-
1
-
-
0028918944
-
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
-
Pramatrova A, Figlewicz DA, Krizus A, et al. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995;56:592-596.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 592-596
-
-
Pramatrova, A.1
Figlewicz, D.A.2
Krizus, A.3
-
2
-
-
0028916910
-
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
-
Jones CT, Swingler RJ, Simpson SA, Brock DJH. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Gen 1995;32:290-292.
-
(1995)
J Med Gen
, vol.32
, pp. 290-292
-
-
Jones, C.T.1
Swingler, R.J.2
Simpson, S.A.3
Brock, D.J.H.4
-
3
-
-
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
-
4
-
-
0028952350
-
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motor neuron disorders
-
Ferlini A, Patrosso MC, Guidetti D, et al. Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motor neuron disorders. Am J Med Genet 1995;55:105-111.
-
(1995)
Am J Med Genet
, vol.55
, pp. 105-111
-
-
Ferlini, A.1
Patrosso, M.C.2
Guidetti, D.3
-
5
-
-
0026653404
-
Criteria for diagnosis of familial amyotrophic lateral sclerosis
-
Swash M, Leigh N. Criteria for diagnosis of familial amyotrophic lateral sclerosis. Neuromuscul Disord 1992;2:7-9.
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 7-9
-
-
Swash, M.1
Leigh, N.2
-
6
-
-
0027202177
-
Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis
-
Garofalo O, Figlewicz DA, Leigh PN, et al. Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis. Neuromuscul Disord 1993;3:195-199.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 195-199
-
-
Garofalo, O.1
Figlewicz, D.A.2
Leigh, P.N.3
-
7
-
-
0024586435
-
X-linked recessive bulbospinal neuronopathy: A clinicopathological study
-
Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy: a clinicopathological study. Brain 1989;112:209-232.
-
(1989)
Brain
, vol.112
, pp. 209-232
-
-
Sobue, G.1
Hashizume, Y.2
Mukai, E.3
Hirayama, M.4
Mitsuma, T.5
Takahashi, A.6
-
8
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
9
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
10
-
-
0026621091
-
Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy
-
Igarashi S, Tanno Y, Onodera O, et al. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 1992;42:2300-2302.
-
(1992)
Neurology
, vol.42
, pp. 2300-2302
-
-
Igarashi, S.1
Tanno, Y.2
Onodera, O.3
-
11
-
-
0027023516
-
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Roling DB, Harding AE, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 1992;2:301-304.
-
(1992)
Nat Genet
, vol.2
, pp. 301-304
-
-
La Spada, A.R.1
Roling, D.B.2
Harding, A.E.3
-
12
-
-
0027745692
-
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
-
Zühlke G, Riess O, Bockel B, Lange H, Thies U. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum Mol Genet 1993;2:2063-2067.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2063-2067
-
-
Zühlke, G.1
Riess, O.2
Bockel, B.3
Lange, H.4
Thies, U.5
-
13
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph's disease
-
Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph's disease. Am J Hum Genet 1995;57:54-61.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 54-61
-
-
Maciel, P.1
Gaspar, C.2
DeStefano, A.L.3
-
14
-
-
0020457362
-
X-linked recessive bulbospinal neuronopathy: A report of ten cases
-
Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR. X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 1982;45:1012-1019.
-
(1982)
J Neurol Neurosurg Psychiatry
, vol.45
, pp. 1012-1019
-
-
Harding, A.E.1
Thomas, P.K.2
Baraitser, M.3
Bradbury, P.G.4
Morgan-Hughes, J.A.5
Ponsford, J.R.6
-
15
-
-
0025735846
-
Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy
-
Olney RK, Aminoff MJ, So YT. Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. Neurology 1991;41:823-828.
-
(1991)
Neurology
, vol.41
, pp. 823-828
-
-
Olney, R.K.1
Aminoff, M.J.2
So, Y.T.3
-
16
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Huntington's disease
-
Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 1993;4:387-392.
-
(1993)
Nat Genet
, vol.4
, pp. 387-392
-
-
Duyao, M.1
Ambrose, C.2
Myers, R.3
-
17
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian 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
-
18
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M-Y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.-Y.2
Banfi, S.3
-
19
-
-
0026456689
-
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
-
Doyu M, Sobue G, Mukai E, et al. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 1992;32:707-710.
-
(1992)
Ann Neurol
, vol.32
, pp. 707-710
-
-
Doyu, M.1
Sobue, G.2
Mukai, E.3
-
20
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu Y-H, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.-H.1
Kuhl, D.P.A.2
Pizzuti, A.3
-
21
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 37′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 37′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
22
-
-
0026894334
-
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy
-
Bianclana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel JL. Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy. Hum Mol Genet 1992;1:255-258.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 255-258
-
-
Bianclana, V.1
Serville, F.2
Pommier, J.3
Julien, J.4
Hanauer, A.5
Mandel, J.L.6
-
23
-
-
0027366138
-
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
-
Mhatre AN, Trifiro MA, Kaufman M, et al. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet 1993;5:184-188.
-
(1993)
Nat Genet
, vol.5
, pp. 184-188
-
-
Mhatre, A.N.1
Trifiro, M.A.2
Kaufman, M.3
-
24
-
-
0028033594
-
The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
-
Chamberlain NL, Driver ED, Miesfeld RL. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 1994;22:3181-3186.
-
(1994)
Nucleic Acids Res
, vol.22
, pp. 3181-3186
-
-
Chamberlain, N.L.1
Driver, E.D.2
Miesfeld, R.L.3
-
25
-
-
0028843242
-
Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy)
-
MacLean HE, Choi W-T, Rekaris G, Warne GL, Zajac JD. Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). J Clin Endocrinol Metab 1995;80:508-516.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 508-516
-
-
MacLean, H.E.1
Choi, W.-T.2
Rekaris, G.3
Warne, G.L.4
Zajac, J.D.5
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