메뉴 건너뛰기




Volumn 29, Issue 11, 2014, Pages 1359-1365

Genetic modifiers of Huntington's disease

Author keywords

Genetic association; Genetic modifier; HTT; Huntingtin; Huntington's disease

Indexed keywords

HTT PROTEIN, HUMAN; NERVE PROTEIN;

EID: 84907932106     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26001     Document Type: Review
Times cited : (113)

References (60)
  • 1
    • 0021028244 scopus 로고
    • A polymorphic DNA marker genetically linked to Huntington's disease
    • Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983;306:234-238.
    • (1983) Nature , vol.306 , pp. 234-238
    • Gusella, J.F.1    Wexler, N.S.2    Conneally, P.M.3
  • 2
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group
    • Huntington's Disease Collaborative Research Group
    • Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 1993;72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 3
    • 80855136956 scopus 로고    scopus 로고
    • Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY
    • Orth M, Handley OJ, Schwenke C, et al. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. J Neurol Neurosurg Psychiatry 2011;82:1409-1412.
    • (2011) J Neurol Neurosurg Psychiatry , vol.82 , pp. 1409-1412
    • Orth, M.1    Handley, O.J.2    Schwenke, C.3
  • 4
    • 84871183930 scopus 로고    scopus 로고
    • Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY
    • RRN1184
    • Orth M, Handley OJ, Schwenke C, et al. Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY. PLoS Curr 2010;2:RRN1184.
    • (2010) PLoS Curr , vol.2
    • Orth, M.1    Handley, O.J.2    Schwenke, C.3
  • 5
    • 84857136429 scopus 로고    scopus 로고
    • Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study
    • Dorsey E. Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study. PLoS One 2012;7:e29522.
    • (2012) PLoS One , vol.7 , pp. e29522
    • Dorsey, E.1
  • 6
    • 48249114740 scopus 로고    scopus 로고
    • Detection of Huntington's disease decades before diagnosis: the Predict-HD study
    • Paulsen JS, Langbehn DR, Stout JC, et al. Detection of Huntington's disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry 2008;79:874-880.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 874-880
    • Paulsen, J.S.1    Langbehn, D.R.2    Stout, J.C.3
  • 7
    • 33745110056 scopus 로고    scopus 로고
    • Preparing for preventive clinical trials: the Predict-HD study
    • Paulsen JS, Hayden M, Stout JC, et al. Preparing for preventive clinical trials: the Predict-HD study. Arch Neurol 2006;63:883-890.
    • (2006) Arch Neurol , vol.63 , pp. 883-890
    • Paulsen, J.S.1    Hayden, M.2    Stout, J.C.3
  • 8
    • 33745865938 scopus 로고    scopus 로고
    • At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled
    • Huntington Study Group PHAROS Investigators
    • Huntington Study Group PHAROS Investigators. At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled. Arch Neurol 2006;63:991-996.
    • (2006) Arch Neurol , vol.63 , pp. 991-996
  • 9
    • 68249113963 scopus 로고    scopus 로고
    • Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data
    • Tabrizi SJ, Langbehn DR, Leavitt BR, et al. Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol 2009;8:791-801.
    • (2009) Lancet Neurol , vol.8 , pp. 791-801
    • Tabrizi, S.J.1    Langbehn, D.R.2    Leavitt, B.R.3
  • 10
    • 0032938295 scopus 로고    scopus 로고
    • Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
    • Wheeler VC, Auerbach W, White JK, et al. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet 1999;8:115-122.
    • (1999) Hum Mol Genet , vol.8 , pp. 115-122
    • Wheeler, V.C.1    Auerbach, W.2    White, J.K.3
  • 11
    • 0030613177 scopus 로고    scopus 로고
    • Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion
    • White JK, Auerbach W, Duyao MP, et al. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet 1997;17:404-410.
    • (1997) Nat Genet , vol.17 , pp. 404-410
    • White, J.K.1    Auerbach, W.2    Duyao, M.P.3
  • 12
    • 84855481293 scopus 로고    scopus 로고
    • Early alterations of brain cellular energy homeostasis in Huntington disease models
    • Mochel F, Durant B, Meng X, et al. Early alterations of brain cellular energy homeostasis in Huntington disease models. J Biol Chem 2012;287:1361-1370.
    • (2012) J Biol Chem , vol.287 , pp. 1361-1370
    • Mochel, F.1    Durant, B.2    Meng, X.3
  • 13
    • 80053969614 scopus 로고    scopus 로고
    • Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative
    • Fossale E, Seong IS, Coser KR, et al. Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Hum Mol Genet 2011;20:4258-4267.
    • (2011) Hum Mol Genet , vol.20 , pp. 4258-4267
    • Fossale, E.1    Seong, I.S.2    Coser, K.R.3
  • 14
    • 68249155312 scopus 로고    scopus 로고
    • Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models
    • Menalled L, El-Khodor BF, Patry M, et al. Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models. Neurobiol Dis 2009;35:319-336.
    • (2009) Neurobiol Dis , vol.35 , pp. 319-336
    • Menalled, L.1    El-Khodor, B.F.2    Patry, M.3
  • 15
    • 0037106316 scopus 로고    scopus 로고
    • Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice
    • Fossale E, Wheeler VC, Vrbanac V, et al. Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum Mol Genet 2002;11:2233-2241.
    • (2002) Hum Mol Genet , vol.11 , pp. 2233-2241
    • Fossale, E.1    Wheeler, V.C.2    Vrbanac, V.3
  • 16
    • 0037087771 scopus 로고    scopus 로고
    • Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice
    • Wheeler VC, Gutekunst CA, Vrbanac V, et al. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet 2002;11:633-640.
    • (2002) Hum Mol Genet , vol.11 , pp. 633-640
    • Wheeler, V.C.1    Gutekunst, C.A.2    Vrbanac, V.3
  • 17
    • 0034163497 scopus 로고    scopus 로고
    • Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice
    • Wheeler VC, White JK, Gutekunst CA, et al. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet 2000;9:503-513.
    • (2000) Hum Mol Genet , vol.9 , pp. 503-513
    • Wheeler, V.C.1    White, J.K.2    Gutekunst, C.A.3
  • 18
    • 84857674697 scopus 로고    scopus 로고
    • Long-term memory deficits in Huntington's disease are associated with reduced CBP histone acetylase activity
    • Giralt A, Puigdellivol M, Carreton O, et al. Long-term memory deficits in Huntington's disease are associated with reduced CBP histone acetylase activity. Hum Mol Genet 2012;21:1203-1216.
    • (2012) Hum Mol Genet , vol.21 , pp. 1203-1216
    • Giralt, A.1    Puigdellivol, M.2    Carreton, O.3
  • 19
    • 84871422859 scopus 로고    scopus 로고
    • Comprehensive behavioral and molecular characterization of a new knock-in mouse model of Huntington's disease: zQ175
    • Menalled LB, Kudwa AE, Miller S, et al. Comprehensive behavioral and molecular characterization of a new knock-in mouse model of Huntington's disease: zQ175. PLoS One 2012;7:e49838.
    • (2012) PLoS One , vol.7 , pp. e49838
    • Menalled, L.B.1    Kudwa, A.E.2    Miller, S.3
  • 20
    • 0028677475 scopus 로고
    • Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains
    • Persichetti F, Srinidhi J, Kanaley L, et al. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol Dis 1994;1:159-166.
    • (1994) Neurobiol Dis , vol.1 , pp. 159-166
    • Persichetti, F.1    Srinidhi, J.2    Kanaley, L.3
  • 21
    • 0027261537 scopus 로고
    • Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
    • Snell RG, MacMillan JC, Cheadle JP, et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993;4:393-397.
    • (1993) Nat Genet , vol.4 , pp. 393-397
    • Snell, R.G.1    MacMillan, J.C.2    Cheadle, J.P.3
  • 22
    • 0027176364 scopus 로고
    • The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
    • Andrew SE, Goldberg YP, Kremer B, et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 1993;4:398-403.
    • (1993) Nat Genet , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3
  • 23
    • 0027240431 scopus 로고
    • 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
  • 24
    • 84858074593 scopus 로고    scopus 로고
    • CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
    • Lee JM, Ramos EM, Lee JH, et al. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology 2012;78:690-695.
    • (2012) Neurology , vol.78 , pp. 690-695
    • Lee, J.M.1    Ramos, E.M.2    Lee, J.H.3
  • 25
    • 84864757021 scopus 로고    scopus 로고
    • TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease
    • Lee JH, Lee JM, Ramos EM, et al. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun 2012;424:404-408.
    • (2012) Biochem Biophys Res Commun , vol.424 , pp. 404-408
    • Lee, J.H.1    Lee, J.M.2    Ramos, E.M.3
  • 26
    • 84871210721 scopus 로고    scopus 로고
    • Assessment of cortical and striatal involvement in 523 Huntington disease brains
    • Hadzi TC, Hendricks AE, Latourelle JC, et al. Assessment of cortical and striatal involvement in 523 Huntington disease brains. Neurology 2012;79:1708-1715.
    • (2012) Neurology , vol.79 , pp. 1708-1715
    • Hadzi, T.C.1    Hendricks, A.E.2    Latourelle, J.C.3
  • 28
    • 79961208186 scopus 로고    scopus 로고
    • A tale of two factors: what determines the rate of progression in Huntington's disease? A longitudinal MRI study
    • Rosas HD, Reuter M, Doros G, et al. A tale of two factors: what determines the rate of progression in Huntington's disease? A longitudinal MRI study. Mov Disord 2011;26:1691-1697.
    • (2011) Mov Disord , vol.26 , pp. 1691-1697
    • Rosas, H.D.1    Reuter, M.2    Doros, G.3
  • 29
    • 0028099274 scopus 로고
    • Trinucleotide repeat length and progression of illness in Huntington's disease
    • Kieburtz K, MacDonald M, Shih C, et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet 1994;31:872-874.
    • (1994) J Med Genet , vol.31 , pp. 872-874
    • Kieburtz, K.1    MacDonald, M.2    Shih, C.3
  • 30
    • 0028071471 scopus 로고
    • Trinucleotide repeat length and rate of progression of Huntington's disease
    • Illarioshkin SN, Igarashi S, Onodera O, et al. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann Neurol 1994;36:630-635.
    • (1994) Ann Neurol , vol.36 , pp. 630-635
    • Illarioshkin, S.N.1    Igarashi, S.2    Onodera, O.3
  • 32
    • 10744225124 scopus 로고    scopus 로고
    • Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease
    • Djousse L, Knowlton B, Hayden M, et al. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A 2003;119A:279-282.
    • (2003) Am J Med Genet A , vol.119 A , pp. 279-282
    • Djousse, L.1    Knowlton, B.2    Hayden, M.3
  • 33
    • 12144288251 scopus 로고    scopus 로고
    • Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
    • Wexler NS, Lorimer J, Porter J, et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A 2004;101:3498-3503.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 3498-3503
    • Wexler, N.S.1    Lorimer, J.2    Porter, J.3
  • 34
    • 72249116078 scopus 로고    scopus 로고
    • Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease
    • Aziz NA, Jurgens CK, Landwehrmeyer GB, et al. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology 2009;73:1280-1285.
    • (2009) Neurology , vol.73 , pp. 1280-1285
    • Aziz, N.A.1    Jurgens, C.K.2    Landwehrmeyer, G.B.3
  • 35
    • 0028260436 scopus 로고
    • Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat
    • Ambrose CM, Duyao MP, Barnes G, et al. Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat Cell Mol Genet 1994;20:27-38.
    • (1994) Somat Cell Mol Genet , vol.20 , pp. 27-38
    • Ambrose, C.M.1    Duyao, M.P.2    Barnes, G.3
  • 36
    • 0029082383 scopus 로고
    • Inactivation of the mouse Huntington's disease gene homolog Hdh
    • Duyao MP, Auerbach AB, Ryan A, et al. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 1995;269:407-410.
    • (1995) Science , vol.269 , pp. 407-410
    • Duyao, M.P.1    Auerbach, A.B.2    Ryan, A.3
  • 37
    • 0029055717 scopus 로고
    • Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
    • Nasir J, Floresco SB, O'Kusky JR, et al. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 1995;81:811-823.
    • (1995) Cell , vol.81 , pp. 811-823
    • Nasir, J.1    Floresco, S.B.2    O'Kusky, J.R.3
  • 38
    • 0035888618 scopus 로고    scopus 로고
    • The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin
    • Auerbach W, Hurlbert MS, Hilditch-Maguire P, et al. The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Hum Mol Genet 2001;10:2515-2523.
    • (2001) Hum Mol Genet , vol.10 , pp. 2515-2523
    • Auerbach, W.1    Hurlbert, M.S.2    Hilditch-Maguire, P.3
  • 39
    • 84894379134 scopus 로고    scopus 로고
    • A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice
    • Holter SM, Stromberg M, Kovalenko M, et al. A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice. PLoS One 2013;8:e80923.
    • (2013) PLoS One , vol.8 , pp. e80923
    • Holter, S.M.1    Stromberg, M.2    Kovalenko, M.3
  • 40
    • 79959796625 scopus 로고    scopus 로고
    • HD CAG-correlated gene expression changes support a simple dominant gain of function
    • Jacobsen JC, Gregory GC, Woda JM, et al. HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet 2011;20:2846-2860.
    • (2011) Hum Mol Genet , vol.20 , pp. 2846-2860
    • Jacobsen, J.C.1    Gregory, G.C.2    Woda, J.M.3
  • 41
    • 84862831145 scopus 로고    scopus 로고
    • Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region
    • Lee JM, Gillis T, Mysore JS, et al. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet 2012;90:434-444.
    • (2012) Am J Hum Genet , vol.90 , pp. 434-444
    • Lee, J.M.1    Gillis, T.2    Mysore, J.S.3
  • 42
    • 79955758366 scopus 로고    scopus 로고
    • HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia
    • Warby SC, Visscher H, Collins JA, et al. HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 2011;19:561-566.
    • (2011) Eur J Hum Genet , vol.19 , pp. 561-566
    • Warby, S.C.1    Visscher, H.2    Collins, J.A.3
  • 44
    • 0030937818 scopus 로고    scopus 로고
    • Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
    • Rubinsztein DC, Leggo J, Chiano M, et al. Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc Natl Acad Sci U S A 1997;94:3872-3876.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 3872-3876
    • Rubinsztein, D.C.1    Leggo, J.2    Chiano, M.3
  • 45
    • 33846436448 scopus 로고    scopus 로고
    • Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds
    • Andresen JM, Gayan J, Cherny SS, et al. Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J Med Genet 2007;44:44-50.
    • (2007) J Med Genet , vol.44 , pp. 44-50
    • Andresen, J.M.1    Gayan, J.2    Cherny, S.S.3
  • 46
    • 1842471357 scopus 로고    scopus 로고
    • Experimental basis for the putative role of GluR6/kainate glutamate receptor subunit in Huntington's disease natural history
    • Diguet E, Fernagut PO, Normand E, Centelles L, Mulle C, Tison F. Experimental basis for the putative role of GluR6/kainate glutamate receptor subunit in Huntington's disease natural history. Neurobiol Dis 2004;15:667-675.
    • (2004) Neurobiol Dis , vol.15 , pp. 667-675
    • Diguet, E.1    Fernagut, P.O.2    Normand, E.3    Centelles, L.4    Mulle, C.5    Tison, F.6
  • 47
    • 0942290682 scopus 로고    scopus 로고
    • The gender effect in juvenile Huntington disease patients of Italian origin
    • Cannella M, Gellera C, Maglione V, et al. The gender effect in juvenile Huntington disease patients of Italian origin. Am J Med Genet B Neuropsychiatr Genet 2004;125B:92-98.
    • (2004) Am J Med Genet B Neuropsychiatr Genet , vol.125 B , pp. 92-98
    • Cannella, M.1    Gellera, C.2    Maglione, V.3
  • 48
    • 0038042172 scopus 로고    scopus 로고
    • Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India
    • Chattopadhyay B, Ghosh S, Gangopadhyay PK, et al. Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neurosci Lett 2003;345:93-96.
    • (2003) Neurosci Lett , vol.345 , pp. 93-96
    • Chattopadhyay, B.1    Ghosh, S.2    Gangopadhyay, P.K.3
  • 49
    • 0032867615 scopus 로고    scopus 로고
    • Evidence for the GluR6 gene associated with younger onset age of Huntington's disease
    • MacDonald ME, Vonsattel JP, Shrinidhi J, et al. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 1999;53:1330-1332.
    • (1999) Neurology , vol.53 , pp. 1330-1332
    • MacDonald, M.E.1    Vonsattel, J.P.2    Shrinidhi, J.3
  • 50
    • 33750444249 scopus 로고    scopus 로고
    • Genetic analysis of the GRIK2 modifier effect in Huntington's disease
    • Zeng W, Gillis T, Hakky M, et al. Genetic analysis of the GRIK2 modifier effect in Huntington's disease. BMC Neurosci 2006;7:62.
    • (2006) BMC Neurosci , vol.7 , pp. 62
    • Zeng, W.1    Gillis, T.2    Hakky, M.3
  • 51
    • 78650865385 scopus 로고    scopus 로고
    • Localization of sequence variations in PGC-1alpha influence their modifying effect in Huntington disease
    • Che HV, Metzger S, Portal E, Deyle C, Riess O, Nguyen HP. Localization of sequence variations in PGC-1alpha influence their modifying effect in Huntington disease. Mol Neurodegener 2011;6:1.
    • (2011) Mol Neurodegener , vol.6 , pp. 1
    • Che, H.V.1    Metzger, S.2    Portal, E.3    Deyle, C.4    Riess, O.5    Nguyen, H.P.6
  • 53
    • 84870996209 scopus 로고    scopus 로고
    • Population stratification may bias analysis of PGC-1alpha as a modifier of age at Huntington disease motor onset
    • Ramos EM, Latourelle JC, Lee JH, et al. Population stratification may bias analysis of PGC-1alpha as a modifier of age at Huntington disease motor onset. Hum Genet 2012;131:1833-1840.
    • (2012) Hum Genet , vol.131 , pp. 1833-1840
    • Ramos, E.M.1    Latourelle, J.C.2    Lee, J.H.3
  • 54
    • 58649094617 scopus 로고    scopus 로고
    • The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease
    • Weydt P, Soyal SM, Gellera C, et al. The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease. Mol Neurodegener 2009;4:3.
    • (2009) Mol Neurodegener , vol.4 , pp. 3
    • Weydt, P.1    Soyal, S.M.2    Gellera, C.3
  • 55
    • 84891593032 scopus 로고    scopus 로고
    • A single nucleotide polymorphism in the coding region of PGC-1alpha is a male-specific modifier of Huntington disease age-at-onset in a large European cohort
    • Weydt P, Soyal SM, Landwehrmeyer GB, Patsch W. A single nucleotide polymorphism in the coding region of PGC-1alpha is a male-specific modifier of Huntington disease age-at-onset in a large European cohort. BMC Neurol 2014;14:1.
    • (2014) BMC Neurol , vol.14 , pp. 1
    • Weydt, P.1    Soyal, S.M.2    Landwehrmeyer, G.B.3    Patsch, W.4
  • 56
    • 84864526960 scopus 로고    scopus 로고
    • A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset
    • Soyal SM, Felder TK, Auer S, et al. A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset. Hum Mol Genet 2012;21:3461-3473.
    • (2012) Hum Mol Genet , vol.21 , pp. 3461-3473
    • Soyal, S.M.1    Felder, T.K.2    Auer, S.3
  • 57
    • 48949118889 scopus 로고    scopus 로고
    • Genome-wide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds
    • Gayan J, Brocklebank D, Andresen JM, et al. Genome-wide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds. Genet Epidemiol 2008;32:445-453.
    • (2008) Genet Epidemiol , vol.32 , pp. 445-453
    • Gayan, J.1    Brocklebank, D.2    Andresen, J.M.3
  • 58
    • 33749416817 scopus 로고    scopus 로고
    • Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study
    • Li JL, Hayden MR, Warby SC, et al. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet 2006;7:71.
    • (2006) BMC Med Genet , vol.7 , pp. 71
    • Li, J.L.1    Hayden, M.R.2    Warby, S.C.3
  • 59
    • 3042678165 scopus 로고    scopus 로고
    • Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16
    • Djousse L, Knowlton B, Hayden MR, et al. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics 2004;5:109-114.
    • (2004) Neurogenetics , vol.5 , pp. 109-114
    • Djousse, L.1    Knowlton, B.2    Hayden, M.R.3
  • 60
    • 84887286407 scopus 로고    scopus 로고
    • Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches
    • Pinto RM, Dragileva E, Kirby A, et al. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. PLoS Genet 2013;9:e1003930.
    • (2013) PLoS Genet , vol.9 , pp. e1003930
    • Pinto, R.M.1    Dragileva, E.2    Kirby, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.