-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded in Huntington disease chromosomes
-
Huntington Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded in Huntington disease chromosomes. Cell 1993;72:971-83.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
3
-
-
0027468861
-
Duration of illness in Huntington disease is not related to age at onset
-
Roos RA, Hermans J, Vegter-van der Vlis M, van Ommen GJ, Bruyn GW. Duration of illness in Huntington disease is not related to age at onset. J Neurol Neurosurg Psychiatry 1993;56:98-100.
-
(1993)
J Neurol Neurosurg Psychiatry
, vol.56
, pp. 98-100
-
-
Roos, R.A.1
Hermans, J.2
Vegter-Van Der Vlis, M.3
Van Ommen, G.J.4
Bruyn, G.W.5
-
4
-
-
0000970542
-
Huntington chorea
-
Vinken PJ, Bruyn GW, Klawans HL, eds. Amsterdam: Elsevier Science Publishers B.V.
-
Bruyn GW, Went LN. Huntington chorea. In: Vinken PJ, Bruyn GW, Klawans HL, eds. Handbook of clinical neurology, 5th ed. Amsterdam: Elsevier Science Publishers B.V., 1986:267-313.
-
(1986)
Handbook of Clinical Neurology, 5th Ed.
, pp. 267-313
-
-
Bruyn, G.W.1
Went, L.N.2
-
5
-
-
0342366390
-
The Westphal variant and the juvenile type of Huntington chorea
-
Barbeau A, Brunette JR, eds. International congress series no. 175. Amsterdam: Excerpta Medica Foundation
-
Bruyn GW. The Westphal variant and the juvenile type of Huntington chorea. In: Barbeau A, Brunette JR, eds. Progress in neurogenetics. International congress series no. 175. Amsterdam: Excerpta Medica Foundation, 1969:666-73.
-
(1969)
Progress in Neurogenetics
, pp. 666-673
-
-
Bruyn, G.W.1
-
7
-
-
0020070008
-
Genetic aspects of Huntington chorea: Results of a national survey
-
Hayden MR, Beighton P. Genetic aspects of Huntington chorea: Results of a national survey. Am J Med Genet 1982;11:135-41.
-
(1982)
Am J Med Genet
, vol.11
, pp. 135-141
-
-
Hayden, M.R.1
Beighton, P.2
-
8
-
-
0001941990
-
Juvenile Huntington chorea
-
Barbeau A, Brunette JR, eds. Amsterdam: Excerpta Medica
-
Merritt AD, Conneally PM, Rahman NF, Drew AL. Juvenile Huntington chorea. In: Barbeau A, Brunette JR, eds. Progress in neurogenetics. Amsterdam: Excerpta Medica, 1969:645-50.
-
Progress in Neurogenetics
, vol.1969
, pp. 645-650
-
-
Merritt, A.D.1
Conneally, P.M.2
Rahman, N.F.3
Drew, A.L.4
-
10
-
-
0004293145
-
-
London: Saunders
-
Harper PS, Morris MR, Quarrell OWJ, Shaw DJ, Tyler AT, Youngman S. Huntington Disease. London: Saunders, 1991: 46-51.
-
(1991)
Huntington Disease
, pp. 46-51
-
-
Harper, P.S.1
Morris, M.R.2
Quarrell, O.W.J.3
Shaw, D.J.4
Tyler, A.T.5
Youngman, S.6
-
11
-
-
0001670657
-
Huntington chorea: Historical, clinical and laboratory synopsis
-
Vinken PJ, Bruyn GW, eds. Amsterdam: North-Holland Publishing
-
Bruyn GW. Huntington chorea: Historical, clinical and laboratory synopsis. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, 6th ed. Amsterdam: North-Holland Publishing, 1968:268-378.
-
(1968)
Handbook of Clinical Neurology, 6th Ed.
, pp. 268-378
-
-
Bruyn, G.W.1
-
12
-
-
0025855174
-
Patterns of inheritance of the symptoms of Huntington disease suggestive of an effect of genomic imprinting
-
Ridley RM, Frith CD, Farrer LA, Conneally PM. Patterns of inheritance of the symptoms of Huntington disease suggestive of an effect of genomic imprinting. J Med Genet 1991;28:224-31.
-
(1991)
J Med Genet
, vol.28
, pp. 224-231
-
-
Ridley, R.M.1
Frith, C.D.2
Farrer, L.A.3
Conneally, P.M.4
-
13
-
-
0021260868
-
Huntington disease: Genetics and epidemiology
-
Conneally PM. Huntington disease: Genetics and epidemiology. Am Soc Hum Genet 1984;36:506-26.
-
(1984)
Am Soc Hum Genet
, vol.36
, pp. 506-526
-
-
Conneally, P.M.1
-
14
-
-
0343235896
-
Huntington chorea: An appraisal of the genetic problem
-
Barbeau A, Brunette JR, eds. Amsterdam: Exerpta Medica
-
Myrianthopoulos NC. Huntington chorea: An appraisal of the genetic problem. In: Barbeau A, Brunette JR, eds. Progress in neurogenetics. Amsterdam: Exerpta Medica, 1969:509-16.
-
(1969)
Progress in Neurogenetics
, pp. 509-516
-
-
Myrianthopoulos, N.C.1
-
15
-
-
0025775450
-
Age at onset in Huntington disease: Effect of line of inheritance and patient's sex
-
Roos RA, Vegter-van der Vlis M, Hermans J, Elshove HM, Moll AC, van de Kamp JJ, Bruyn GW. Age at onset in Huntington disease: Effect of line of inheritance and patient's sex. J Med Genet 1991;28:515-9.
-
(1991)
J Med Genet
, vol.28
, pp. 515-519
-
-
Roos, R.A.1
Vegter-Van Der Vlis, M.2
Hermans, J.3
Elshove, H.M.4
Moll, A.C.5
De Van Kamp, J.J.6
Bruyn, G.W.7
-
16
-
-
0020032835
-
Huntington chorea. Report of 3 cases and review of the literature
-
Osborne JP, Munson P, Burman D. Huntington chorea. Report of 3 cases and review of the literature [Review]. Arch Dis Child 1982;57:99-103.
-
(1982)
Arch Dis Child
, vol.57
, pp. 99-103
-
-
Osborne, J.P.1
Munson, P.2
Burman, D.3
-
17
-
-
0020064444
-
Prognostic factors in Huntington disease of early onset
-
Brackenridge CJ. Prognostic factors in Huntington disease of early onset. Eur Neurol 1982;21:112-6.
-
(1982)
Eur Neurol
, vol.21
, pp. 112-116
-
-
Brackenridge, C.J.1
-
19
-
-
0016165650
-
Etude anatomo-clinique d'une forme infantile de la maladie de Huntington
-
Carlier G, Reznik M, Franck G, Husquinet H. Etude anatomo-clinique d'une forme infantile de la maladie de Huntington. Acta Neurol Belg 1974;74:36-63.
-
(1974)
Acta Neurol Belg
, vol.74
, pp. 36-63
-
-
Carlier, G.1
Reznik, M.2
Franck, G.3
Husquinet, H.4
-
20
-
-
0019158428
-
Factors influencing dementia and epilepsy in Huntington disease of early onset
-
Brackenridge CJ. Factors influencing dementia and epilepsy in Huntington disease of early onset. Acta Neurol Scand 1980;62:305-11.
-
(1980)
Acta Neurol Scand
, vol.62
, pp. 305-311
-
-
Brackenridge, C.J.1
-
21
-
-
0021125772
-
A childhood form of Huntington disease associated with marked pyramidal signs
-
Katafuchi Y, Fuijimoto T, Ono E, Kuda N. A childhood form of Huntington disease associated with marked pyramidal signs. Eur Neurol 1984;23:296-9.
-
(1984)
Eur Neurol
, vol.23
, pp. 296-299
-
-
Katafuchi, Y.1
Fuijimoto, T.2
Ono, E.3
Kuda, N.4
-
22
-
-
0001449561
-
Rigid and akinetic forms of Huntington chorea
-
Bittenberger JB, Quadfasel FA. Rigid and akinetic forms of Huntington chorea. Arch Neurol 1962;7:275-87.
-
(1962)
Arch Neurol
, vol.7
, pp. 275-287
-
-
Bittenberger, J.B.1
Quadfasel, F.A.2
-
23
-
-
58149436261
-
Observations on Huntington chorea in childhood
-
Markham CH, Knox J. Observations on Huntington chorea in childhood. J Pediatr 1965;67:46-57.
-
(1965)
J Pediatr
, vol.67
, pp. 46-57
-
-
Markham, C.H.1
Knox, J.2
-
24
-
-
0023196161
-
Predictability of phenotype in Huntington disease
-
Farrer LA, Conneally PM. Predictability of phenotype in Huntington disease. Arch Neurol 1987;44:109-13.
-
(1987)
Arch Neurol
, vol.44
, pp. 109-113
-
-
Farrer, L.A.1
Conneally, P.M.2
-
25
-
-
0019441825
-
Factors influencing age at onset and duration of survival in Huntington chorea
-
Newcombe RG, Walker DA, Harper PS. Factors influencing age at onset and duration of survival in Huntington chorea. Ann Hum Genet 1981;45:387-96.
-
(1981)
Ann Hum Genet
, vol.45
, pp. 387-396
-
-
Newcombe, R.G.1
Walker, D.A.2
Harper, P.S.3
-
26
-
-
0023715807
-
Anticipation in huntington disease is inherited through the male line but may originate in the female
-
Ridley RM, Frith CD, Crow TJ, Conneally PM. Anticipation in Huntington disease is inherited through the male line but may originate in the female. J Med Genet 1988;25:589-95.
-
(1988)
J Med Genet
, vol.25
, pp. 589-595
-
-
Ridley, R.M.1
Frith, C.D.2
Crow, T.J.3
Conneally, P.M.4
-
27
-
-
0028234720
-
Instability of CAG repeats in Huntington disease: Relation to parental transmission and age of onset
-
Trottier Y, Biancalana V, Mandel JL. Instability of CAG repeats in Huntington disease: Relation to parental transmission and age of onset. J Med Genet 1994;31:377-82.
-
(1994)
J Med Genet
, vol.31
, pp. 377-382
-
-
Trottier, Y.1
Biancalana, V.2
Mandel, J.L.3
-
28
-
-
0027176364
-
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington disease
-
Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington disease [see Comments]. Nature Genet 1993;4:398-403.
-
(1993)
Nature Genet
, vol.4
, pp. 398-403
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Kremer, B.3
Telenius, H.4
Theilmann, J.5
Adam, S.6
Starr, E.7
Squitieri, F.8
Lin, B.9
Kalchman, M.A.10
-
29
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Huntington disease
-
Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M. Trinucleotide repeat length instability and age of onset in Huntington disease [see Comments]. Nature Genet 1993;4:387-92.
-
(1993)
Nature Genet
, vol.4
, pp. 387-392
-
-
Duyao, M.1
Ambrose, C.2
Myers, R.3
Novelletto, A.4
Persichetti, F.5
Frontali, M.6
Folstein, S.7
Ross, C.8
Franz, M.9
Abbott, M.10
-
30
-
-
0029130324
-
Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease
-
Ranen NG, Stine OC, Abbott MH, Sherr M, Codori AM, Franz ML, Chao NI, Chung AS, Pleasant N, Callahan C. Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet 1995;57:593-602.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 593-602
-
-
Ranen, N.G.1
Stine, O.C.2
Abbott, M.H.3
Sherr, M.4
Codori, A.M.5
Franz, M.L.6
Chao, N.I.7
Chung, A.S.8
Pleasant, N.9
Callahan, C.10
-
31
-
-
0029075558
-
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes
-
Kremer B, Almqvist E, Theilmann J, Spence N, Telenius H, Goldberg YP, Hayden MR. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 1995;57:343-50.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 343-350
-
-
Kremer, B.1
Almqvist, E.2
Theilmann, J.3
Spence, N.4
Telenius, H.5
Goldberg, Y.P.6
Hayden, M.R.7
-
32
-
-
0027378051
-
Dynamic mutation in Dutch Huntington disease patients: Increased paternal repeat instability extending to within the normal size range
-
De Rooij KE, De Koning Gans PA, Skraastad MI, Belfroid RD, Vegter-van der Vlis M, Roos RA, Bakker E, van Ommen GJ, Den Dunnen JT, Losekoot M. Dynamic mutation in Dutch Huntington disease patients: Increased paternal repeat instability extending to within the normal size range. J Med Genet 1993;30:996-1002.
-
(1993)
J Med Genet
, vol.30
, pp. 996-1002
-
-
De Rooij, K.E.1
De Koning Gans, P.A.2
Skraastad, M.I.3
Belfroid, R.D.4
Vegter-Van Der Vlis, M.5
Roos, R.A.6
Bakker, E.7
Van Ommen, G.J.8
Den Dunnen, J.T.9
Losekoot, M.10
-
33
-
-
0028938274
-
Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington disease
-
Norremolle A, Sorensen SA, Fenger K, Hasholt L. Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington disease. Clin Genet 1995;47:113-7.
-
(1995)
Clin Genet
, vol.47
, pp. 113-117
-
-
Norremolle, A.1
Sorensen, S.A.2
Fenger, K.3
Hasholt, L.4
-
34
-
-
0027745692
-
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
-
Zuhlke C, 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;2:2063-7.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2063-2067
-
-
Zuhlke, C.1
Riess, O.2
Bockel, B.3
Lange, H.4
Thies, U.5
-
35
-
-
0027363951
-
Gametic but not somatic instability of CAG repeat length in Huntington disease
-
MacDonald ME, Barnes G, Srinidhi J, Duyao MP, Ambrose CM, Myers RH, Gray J, Conneally PM, Young A, Penney J. Gametic but not somatic instability of CAG repeat length in Huntington disease. J Med Genet 1993;30:982-6.
-
(1993)
J Med Genet
, vol.30
, pp. 982-986
-
-
MacDonald, M.E.1
Barnes, G.2
Srinidhi, J.3
Duyao, M.P.4
Ambrose, C.M.5
Myers, R.H.6
Gray, J.7
Conneally, P.M.8
Young, A.9
Penney, J.10
-
36
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
published erratum appears in Nature Genet 1994;7:113
-
Telenius H, Kremer B, Goldberg YP, Theilmann J, Andrew SE, Zeisler J, Adam S, Greenberg C, Ives EJ, Clarke LA. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm [published erratum appears in Nature Genet 1994;7:113]. Nature Genet 1994;6:409-14.
-
(1994)
Nature Genet
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
Theilmann, J.4
Andrew, S.E.5
Zeisler, J.6
Adam, S.7
Greenberg, C.8
Ives, E.J.9
Clarke, L.A.10
-
37
-
-
0027517904
-
A study of the Huntington disease associated trinucleotide repeat in the Scottish population
-
Barron LH, Warner JP, Porteous M, Holloway S, Simpson S, Davidson R, Brock DJH. A study of the Huntington disease associated trinucleotide repeat in the Scottish population. J Med Genet 1993;30: 1003-7.
-
(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.H.7
-
38
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington disease
-
Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington disease. Nature Genet 1993;4:393-7.
-
(1993)
Nature Genet
, vol.4
, pp. 393-397
-
-
Snell, R.G.1
MacMillan, J.C.2
Cheadle, J.P.3
Fenton, I.4
Lazarou, L.P.5
Davies, P.6
MacDonald, M.E.7
Gusella, J.F.8
Harper, P.S.9
Shaw, D.J.10
-
39
-
-
0028071471
-
Trinucleotide repeat length and rate of progression of Huntington disease
-
Illarioshkin SN, Igarashi S, Onodera O, Markova ED, Nikolskaya NN, Tanaka H, Chabrashwili TZ, Insarova NG, Endo K, Ivanova-Smolenskaya IA, Tsuji S. Trinucleotide Repeat Length and Rate of Progression of Huntington Disease. Ann Neurol 1994;36:630-5.
-
(1994)
Ann Neurol
, vol.36
, pp. 630-635
-
-
Illarioshkin, S.N.1
Igarashi, S.2
Onodera, O.3
Markova, E.D.4
Nikolskaya, N.N.5
Tanaka, H.6
Chabrashwili, T.Z.7
Insarova, N.G.8
Endo, K.9
Ivanova-Smolenskaya, I.A.10
Tsuji, S.11
-
40
-
-
0027381482
-
Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent
-
Telenius H, Kremer HP, Theilmann J, Andrew SE, Almqvist E, Anvret M, Greenberg C, Greenberg J, Lucotte G, Squitieri F. Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet 1993;2:1535-40.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1535-1540
-
-
Telenius, H.1
Kremer, H.P.2
Theilmann, J.3
Andrew, S.E.4
Almqvist, E.5
Anvret, M.6
Greenberg, C.7
Greenberg, J.8
Lucotte, G.9
Squitieri, F.10
-
41
-
-
0028815287
-
Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington disease
-
Lucotte G, Turpin JC, Riess O, Epplen JT, Siedlaczk I, Loirat F, Hazout S. Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington disease. Hum Genet 1995;95: 231-2.
-
(1995)
Hum Genet
, vol.95
, pp. 231-232
-
-
Lucotte, G.1
Turpin, J.C.2
Riess, O.3
Epplen, J.T.4
Siedlaczk, I.5
Loirat, F.6
Hazout, S.7
-
42
-
-
0027461790
-
Age at onset in Huntington disease and methylation at D4S95
-
Reik W, Maher ER, Morrison PJ, Harding AE, Simpson SA. Age at onset in Huntington disease and methylation at D4S95. J Med Genet 1993;30:185-8.
-
(1993)
J Med Genet
, vol.30
, pp. 185-188
-
-
Reik, W.1
Maher, E.R.2
Morrison, P.J.3
Harding, A.E.4
Simpson, S.A.5
-
43
-
-
0020508394
-
Two models for a maternal factor in the inheritance of Huntington disease
-
Boehnke M, Conneally PM, Lange K. Two models for a maternal factor in the inheritance of Huntington disease. Am J Hum Genet 1983;35:845-60.
-
(1983)
Am J Hum Genet
, vol.35
, pp. 845-860
-
-
Boehnke, M.1
Conneally, P.M.2
Lange, K.3
-
44
-
-
0014748775
-
Affected parent and age of onset in Huntington chorea
-
Jones MB, Phillips CR. Affected parent and age of onset in Huntington chorea. J Med Genet 1970;7:20-1.
-
(1970)
J Med Genet
, vol.7
, pp. 20-21
-
-
Jones, M.B.1
Phillips, C.R.2
-
45
-
-
0016210888
-
Effect of climatic temperature on the age of onset of Huntington chorea
-
Brackenridge CJ. Effect of climatic temperature on the age of onset of Huntington chorea. J Neurol Neurosurg Psychiatry 1974;37:297-301.
-
(1974)
J Neurol Neurosurg Psychiatry
, vol.37
, pp. 297-301
-
-
Brackenridge, C.J.1
-
47
-
-
0028099274
-
Trinucleotide repeat length and progression of illness in Huntington disease
-
Kieburtz K, MacDonald MM, Shih C, Feigin A, Steinberg K, Bordwell K, Zimmerman C, Srinidhi J, Sotack J, Gusella J, Shoulson I. Trinucleotide repeat length and progression of illness in Huntington disease. J Med Genet 1994;31:872-4.
-
(1994)
J Med Genet
, vol.31
, pp. 872-874
-
-
Kieburtz, K.1
MacDonald, M.M.2
Shih, C.3
Feigin, A.4
Steinberg, K.5
Bordwell, K.6
Zimmerman, C.7
Srinidhi, J.8
Sotack, J.9
Gusella, J.10
Shoulson, I.11
-
48
-
-
0029687924
-
Analysis of trinucleotide repeat expansion as a new mechanism of mutation in Huntington chorea: Theoretical and applied aspects
-
Illarioshkin SN, Ivanovasmolenskaya IA, Markova ED, Nikolskaya NN, Chabrashvili TZ, Insarova NG. Analysis of trinucleotide repeat expansion as a new mechanism of mutation in Huntington chorea: Theoretical and applied aspects. Genetika 1996;32:103-9.
-
(1996)
Genetika
, vol.32
, pp. 103-109
-
-
Illarioshkin, S.N.1
Ivanovasmolenskaya, I.A.2
Markova, E.D.3
Nikolskaya, N.N.4
Chabrashvili, T.Z.5
Insarova, N.G.6
-
49
-
-
0029101386
-
Correlations between triplet repeat expansion and clinical features in Huntington disease
-
Claes S, Van Zand K, Legius E, Dom R, Malfroid M, Baro F, Godderis J, Cassiman JJ. Correlations between triplet repeat expansion and clinical features in Huntington disease. Arch Neurol 1995;52:749-53.
-
(1995)
Arch Neurol
, vol.52
, pp. 749-753
-
-
Claes, S.1
Van Zand, K.2
Legius, E.3
Dom, R.4
Malfroid, M.5
Baro, F.6
Godderis, J.7
Cassiman, J.J.8
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