-
1
-
-
0029089172
-
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
-
Ross CA. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 1995;15:493-6.
-
(1995)
Neuron
, vol.15
, pp. 493-496
-
-
Ross, C.A.1
-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
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;72:971-83.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
3
-
-
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
-
4
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-6.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
-
5
-
-
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;352:77-9.
-
(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
-
6
-
-
0029035306
-
Retinal photoreceptor dystrophies
-
Edward Jackson Memorial Lecture
-
Bird AC. Retinal photoreceptor dystrophies. Edward Jackson Memorial Lecture. Am J Ophthalmol 1995;119:543-62.
-
(1995)
Am J Ophthalmol
, vol.119
, pp. 543-562
-
-
Bird, A.C.1
-
7
-
-
0028607407
-
Recent advances in the gene map of inherited eye disorders: Primary hereditary diseases of the retina, choroid, and vitreous
-
Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP. Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. J Med Genet 1994;31:903-15.
-
(1994)
J Med Genet
, vol.31
, pp. 903-915
-
-
Rosenfeld, P.J.1
McKusick, V.A.2
Amberger, J.S.3
Dryja, T.P.4
-
8
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-8.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
9
-
-
0029088343
-
Molecular genetics of retinitis pigmentosa
-
Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995;4:1739-43.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1739-1743
-
-
Dryja, T.P.1
Li, T.2
-
10
-
-
0025105161
-
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
-
Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-6.
-
(1990)
Nature
, vol.343
, pp. 364-366
-
-
Dryja, T.P.1
McGee, T.L.2
Reichel, E.3
-
11
-
-
0025720710
-
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
-
Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991;354:480-3.
-
(1991)
Nature
, vol.354
, pp. 480-483
-
-
Kajiwara, K.1
Hahn, L.B.2
Mukai, S.3
Travis, G.H.4
Berson, E.L.5
Dryja, T.P.6
-
12
-
-
0025721075
-
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
-
Farrar GJ, Kenna P, Jordan SA, et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 1991;354:478-80.
-
(1991)
Nature
, vol.354
, pp. 478-480
-
-
Farrar, G.J.1
Kenna, P.2
Jordan, S.A.3
-
13
-
-
0027256423
-
Direct detection of novel expanded trinucleotide repeats in the human genome
-
Schalling M, Hudson TJ, Buetow KH, Housman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 1993;4:135-9.
-
(1993)
Nat Genet
, vol.4
, pp. 135-139
-
-
Schalling, M.1
Hudson, T.J.2
Buetow, K.H.3
Housman, D.E.4
-
14
-
-
0027309259
-
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p
-
Inglehearn CF, Carter SA, Keen TJ, et al. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet 1993;4:51-3.
-
(1993)
Nat Genet
, vol.4
, pp. 51-53
-
-
Inglehearn, C.F.1
Carter, S.A.2
Keen, T.J.3
-
15
-
-
0029143376
-
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
-
Bardien S, Ebenezer N, Greenberg J, et al. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum Mol Genet 1995;4:1459-62.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1459-1462
-
-
Bardien, S.1
Ebenezer, N.2
Greenberg, J.3
-
16
-
-
0028123295
-
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
-
Al-Maghtheh M, Inglehearn CF, Keen TJ, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 1994;3:351-4.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 351-354
-
-
Al-Maghtheh, M.1
Inglehearn, C.F.2
Keen, T.J.3
-
17
-
-
0029151529
-
Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q
-
Evans K, Al-Maghtheh M, Fitzke FW, et al. Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. Br J Ophthalmol 1995;79:841-6.
-
(1995)
Br J Ophthalmol
, vol.79
, pp. 841-846
-
-
Evans, K.1
Al-Maghtheh, M.2
Fitzke, F.W.3
-
18
-
-
0028918439
-
Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression
-
Kim RY, Fitzke FW, Moore AT, et al. Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression. Br J Ophthalmol 1995;79:23-7.
-
(1995)
Br J Ophthalmol
, vol.79
, pp. 23-27
-
-
Kim, R.Y.1
Fitzke, F.W.2
Moore, A.T.3
-
19
-
-
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. CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset. Hum Mol Genet 1995;4:1957-61.
-
(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
-
20
-
-
0029988921
-
Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability
-
Takano H, Onodera O, Takahashi H, et al. Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability. Am J Hum Genet 1996;58:1212-22.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1212-1222
-
-
Takano, H.1
Onodera, O.2
Takahashi, H.3
-
21
-
-
0029355769
-
Expanded CAG repeats in schizophrenia and bipolar disorder
-
O'Donovan MC, Guy C, Craddock N, et al. Expanded CAG repeats in schizophrenia and bipolar disorder. Nat Genet 1995;10:380-1.
-
(1995)
Nat Genet
, vol.10
, pp. 380-381
-
-
O'Donovan, M.C.1
Guy, C.2
Craddock, N.3
-
22
-
-
0029240699
-
Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method
-
Lindblad K, Nylander PO, De Bruyn A, et al. Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol Dis 1995;2:55-62.
-
(1995)
Neurobiol Dis
, vol.2
, pp. 55-62
-
-
Lindblad, K.1
Nylander, P.O.2
De Bruyn, A.3
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