-
1
-
-
1842416632
-
On a new degenerative disorder of the central nervous system, inherited in an autosomal dominate mode and affecting people of Azorean extraction
-
Coutinho P, Calheiros JM, Andrade C. On a new degenerative disorder of the central nervous system, inherited in an autosomal dominate mode and affecting people of Azorean extraction. Medico 1997;82:446-448.
-
(1997)
Medico
, vol.82
, pp. 446-448
-
-
Coutinho, P.1
Calheiros, J.M.2
Andrade, C.3
-
2
-
-
0028859878
-
Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
-
Rosenberg RN. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 1995;45:1-5.
-
(1995)
Neurology
, vol.45
, pp. 1-5
-
-
Rosenberg, R.N.1
-
3
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerbellar ataxia type I
-
Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerbellar ataxia type I. Nat Genet 1993;4:221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
-
4
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-284.
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
-
5
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:284-290.
-
(1996)
Nat Genet
, vol.14
, pp. 284-290
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
-
6
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-2716.
-
(1996)
Nat Genet
, vol.14
, pp. 269-2716
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
7
-
-
0028143527
-
CAG expansions in a novel gene from Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene from Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-227.
-
(1994)
Nat Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
8
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
9
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
-
11
-
-
0027176364
-
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
-
Andrew SE, Goldberg YP, Kremer B, et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 1993;4:398-403.
-
(1993)
Nat Genet
, vol.4
, pp. 398-403
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Kremer, B.3
-
12
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosome
-
Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosome. Cell 1993;72:971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
13
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-palli-doluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-palli-doluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
-
14
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994;6:14-18.
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
-
15
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
16
-
-
0033070196
-
Biological implication of the DNA structure associated with disease-causing triplet repeats
-
Sinden RR. Biological implication of the DNA structure associated with disease-causing triplet repeats. Am J Hum Gene 1999;64:346-353.
-
(1999)
Am J Hum Gene
, vol.64
, pp. 346-353
-
-
Sinden, R.R.1
-
17
-
-
0034988714
-
Intermediate CAG repeat lengths (53. 54) for MJD/SCA3 are associated with an abnormal phenotype
-
Van Alfen N, Sinke RJ, Zwarts MJ, et al. Intermediate CAG repeat lengths (53. 54) for MJD/SCA3 are associated with an abnormal phenotype. Ann Neurol 2001;49:805-807.
-
(2001)
Ann Neurol
, vol.49
, pp. 805-807
-
-
Van Alfen, N.1
Sinke, R.J.2
Zwarts, M.J.3
-
18
-
-
10344262014
-
Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease
-
Lopes-Cendes I, Silveira I, Maciel P, et al. Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease. Arch Neurol 1996;53:1168-1174.
-
(1996)
Arch Neurol
, vol.53
, pp. 1168-1174
-
-
Lopes-Cendes, I.1
Silveira, I.2
Maciel, P.3
-
19
-
-
0028141691
-
A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
-
Takiyama Y, Oyanagi S, Kawashima S, et al. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 1994;44:1302-1308.
-
(1994)
Neurology
, vol.44
, pp. 1302-1308
-
-
Takiyama, Y.1
Oyanagi, S.2
Kawashima, S.3
-
20
-
-
0033119123
-
Nuclear and neuropil aggregates in Huntington's disease: Relationship to neuropathology
-
Gutekunst CA, Li SH, Yi H, et al. Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. J Neurosci 1999;19:2522-2534.
-
(1999)
J Neurosci
, vol.19
, pp. 2522-2534
-
-
Gutekunst, C.A.1
Li, S.H.2
Yi, H.3
-
21
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997;19:333-344.
-
(1997)
Neuron
, vol.19
, pp. 333-344
-
-
Paulson, H.L.1
Perez, M.K.2
Trottier, Y.3
-
23
-
-
0026602165
-
Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction
-
Ko TM, Tseng LH, Hsieh FJ, Hsu PM, Lee TY. Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction. Hum Genet 1992;88:245-248.
-
(1992)
Hum Genet
, vol.88
, pp. 245-248
-
-
Ko, T.M.1
Tseng, L.H.2
Hsieh, F.J.3
Hsu, P.M.4
Lee, T.Y.5
-
24
-
-
0031575946
-
Machado-Joseph disease gene product identified in lymphocytes and brain
-
Wang G, Ide K, Nukina N, et al. Machado-Joseph disease gene product identified in lymphocytes and brain. Biochem Biophys Res Comm 1997;233:476-479.
-
(1997)
Biochem Biophys Res Comm
, vol.233
, pp. 476-479
-
-
Wang, G.1
Ide, K.2
Nukina, N.3
-
25
-
-
0030788197
-
Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan
-
Hsieh M, Tsai HF, Lu TM, Yang CY, Wu HM, Li SY. Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan. Hum Genet 1997;100:155-162.
-
(1997)
Hum Genet
, vol.100
, pp. 155-162
-
-
Hsieh, M.1
Tsai, H.F.2
Lu, T.M.3
Yang, C.Y.4
Wu, H.M.5
Li, S.Y.6
-
26
-
-
17644449057
-
Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis
-
Sequeiros J, Maciel P, Taborda F, et al. Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis. Prenat Diagn 1998;18:611-617.
-
(1998)
Prenat Diagn
, vol.18
, pp. 611-617
-
-
Sequeiros, J.1
Maciel, P.2
Taborda, F.3
-
27
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
-
Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995;4:807-812.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 807-812
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
-
28
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996;19:196-201.
-
(1996)
Nat Genet
, vol.19
, pp. 196-201
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
29
-
-
0033499931
-
Analysis of the role of heat shock protein molecular chaperones in polyglutamin disease
-
Chai Y, Koppenhafer SL, Paulson HL. Analysis of the role of heat shock protein molecular chaperones in polyglutamin disease. J Neurosci 1999;19:10338-10347.
-
(1999)
J Neurosci
, vol.19
, pp. 10338-10347
-
-
Chai, Y.1
Koppenhafer, S.L.2
Paulson, H.L.3
-
30
-
-
0034756334
-
Improvement in the molecular diagnosis of Machado-Joseph disease
-
Maciel P, Costa MC, Ferro A, et al. Improvement in the molecular diagnosis of Machado-Joseph disease. Arch Neurol 2001;58:1821-1827.
-
(2001)
Arch Neurol
, vol.58
, pp. 1821-1827
-
-
Maciel, P.1
Costa, M.C.2
Ferro, A.3
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