelho, T.2
Lobato, L.3
Sequeiros, J.4
-
28
-
-
0027275791
-
Familial amyloidotic polyneuropathy in Sweden: Geographical distribution, age of onset, and prevalence
-
Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O (1993) Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 43:288-294
-
(1993)
Hum Hered
, vol.43
, pp. 288-294
-
-
Sousa, A.1
Andersson, R.2
Drugge, U.3
Holmgren, G.4
Sandgren, O.5
-
29
-
-
0029562263
-
Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal)
-
Sousa A, Coelho T, Barros J, Sequeiros J (1995) Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 60:512-521
-
(1995)
Am J Med Genet
, vol.60
, pp. 512-521
-
-
Sousa, A.1
Coelho, T.2
Barros, J.3
Sequeiros, J.4
-
30
-
-
0029349120
-
Changes in the age of onset in patients with familial amyloidotic polyneuropathy type I
-
Tashima K, Ando Y, Tanaka Y, Uchino M, Ando M (1995) Changes in the age of onset in patients with familial amyloidotic polyneuropathy type I. Intern Med 34:148-150
-
(1995)
Intern Med
, vol.34
, pp. 148-150
-
-
Tashima, K.1
Ando, Y.2
Tanaka, Y.3
Uchino, M.4
Ando, M.5
-
31
-
-
0029921128
-
The expanding world of trinucleotide repeats
-
Warren ST (1996) The expanding world of trinucleotide repeats. Science 271:1374-1375
-
(1996)
Science
, vol.271
, pp. 1374-1375
-
-
Warren, S.T.1
-
32
-
-
0031970460
-
A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy
-
Yamamoto K, Ikeda S, Hanyu N, Takeda S, Yanagisawa N (1998) A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. J Med Genet 35:23-30
-
(1998)
J Med Genet
, vol.35
, pp. 23-30
-
-
Yamamoto, K.1
Ikeda, S.2
Hanyu, N.3
Takeda, S.4
Yanagisawa, N.5
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