-
1
-
-
0027176364
-
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington disease
-
Andrew S.E., Goldberg Y.P., Kremer H.P.H. et al. (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington disease. Nat Gen. 4, 398-403.
-
(1993)
Nat Gen
, vol.4
, pp. 398-403
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Kremer, H.P.H.3
-
2
-
-
23444451921
-
Huntington disease without CAG expansion: Phenocopies or errors in assignment?
-
Andrew S.E., Goldberg Y.P., Kremer H.P.H. et al. (1994a) Huntington disease without CAG expansion: Phenocopies or errors in assignment? Am.J. Hum. Genet. 54, 852-863.
-
(1994)
Am.J. Hum. Genet.
, vol.54
, pp. 852-863
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Kremer, H.P.H.3
-
3
-
-
0028177342
-
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing
-
Andrew S.E., Goldberg Y.P., Theilmann J., Zeisler J. & Hayden M.R. (1994b) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing. Hum. Mol. Genet. 3, 65-67.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 65-67
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Theilmann, J.3
Zeisler, J.4
Hayden, M.R.5
-
4
-
-
0027517904
-
A study of the Huntington’s disease associated trinucleotide repeat in the Scottish population
-
Barron L.H., Warner J.P, Porteous M., Holloway S., Simpson S., Davidson R. & Brock DJ. (1993) A study of the Huntington’s disease associated trinucleotide repeat in the Scottish population. J. Med. Genet. 30, 1003-1007.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 1003-1007
-
-
Barron, L.H.1
Warner, J.P.2
Porteous, M.3
Holloway, S.4
Simpson, S.5
Davidson, R.6
Brock, D.J.7
-
5
-
-
0027378051
-
Dynamic mutation in Dutch Huntington’s disease patients increased paternal repeat instability extending to within the normal size range
-
De Rooij K.E., De Koning Gans PA.M. et al. (1993) Dynamic mutation in Dutch Huntington’s disease patients increased paternal repeat instability extending to within the normal size range.J. Med. Genet. 30, 996-1002.
-
(1993)
J. Med. Genet
, vol.30
, pp. 996-1002
-
-
De Rooij, K.E.1
De Koning Gans, P.A.M.2
-
6
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Huntington’s Disease
-
Duyao M.P, Ambrose C.M., Myers R.H. et al. (1993) Trinucleotide repeat length instability and age of onset in Huntington’s Disease. Nat. Gen. 4, 387-392.
-
(1993)
Nat. Gen.
, vol.4
, pp. 387-392
-
-
Duyao, M.P.1
Ambrose, C.M.2
Myers, R.H.3
-
8
-
-
0027357245
-
Hunting for Huntington’s Disease
-
T. Friedmann (ed.), Academic Press, Boston
-
Gusella J.F. & MacDonald M.E. (1993) Hunting for Huntington’s Disease. In: Molecular Genetic Medicine, Volume 3. T. Friedmann (ed.), pp. 139-158.Academic Press, Boston.
-
(1993)
Molecular Genetic Medicine
, vol.3
, pp. 139-158
-
-
Gusella, J.F.1
Macdonald, M.E.2
-
9
-
-
0021028244
-
A polymorphic DNA marker genetically linked to Huntington’s Disease
-
Gusella J.F., Wexler N.S., Conneally PM. et al. (1983) A polymorphic DNA marker genetically linked to Huntington’s Disease. Nature 306, 234-238.
-
(1983)
Nature
, vol.306
, pp. 234-238
-
-
Gusella, J.F.1
Wexler, N.S.2
Conneally, P.M.3
-
10
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes
-
Huntington’s Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72, 971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
11
-
-
0028316870
-
A worldwide study of the Huntington’s disease mutation: The sensitivity and specificity of measuring CAG repeats
-
Kremer B., Goldberg P., Andrew S.E., Theilmann J., Telenius H., Zeisler J., Squitieri F. et al. (1994) A worldwide study of the Huntington’s disease mutation: The sensitivity and specificity of measuring CAG repeats. N. Engl.J. Med. 330, 1401-1406.
-
(1994)
N. Engl.J. Med.
, vol.330
, pp. 1401-1406
-
-
Kremer, B.1
Goldberg, P.2
Rew, S.E.3
Theilmann, J.4
Telenius, H.5
Zeisler, J.6
Squitieri, F.7
-
12
-
-
0027363951
-
Gametic but not somatic instability of CAG repeat length in Huntington’s disease
-
MacDonald M.E., Barnes G., Srinidhi J. et al., (1993) Gametic but not somatic instability of CAG repeat length in Huntington’s disease.J. Med. Genet. 30, 982-986.
-
(1993)
J. Med. Genet
, vol.30
, pp. 982-986
-
-
Macdonald, M.E.1
Barnes, G.2
Srinidhi, J.3
-
13
-
-
0022876328
-
Huntington’s disease: Pathogenesis and management
-
Martin J.B. & Gusella J.F (1986) Huntington’s disease: Pathogenesis and management. N. Engl. J. Med. 315, 1267-1276.
-
(1986)
N. Engl. J. Med.
, vol.315
, pp. 1267-1276
-
-
Martin, J.B.1
Gusella, J.F.2
-
14
-
-
0027327418
-
Trinucleotide repeat elongation in the Huntington gene in Huntington disease patients from 71 Danish families
-
Norremolle A., Riess O., Epplen J.T., Fenger K., Hasholt L. & Sorensen S.A. (1993) Trinucleotide repeat elongation in the Huntington gene in Huntington disease patients from 71 Danish families. Hum.Mol. Genet. 2, 1475-1476.
-
(1993)
Hum.Mol. Genet.
, vol.2
, pp. 1475-1476
-
-
Norremolle, A.1
Riess, O.2
Epplen, J.T.3
Fenger, K.4
Hasholt, L.5
Sorensen, S.A.6
-
15
-
-
0027958627
-
Analysis of the trinucleotide repeat expanion in Italian families affected with Huntington disease
-
Novelletto A., Persichetti F, Sabbadini G. et al (1994) Analysis of the trinucleotide repeat expanion in Italian families affected with Huntington disease. Hum. Mol. Genet. 3, 93-98.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 93-98
-
-
Novelletto, A.1
Persichetti, F.2
Sabbadini, G.3
-
16
-
-
0027519511
-
Analysis of the Huntington gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington’s disease and CAG repeat number
-
Rubinsztein D.C., Barton D.E., Davison B.C.C. & FergusonSmith M.A. (1993a) Analysis of the Huntington gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington’s disease and CAG repeat number. Hum Mol. Genet. 2, 1713-1715.
-
(1993)
Hum Mol. Genet.
, vol.2
, pp. 1713-1715
-
-
Rubinsztein, D.C.1
Barton, D.E.2
Davison, B.C.C.3
Fergusonsmith, M.A.4
-
18
-
-
1642437553
-
-
Version 6., Fourth Edition, SAS Institute Inc., Cary, NC
-
SAS Institute Inc. (1989) SAS/STAT User' Guide, Version 6. Fourth Edition, Volume 2. SAS Institute Inc., Cary, NC.
-
(1989)
SAS/STAT User' Guide
, vol.2
-
-
-
19
-
-
0027425189
-
Huntington’s disease in Grampian region correlation of the CAG repeat number and the age of onset of the disease
-
Simpson S.A., Davidson MJ. & Barron L.H. (1993) Huntington’s disease in Grampian region correlation of the CAG repeat number and the age of onset of the disease. J. Med. Genet. 30, 1014-1017.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 1014-1017
-
-
Simpson, S.A.1
Davidson, M.J.2
Barron, L.H.3
-
20
-
-
0027261537
-
Relationship between trinucleotide repeat expanion and phenotypic variation in Huntington’s disease
-
Snell R.G., MacMillan J C., Cheadle J.P, et al. (1993) Relationship between trinucleotide repeat expanion and phenotypic variation in Huntington’s disease. Nat. Gen. 4, 393-397.
-
(1993)
Nat. Gen.
, vol.4
, pp. 393-397
-
-
Snell, R.G.1
Macmillan, J.C.2
Cheadle, J.P.3
-
21
-
-
0027377151
-
Correlation between the onset age of Huntington’s disease and length of the trinucleotide repeat in IT-15
-
Stine O.C., Pleasant N., Franz M.L., Abbott M.H., Folstein S.E. & Ross C.A. (1993) Correlation between the onset age of Huntington’s disease and length of the trinucleotide repeat in IT-15. Hum.Mol. Genet. 2, 1547-1549.
-
(1993)
Hum.Mol. Genet.
, vol.2
, pp. 1547-1549
-
-
Stine, O.C.1
Pleasant, N.2
Franz, M.L.3
Abbott, M.H.4
Folstein, S.E.5
Ross, C.A.6
-
22
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
Telenius H., Kremer B., Goldberg Y.P. et al. (1994) Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat. Gen. 6, 409-413.
-
(1994)
Nat. Gen.
, vol.6
, pp. 409-413
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
-
23
-
-
0022395922
-
Neuropathological classification of Huntington’s disease
-
Vonsattel J.P, Myers R.H., Stevens T.J., Ferrante R.J., Bird E D. & Richardson E.P, Jr. (1985) Neuropathological classification of Huntington’s disease. J. Neuropathol. Exp. Neurol. 44, 559-577.
-
(1985)
J. Neuropathol. Exp. Neurol.
, vol.44
, pp. 559-577
-
-
Vonsattel, J.P.1
Myers, R.H.2
Stevens, T.J.3
Ferrante, R.J.4
Bird, E.D.5
Richardson, E.P.6
-
24
-
-
0027275819
-
A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington’s disease chromosomes
-
Warner J.P, Barron L.H. & Brock DJ. (1993) A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington’s disease chromosomes. Mol. Cell Probes 7, 235-239.
-
(1993)
Mol. Cell Probes
, vol.7
, pp. 235-239
-
-
Warner, J.P.1
Barron, L.H.2
Brock, D.J.3
-
25
-
-
0027745692
-
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington’s disease gene
-
Zuhlke C., Riess O., Bockel B., Lange H. & Thies U (1993a) Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington’s disease gene. Hum Mol. Genet. 2, 2063-2067.
-
(1993)
Hum Mol. Genet.
, vol.2
, pp. 2063-2067
-
-
Zuhlke, C.1
Riess, O.2
Bockel, B.3
Lange, H.4
Thies, U.5
-
26
-
-
0027327417
-
Expansion of the (CAG)n repeat causing Huntington’s disease in 353 patients of German origin
-
Zuhlke C., Riess O., Schroder K., Siedlaczck I., Epplen J.T., Engel W. & Thies U. (1993b) Expansion of the (CAG)n repeat causing Huntington’s disease in 353 patients of German origin. Hum. Mol. Genet 2, 1467-1469.
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 1467-1469
-
-
Zuhlke, C.1
Riess, O.2
Schroder, K.3
Siedlaczck, I.4
Epplen, J.T.5
Engel, W.6
Thies, U.7
|