| 1 | AR, SBMA
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| Mitochondrial abnormalities in spinal and bulbar muscular atrophy.
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| Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH.
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| Hum Mol Genet 18(1):27-42. Epub 2008 Sep 29.
2009
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| 2 | AR, SBMA
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| CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA.
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| Suzuki K, Katsuno M, Banno H, Takeuchi Y, Atsuta N, Ito M, Watanabe H, Yamashita F, Hori N, Nakamura T, Hirayama M, Tanaka F, Sobue G.
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| Brain 131(Pt 1):229-39. Epub 2007 Dec 4.PMID: 18056738 2008
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| 3 | SCA1, ATXN1, SCA2, ATXN2, MJD, ATXN3, SCA6, CACNA1A, SCA7, ATXN7, SCA17, TBP, DRPLA, ATN1, SBMA, AR
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| Transcriptional alterations and chromatin remodeling in polyglutamine diseases.
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| Helmlinger D, Tora L, Devys D.
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| Trends Genet 22(10):562-70. Epub 2006 Sep 5. 2006
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| 4 | SBMA, AR
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| Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.
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| Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M, Tanaka F, Tamakoshi A, Sobue G.
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| Brain 129(Pt 6):1446-55. Epub 2006 Apr 18. 2006
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| 5 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
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| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 6 | AR, SBMA
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| Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tract.
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| Simeoni S, Mancini MA, Stenoien DL, Marcelli M, Weigel NL, Zanisi M, Martini L, Poletti A.
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| Hum Mol Genet 9(1):133-44 2000
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| 7 | AR, SBMA
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| Kennedy's disease : caspase cleavage of the androgen receptor is a crucial event in cytotoxicity.
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| Ellerby LM, et al.
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| J Neurochem 72 : 185-195. 1999
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| 8 | AR, SBMA
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| Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone.
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| Stenoien DL, et al.
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| Hum Mol Genet 8(5):731-41. 1999
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| 9 | AR, SBMA
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| Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor-Gene Expression Level.
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| Tanaka F, et al.
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| Am J Hum Genet 65(4):966-973 1999
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| 10 | RAN, SBMA
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| The linkage of Kennedy's neuron disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator.
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| Hsiao PW, Lin DL, Nakao R, Chang C.
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| J Biol Chem 274(29):20229-34. 1999
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| 11 | AR, SBMA
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| Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy.
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| Butler R, Leigh PN, McPhaul MJ, Gallo JM.
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| Hum Mol Genet 7(1):121-7. 1998
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| 12 | AR, SBMA
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| Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy.
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| Merry DE, et al.
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| Hum Mol Genet 7 : 693-701. 1998
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| 13 | AR, CASP3, SBMA
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| Caspase-3 cleaves the expanded androgen receptor protein of spinal and bulbar muscular atrophy in a polyglutamine repeat length-dependent manner.
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| Kobayashi Y, Miwa S, Merry DE, Kume A, Mei L, Doyu M, Sobue G.
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| Biochem Biophys Res Commun 252(1):145-50. 1998
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| 14 | AR, SBMA
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| CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation.
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| Neuschmid-Kaspar F, et al.
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| Mol Cell Endocrinol 117 : 149-156. 1996
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| 15 | SBMA
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| Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene.
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| Watanabe M, et al.
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| Clin Genet 50 : 133-137. 1996
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| 16 | SBMA
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| CAG repeat length variation in sperm from a patient with Kennedy's disease.
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| Zhang L, et al.
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| Hum Mol Genet 4 : 303-305. 1995
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| 17 | SBMA
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| X-linked recessive bulbospinal neuronopathy : clinical phenotypes and CAG repeat size in androgen receptor gene.
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| Shimada N, et al.
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| Muscle Nerve 18 : 1378-1384. 1995
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| 18 | SBMA
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| Aberrant androgen action and increased size of tandem CAG repeat in androgen receptor gene in X-linked recessive bulbospinal neuronopathy.
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| Sobue G, et al.
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| J Neurol Sci 121 : 167-171. 1994
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| 19 | AR, SBMA
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| Androgen receptor mRNA with increased size of tandem CAG repeat is widely expressed in the neural and nonneural tissues of X-linked recessive bulbospinal neuronopathy.
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| Doyu M, et al.
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| J Neurol Sci 127 : 43-47. 1994
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| 20 | AR, SBMA
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| Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy.
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| Mhatre AN, et al.
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| Nat Genet 5 : 184-187. 1993
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| 21 | SBMA
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| Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.
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| Biancalana V, et al.
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| Hum Mol Genet 1 : 255-258. 1992
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| 22 | SBMA
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| Spinal and bulbar muscular atrophy (SBMA) : characterization of mutant androgen receptors having an amplified poly-glutamine tract.
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| Pinsky L, et al.
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| Am J Hum Genet 51 : A41. 1992
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| 23 | SBMA
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| Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
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| La Spada AR, et al.
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| Nat Genet 2 : 301-304. 1992
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| 24 | SBMA
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| A novel primer extension method to detect the number of CAG repeats in the androgen receptor gene in families with X-linked spinal and bulbar muscular atrophy.
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| Yamamoto Y, et al.
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| Biochem Biophys Res Commun 182 : 507-513. 1992
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| 25 | SBMA, AR
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| X-linked spinomuscular atrophy; a kindred with associated abnormal androgen receptor binding.
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| Warner CL, et al.
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| Neurology 42 : 2181-2184. 1992
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| 26 | SBMA
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| Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy.
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| Belsham DD, et al.
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| J Neurol Sci 112 : 133-138. 1992
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| 27 | SBMA
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| Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene.
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| Doyu M, et al.
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| Ann Neurol 32 : 707-710. 1992
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| 28 | SBMA
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| Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
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| La Spada AR, et al.
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| Nature 352 : 77-79. 1991
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| 29 | SBMA
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| Refinement of spinal and bulbar muscular atrophy (SBMA) localization by linkage analysis.
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| Ferlini A, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2064. 1991
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| 30 | SBMA
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| A candidate gene for X-linked spinal muscular atrophy.
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| Fischbeck KH, et al.
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| Adv Neurol 56 : 209-213. 1991
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| 31 | CMTX1, SBMA
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| Evidence that X-linked Charcot-Marie-Tooth disease and X-linked bulbospinal neuronopathy loci are on opposite sides of DXYS1.
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| Kelly TE, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 638. 1987
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| 32 | SBMA
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| X-linked neuropathy : gene localization with DNA probes.
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| Fischbeck KH, et al.
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| Ann Neurol 20 : 527-532. 1986
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| 33 | SBMA
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| Localisation of the gene for X-linked spinal muscular atrophy.
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| Fischbeck KH, et al.
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| Neurology 36 : 1595-1598. 1986
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