-
1
-
-
0022876328
-
Huntington's disease. Pathogenesis and management
-
Martin JB, Gusella JF. Huntington's disease. Pathogenesis and management. N Engl J Med 1986; 315(20): 1267-1276.
-
(1986)
N Engl J Med
, vol.315
, Issue.20
, pp. 1267-1276
-
-
Martin, J.B.1
Gusella, J.F.2
-
2
-
-
0036769161
-
Clinical picture of patients with Huntington's disease in relation to the number of trinucleotide CAG repeats in IT-15 gene
-
Zielonka D, de Mezer M, Niezgoda A, Reperowicz K, Krzyzosiak W, Kozubski W. Clinical picture of patients with Huntington's disease in relation to the number of trinucleotide CAG repeats in IT-15 gene. Neurol Neurochir Pol 2002; 36(5): 903-909.
-
(2002)
Neurol Neurochir Pol
, vol.36
, Issue.5
, pp. 903-909
-
-
Zielonka, D.1
de Mezer, M.2
Niezgoda, A.3
Reperowicz, K.4
Krzyzosiak, W.5
Kozubski, W.6
-
3
-
-
85009332113
-
Uniform Huntington's Disease Rating Scale: Reliability and consistency
-
Huntington Study Group
-
Huntington Study Group. Uniform Huntington's Disease Rating Scale: reliability and consistency. Mov Dis 1996; 11: 136-142.
-
(1996)
Mov Dis
, vol.11
, pp. 136-142
-
-
-
4
-
-
0032844930
-
Sympathetic skin response and heart rate variability in patients with Huntington's disease
-
Sharma KR, Romano JG, Ayyar DR, Rotta FT, Facca A, Sanchez-Ramos J. Sympathetic skin response and heart rate variability in patients with Huntington's disease. Arch Neurol 1999; 56(10): 1248-1252.
-
(1999)
Arch Neurol
, vol.56
, Issue.10
, pp. 1248-1252
-
-
Sharma, K.R.1
Romano, J.G.2
Ayyar, D.R.3
Rotta, F.T.4
Facca, A.5
Sanchez-Ramos, J.6
-
5
-
-
0035878553
-
Double-stranded RNA-depended protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue
-
Peel A, Rao R, Cottrell B, Hayden MR, Ellerby LM, Bredesen DE. Double-stranded RNA-depended protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Hum Mol Genet 2001; 10(15): 1531-1538.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.15
, pp. 1531-1538
-
-
Peel, A.1
Rao, R.2
Cottrell, B.3
Hayden, M.R.4
Ellerby, L.M.5
Bredesen, D.E.6
-
6
-
-
57649154414
-
Obraz kliniczny w kontekście badań genetycznych i neuroobrazowych u pacjentów z plasawica Huntingtona.
-
Zielonka D, Reperowicz K, Murawa D, Krzyzosiak W, Kozubski W. Obraz kliniczny w kontekście badań genetycznych i neuroobrazowych u pacjentów z plasawica Huntingtona. Nowiny Lekarskie 2000; 3: 307-404.
-
(2000)
Nowiny Lekarskie
, vol.3
, pp. 307-404
-
-
Zielonka, D.1
Reperowicz, K.2
Murawa, D.3
Krzyzosiak, W.4
Kozubski, W.5
-
7
-
-
0002282074
-
A new measure of rank correlation
-
Kendall M. A new measure of rank correlation. Biometrika 1938; 30: 81-89.
-
(1938)
Biometrika
, vol.30
, pp. 81-89
-
-
Kendall, M.1
-
9
-
-
0006407254
-
WinBUGS - a Bayesian modelling framework: Concepts, structure, and extensibility
-
Lunn DJ, Thomas A, Best N, Spiegelhalter D. WinBUGS - a Bayesian modelling framework: concepts, structure, and extensibility. Stat Comput 2000; 10: 325-337.
-
(2000)
Stat Comput
, vol.10
, pp. 325-337
-
-
Lunn, D.J.1
Thomas, A.2
Best, N.3
Spiegelhalter, D.4
-
10
-
-
0028099274
-
Trinucleotide repeat length and progression of illness in Huntington's disease
-
Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell K et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet 1994; 31(11): 872-874.
-
(1994)
J Med Genet
, vol.31
, Issue.11
, pp. 872-874
-
-
Kieburtz, K.1
MacDonald, M.2
Shih, C.3
Feigin, A.4
Steinberg, K.5
Bordwell, K.6
-
11
-
-
0029101386
-
Correlations between triplet repeat expansion and clinical features in Huntington's disease
-
Claes S, Van Zand K, Legius E, Dom R, Malfroid M, Baro F et al. Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol 1995; 52(8): 749-753.
-
(1995)
Arch Neurol
, vol.52
, Issue.8
, pp. 749-753
-
-
Claes, S.1
Van Zand, K.2
Legius, E.3
Dom, R.4
Malfroid, M.5
Baro, F.6
-
12
-
-
0028486906
-
The gene responsible for Huntington's disease in Spanish families: Its diagnostic value and the relation between trinucleotide expansion and the clinical characteristics
-
Benitez J, Fernandez E, Garcia Ruiz P, Robledo M, Ayuso C, Garcia Yebenes J. The gene responsible for Huntington's disease in Spanish families: its diagnostic value and the relation between trinucleotide expansion and the clinical characteristics. Rev Clin Esp 1994; 194(8): 591-593.
-
(1994)
Rev Clin Esp
, vol.194
, Issue.8
, pp. 591-593
-
-
Benitez, J.1
Fernandez, E.2
Garcia Ruiz, P.3
Robledo, M.4
Ayuso, C.5
Garcia Yebenes, J.6
-
13
-
-
0028919687
-
Functional decline in Huntington's disease
-
Feigin A, Kieburtz K, Bordwell K, Como P, Steinberg K, Sotack J et al. Functional decline in Huntington's disease. Mov Disord 1995; 10(2): 211-214.
-
(1995)
Mov Disord
, vol.10
, Issue.2
, pp. 211-214
-
-
Feigin, A.1
Kieburtz, K.2
Bordwell, K.3
Como, P.4
Steinberg, K.5
Sotack, J.6
-
14
-
-
0031740575
-
Unified Huntington's disease rating scale: A follow up
-
Siesling S, van Vugt J, Zwinderman KA, Kieburtz K, Roos R. Unified Huntington's disease rating scale: a follow up. Mov Disord 1998; 13(6): 915-919.
-
(1998)
Mov Disord
, vol.13
, Issue.6
, pp. 915-919
-
-
Siesling, S.1
van Vugt, J.2
Zwinderman, K.A.3
Kieburtz, K.4
Roos, R.5
-
15
-
-
0034711708
-
Rate of functional decline in Huntington's disease
-
Marder K, Zhao H, Myers RH, Cudkowicz M, Kayson E, Kieburtz K et al. Rate of functional decline in Huntington's disease. Neurology 2000; 54(2): 452-458.
-
(2000)
Neurology
, vol.54
, Issue.2
, pp. 452-458
-
-
Marder, K.1
Zhao, H.2
Myers, R.H.3
Cudkowicz, M.4
Kayson, E.5
Kieburtz, K.6
-
16
-
-
0037379416
-
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
-
Squitieri F, Gellera C, Cannella M, Mariotti C, Cislaghi G, Rubinsztein DC et al. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 2003; 126(4): 946-955.
-
(2003)
Brain
, vol.126
, Issue.4
, pp. 946-955
-
-
Squitieri, F.1
Gellera, C.2
Cannella, M.3
Mariotti, C.4
Cislaghi, G.5
Rubinsztein, D.C.6
-
17
-
-
0033033260
-
Homozygosity in Huntington's disease
-
Dürr A, Hahn-Barma V, Brice A, Pêcheux C, Dodé C, Feingold J. Homozygosity in Huntington's disease. J Med Genet 1999; 36(2): 172-173.
-
(1999)
J Med Genet
, vol.36
, Issue.2
, pp. 172-173
-
-
Dürr, A.1
Hahn-Barma, V.2
Brice, A.3
Pêcheux, C.4
Dodé, C.5
Feingold, J.6
-
18
-
-
0032867615
-
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease
-
MacDonald M, Vonsattel J, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED et al. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 1999; 53(6): 1330-1332.
-
(1999)
Neurology
, vol.53
, Issue.6
, pp. 1330-1332
-
-
MacDonald, M.1
Vonsattel, J.2
Shrinidhi, J.3
Couropmitree, N.N.4
Cupples, L.A.5
Bird, E.D.6
-
19
-
-
0027138068
-
-
de Rooij KE, de Koning Gans PA, Losekoot M, Bakker E, den Dunnen JT, Vegter-van der Vlis M et al. Borderline repeat expansion in Huntington's disease. Lancet 1993 11; 342(8885): 1491-1492.
-
de Rooij KE, de Koning Gans PA, Losekoot M, Bakker E, den Dunnen JT, Vegter-van der Vlis M et al. Borderline repeat expansion in Huntington's disease. Lancet 1993 11; 342(8885): 1491-1492.
-
-
-
-
20
-
-
33846436448
-
Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds
-
Andresen JM, Gayán J, Cherny SS, Brocklebank D, Alkorta-Aranburu G, Addis EA. Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J Med Genet 2007; 44(1): 44-50.
-
(2007)
J Med Genet
, vol.44
, Issue.1
, pp. 44-50
-
-
Andresen, J.M.1
Gayán, J.2
Cherny, S.S.3
Brocklebank, D.4
Alkorta-Aranburu, G.5
Addis, E.A.6
-
21
-
-
34547735547
-
NR2A and NR2B receptor gene variations modify age at onset in Huntington's disease in a sex-specific manner
-
Arning L, Saft C, Wieczorek S, Andrich J, Kraus PH, Epplen JT. NR2A and NR2B receptor gene variations modify age at onset in Huntington's disease in a sex-specific manner. Hum Genet 2007; 122(2): 175-182.
-
(2007)
Hum Genet
, vol.122
, Issue.2
, pp. 175-182
-
-
Arning, L.1
Saft, C.2
Wieczorek, S.3
Andrich, J.4
Kraus, P.H.5
Epplen, J.T.6
-
22
-
-
0033033679
-
Age of onset in Huntington disease: Sex specific influence of apolipoprotein E genotype and normal CAG repeat length
-
Kehoe P, Krawczak M, Harper PS, Owen MJ, Jones AL. Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J Med Genet 1999; 36(2): 108-111.
-
(1999)
J Med Genet
, vol.36
, Issue.2
, pp. 108-111
-
-
Kehoe, P.1
Krawczak, M.2
Harper, P.S.3
Owen, M.J.4
Jones, A.L.5
-
23
-
-
10044294013
-
Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease
-
Saft C, Andrich JE, Brune N, Gencik M, Kraus PH, Przuntek H et al. Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease. J Neurol Neurosurg Psychiatry 2004; 75(12): 1692-1696.
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, Issue.12
, pp. 1692-1696
-
-
Saft, C.1
Andrich, J.E.2
Brune, N.3
Gencik, M.4
Kraus, P.H.5
Przuntek, H.6
-
24
-
-
31544447731
-
-
Squitieri F, Frati L, Ciarmiello A, Lastoria S, Quarrell O. Juvenile Huntington's disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease? Mech of Ageing Dev 2006; 127(2): 208-212.
-
(2006)
Juvenile Huntington's disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease? Mech of Ageing Dev
, vol.127
, Issue.2
, pp. 208-212
-
-
Squitieri, F.1
Frati, L.2
Ciarmiello, A.3
Lastoria, S.4
Quarrell, O.5
-
25
-
-
55049093428
-
-
Židovská J, Klempíř J, Kebrdlová V, Uhrová T, Koblihová J, Anders M et al. Huntingtonova nemoc: zkušenosti s genetickým testováním v letech 1994-2005. Cesk Slov Neurol N 2007; 70/103(1): 72-77.
-
Židovská J, Klempíř J, Kebrdlová V, Uhrová T, Koblihová J, Anders M et al. Huntingtonova nemoc: zkušenosti s genetickým testováním v letech 1994-2005. Cesk Slov Neurol N 2007; 70/103(1): 72-77.
-
-
-
-
26
-
-
34247120606
-
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset
-
Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet 2007;71(3): 295-301.
-
(2007)
Ann Hum Genet
, vol.71
, Issue.3
, pp. 295-301
-
-
Andresen, J.M.1
Gayán, J.2
Djoussé, L.3
Roberts, S.4
Brocklebank, D.5
Cherny, S.S.6
-
27
-
-
11244324114
-
Early onset Huntington disease: A neuronal degeneration syndrome
-
Seneca S, Fagnart D, Keymolen K, Lissens W, Hasaerts D, Debulpaep S et al. Early onset Huntington disease: a neuronal degeneration syndrome. Eur J Pediatr 2004; 163(12): 717-721.
-
(2004)
Eur J Pediatr
, vol.163
, Issue.12
, pp. 717-721
-
-
Seneca, S.1
Fagnart, D.2
Keymolen, K.3
Lissens, W.4
Hasaerts, D.5
Debulpaep, S.6
-
28
-
-
33846906945
-
Sex differences in behavior and striatal ascorbate release in the 140 CAG knock-in mouse model of Huntington's disease
-
Dorner JL, Miller BR, Barton SJ, Brock TJ, Rebec GV. Sex differences in behavior and striatal ascorbate release in the 140 CAG knock-in mouse model of Huntington's disease. Behav Brain Res 2007; 178(1): 90-97.
-
(2007)
Behav Brain Res
, vol.178
, Issue.1
, pp. 90-97
-
-
Dorner, J.L.1
Miller, B.R.2
Barton, S.J.3
Brock, T.J.4
Rebec, G.V.5
-
29
-
-
0034326903
-
Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene
-
Kovtun I, Therneau T, McMurray C. Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene. Hum Mol Genet 2000; 9(18): 2767-2775.
-
(2000)
Hum Mol Genet
, vol.9
, Issue.18
, pp. 2767-2775
-
-
Kovtun, I.1
Therneau, T.2
McMurray, C.3
-
30
-
-
0027363951
-
Gametic but not somatic instability of CAG repeat length in Huntington's disease
-
MacDonald ME, Barnes G, Srinidhi J, Duyao MP, Ambrose CM, Myers RH et al. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet 1993; 30(12): 982-986.
-
(1993)
J Med Genet
, vol.30
, Issue.12
, 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
-
31
-
-
0027745692
-
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington's disease gene
-
Zühlke C, Riess O, Bockel B, Lange H, Thies U. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington's disease gene. Hum Mol Genet 1993; 2(12): 2063-2067.
-
(1993)
Hum Mol Genet
, vol.2
, Issue.12
, pp. 2063-2067
-
-
Zühlke, C.1
Riess, O.2
Bockel, B.3
Lange, H.4
Thies, U.5
-
32
-
-
0032897901
-
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism
-
Leeflang E, Tavare S, Marjoram P, Neal CO, Srinidhi J, MacFarlane H et al. Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum Mol Genet 1999; 8(2): 173-183.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.2
, pp. 173-183
-
-
Leeflang, E.1
Tavare, S.2
Marjoram, P.3
Neal, C.O.4
Srinidhi, J.5
MacFarlane, H.6
-
33
-
-
12144288251
-
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
-
Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci USA 2004; 101(10): 3498-3503.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, Issue.10
, pp. 3498-3503
-
-
Wexler, N.S.1
Lorimer, J.2
Porter, J.3
Gomez, F.4
Moskowitz, C.5
Shackell, E.6
-
34
-
-
0942290682
-
The gender effect in juvenile Huntington disease patients of Italian origin
-
Cannella M, Gellera C, Maglione V, Giallonardo P, Cislaghi G, Muglia M. The gender effect in juvenile Huntington disease patients of Italian origin. Am J Med Genet B Neuropsychiatr Genet 2004; 125B(1): 92-98.
-
(2004)
Am J Med Genet B Neuropsychiatr Genet
, vol.125 B
, Issue.1
, pp. 92-98
-
-
Cannella, M.1
Gellera, C.2
Maglione, V.3
Giallonardo, P.4
Cislaghi, G.5
Muglia, M.6
-
35
-
-
2542548851
-
Molecular analysis of the IT-15 gene in 79 Spanish families with Huntington's disease: Diagnostic confirmation and presymptomatic diagnosis
-
Sánchez A, Mìla M, Castellvi-Bel S, Calopa M, Genis D, Jiménez D et al. Molecular analysis of the IT-15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis. Med Clin (Barc) 1997; 108(18): 687-690.
-
(1997)
Med Clin (Barc)
, vol.108
, Issue.18
, pp. 687-690
-
-
Sánchez, A.1
Mìla, M.2
Castellvi-Bel, S.3
Calopa, M.4
Genis, D.5
Jiménez, D.6
-
36
-
-
0032010149
-
Importance of the number of trinucleotide repeat expansions in the clinical manifestations of Huntington's chorea
-
Vojvodić N, Culjković B, Romac S, Stojković O, Sternić N, Sokić D et al. Importance of the number of trinucleotide repeat expansions in the clinical manifestations of Huntington's chorea. Srp Arh Celok Lek 1998; 126(3-4): 77-82.
-
(1998)
Srp Arh Celok Lek
, vol.126
, Issue.3-4
, pp. 77-82
-
-
Vojvodić, N.1
Culjković, B.2
Romac, S.3
Stojković, O.4
Sternić, N.5
Sokić, D.6
-
37
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
-
Snell R, MacMillan J, Cheadle J, Fenton I, Lazarou LP, Davies P et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993; 4(4): 393-397.
-
(1993)
Nat Genet
, vol.4
, Issue.4
, pp. 393-397
-
-
Snell, R.1
MacMillan, J.2
Cheadle, J.3
Fenton, I.4
Lazarou, L.P.5
Davies, P.6
-
38
-
-
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 et al. Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet 1995; 57(3): 593-602.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.3
, 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
-
39
-
-
0029925184
-
Trinucleotyde repeat length and clinical progression in Huntington's disease
-
Brandt J, Bylsma FW, Gross R, Stine OC, Ranen N, Roos CA. Trinucleotyde repeat length and clinical progression in Huntington's disease. Neurology 1996; 46(2): 527-531.
-
(1996)
Neurology
, vol.46
, Issue.2
, pp. 527-531
-
-
Brandt, J.1
Bylsma, F.W.2
Gross, R.3
Stine, O.C.4
Ranen, N.5
Roos, C.A.6
-
40
-
-
0036756963
-
CAG mutation effect on rate of progression in Huntington's disease
-
Squitieri F, Cannella M, Simonelli M. CAG mutation effect on rate of progression in Huntington's disease. Neurol Sci 2002; 23 (Suppl 2): S107-S108.
-
(2002)
Neurol Sci
, vol.23
, Issue.SUPPL. 2
-
-
Squitieri, F.1
Cannella, M.2
Simonelli, M.3
-
41
-
-
0028071471
-
Trinucleotide repeat length and rate of progression of Huntington's disease
-
Illarioshkin SN, Igarashi S, Onodera O, Markova ED, Nikolskaya NN, Tanaka H et al. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann Neurol 1994; 36(4): 630-635.
-
(1994)
Ann Neurol
, vol.36
, Issue.4
, pp. 630-635
-
-
Illarioshkin, S.N.1
Igarashi, S.2
Onodera, O.3
Markova, E.D.4
Nikolskaya, N.N.5
Tanaka, H.6
-
42
-
-
48249114740
-
Detection of Huntington's disease decades before diagnosis: The Predict-HD study
-
Paulsen JS, Langbehn DR, Stout JC, Aylward E, Ross CA, Nance M et al. Detection of Huntington's disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry 2008; 79(8): 874-880.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, Issue.8
, pp. 874-880
-
-
Paulsen, J.S.1
Langbehn, D.R.2
Stout, J.C.3
Aylward, E.4
Ross, C.A.5
Nance, M.6
-
43
-
-
34547651414
-
Survival of Huntington's disease patients in Serbia: Longer survival in female patients
-
Pekmezovic T, Svetel M, Maric J, Dujmovic-Basuroski I, Dragasevic N, Keckarevic M et al. Survival of Huntington's disease patients in Serbia: longer survival in female patients. Eur J Epidemiol 2007; 22(8): 523-526.
-
(2007)
Eur J Epidemiol
, vol.22
, Issue.8
, pp. 523-526
-
-
Pekmezovic, T.1
Svetel, M.2
Maric, J.3
Dujmovic-Basuroski, I.4
Dragasevic, N.5
Keckarevic, M.6
|