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Res."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0345","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1159\/000080221","article-title":"The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction","volume":"52","author":"Gu","year":"2004","journal-title":"Eur. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0350","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1001\/archneur.62.1.46","article-title":"Polyglutamine diseases and transport problems: deadly traffic jams on neuronal highways","volume":"62","author":"Gunawardena","year":"2005","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0355","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/hmg\/ddi472","article-title":"Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3","volume":"15","author":"Haacke","year":"2006","journal-title":"Hum. Mol. 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Sci."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0370","doi-asserted-by":"crossref","first-page":"e13695","DOI":"10.1371\/journal.pone.0013695","article-title":"Splice isoforms of the polyglutamine disease protein ataxin-3 exhibit similar enzymatic yet different aggregation properties","volume":"5","author":"Harris","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0375","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1046\/j.1440-1819.2003.01102.x","article-title":"Immunohistochemical study of neuronal intranuclear and cytoplasmic inclusions in Machado\u2013Joseph disease","volume":"57","author":"Hayashi","year":"2003","journal-title":"Psychiatry Clin. 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Biotechnol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib1150","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.nbd.2010.01.005","article-title":"Polyglutamine-induced neurodegeneration in SCA3 is not mitigated by non-expanded ataxin-3: conclusions from double-transgenic mouse models","volume":"38","author":"Hubener","year":"2010","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0410","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.bbrc.2005.07.008","article-title":"Dynamic regulation of molecular chaperone gene expression in polyglutamine disease","volume":"334","author":"Huen","year":"2005","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0415","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1007\/s100380170060","article-title":"The genomic structure and expression of MJD, the Machado\u2013Joseph disease gene","volume":"46","author":"Ichikawa","year":"2001","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0420","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/hmg\/5.7.923","article-title":"Intergenerational instability of the CAG repeat of the gene for Machado\u2013Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat","volume":"5","author":"Igarashi","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0425","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1038\/ng0696-196","article-title":"Expanded polyglutamine in the Machado\u2013Joseph disease protein induces cell death in vitro and in vivo","volume":"13","author":"Ikeda","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0430","first-page":"255","article-title":"Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations","volume":"155","author":"Iwabuchi","year":"1999","journal-title":"Rev. Neurol. (Paris)"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0435","doi-asserted-by":"crossref","first-page":"11635","DOI":"10.1074\/jbc.M412042200","article-title":"Co-chaperone CHIP associates with expanded polyglutamine protein and promotes their degradation by proteasomes","volume":"280","author":"Jana","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0440","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1001\/archneur.58.6.899","article-title":"Neurologic findings in Machado\u2013Joseph disease: relation with disease duration, subtypes, and (CAG)n","volume":"58","author":"Jardim","year":"2001","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0445","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.expneurol.2006.03.029","article-title":"Potassium channel dysfunction and depolarized resting membrane potential in a cell model of SCA3","volume":"201","author":"Jeub","year":"2006","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0450","doi-asserted-by":"crossref","first-page":"4843","DOI":"10.1093\/hmg\/ddp456","article-title":"Preventing ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3","volume":"18","author":"Jung","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0455","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng1194-221","article-title":"CAG expansions in a novel gene for Machado\u2013Joseph disease at chromosome 14q32.1","volume":"8","author":"Kawaguchi","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0460","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1001\/archneur.61.11.1757","article-title":"Cognitive impairments in Machado\u2013Joseph disease","volume":"61","author":"Kawai","year":"2004","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0465","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1111\/j.1471-4159.2006.03895.x","article-title":"Expanded polyglutamines impair synaptic transmission and ubiquitin-proteasome system in Caenorhabditis elegans","volume":"98","author":"Khan","year":"2006","journal-title":"J. Neurochem."},{"issue":"Pt 9","key":"10.1016\/j.pneurobio.2011.11.006_bib0470","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1093\/brain\/121.9.1687","article-title":"Autosomal dominant cerebellar ataxia type I, MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3","volume":"121","author":"Klockgether","year":"1998","journal-title":"Brain"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib1155","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1126\/science.1675488","article-title":"Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n","volume":"252","author":"Kremer","year":"1991","journal-title":"Science"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib1160","doi-asserted-by":"crossref","first-page":"47358","DOI":"10.1074\/jbc.M207783200","article-title":"Functional ATPase activity of p97\/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells","volume":"277","author":"Kobayashi","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0475","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/ncb2200","article-title":"The Machado\u2013Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis","volume":"13","author":"Kuhlbrodt","year":"2011","journal-title":"Nat. Cell. Biol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0480","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/352077a0","article-title":"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy","volume":"352","author":"La Spada","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0485","doi-asserted-by":"crossref","first-page":"4892","DOI":"10.1074\/jbc.M110.158030","article-title":"The UBX protein SAKS1 negatively regulates endoplasmic reticulum-associated degradation and p97-dependent degradation","volume":"286","author":"LaLonde","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0490","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1001\/archneur.57.5.733","article-title":"Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype","volume":"57","author":"Landau","year":"2000","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0495","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/ana.410360318","article-title":"Homozygous inheritance of the Machado\u2013Joseph disease gene","volume":"36","author":"Lang","year":"1994","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0500","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1159\/000472162","article-title":"Machado\u2013Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation","volume":"4","author":"Lerer","year":"1996","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib1165","doi-asserted-by":"crossref","first-page":"e29","DOI":"10.1371\/journal.pbio.0060029","article-title":"Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila","volume":"6","author":"Lessing","year":"2008","journal-title":"PLoS Biol"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0505","doi-asserted-by":"crossref","first-page":"45004","DOI":"10.1074\/jbc.M205259200","article-title":"Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities","volume":"277","author":"Li","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib1170","doi-asserted-by":"crossref","first-page":"37694","DOI":"10.1074\/jbc.M705211200","article-title":"Suppression of polyglutamine toxicity by the yeast Sup35 prion domain in Drosophila","volume":"282","author":"Li","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0510","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1038\/nature06909","article-title":"RNA toxicity is a component of ataxin-3 degeneration in Drosophila","volume":"453","author":"Li","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0515","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/nature06731","article-title":"Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1","volume":"452","author":"Lim","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib1175","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.cell.2006.03.032","article-title":"A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration","volume":"125","author":"Lim","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0520","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1212\/WNL.30.3.319","article-title":"Clinical criteria for diagnosis of Machado\u2013Joseph disease: report of a non-Azorena Portuguese family","volume":"30","author":"Lima","year":"1980","journal-title":"Neurology"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0525","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1159\/000090035","article-title":"Population genetics of wild-type CAG repeats in the Machado\u2013Joseph disease gene in Portugal","volume":"60","author":"Lima","year":"2005","journal-title":"Hum. Hered."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0530","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1159\/000051154","article-title":"Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado\u2013Joseph disease from the Azores Islands (Portugal)","volume":"4","author":"Lima","year":"2001","journal-title":"Community Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0535","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/BF03402204","article-title":"Mutation detection in Machado\u2013Joseph disease using repeat expansion detection","volume":"2","author":"Lindblad","year":"1996","journal-title":"Mol. Med."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0540","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0167-4781(99)00004-4","article-title":"Conserved domains and lack of evidence for polyglutamine length polymorphism in the chicken homolog of the Machado\u2013Joseph disease gene product ataxin-3","volume":"1444","author":"Linhartova","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0545","doi-asserted-by":"crossref","first-page":"185","DOI":"10.3109\/01677068409107084","article-title":"Machado\u2013Joseph disease in an American-Italian family","volume":"1","author":"Livingstone","year":"1984","journal-title":"J. Neurogenet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0550","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ana.410400211","article-title":"Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado\u2013Joseph disease","volume":"40","author":"Lopes-Cendes","year":"1996","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0555","doi-asserted-by":"crossref","first-page":"e5834","DOI":"10.1371\/journal.pone.0005834","article-title":"Nucleocytoplasmic shuttling activity of ataxin-3","volume":"4","author":"Macedo-Ribeiro","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0560","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1001\/archneur.58.11.1821","article-title":"Improvement in the molecular diagnosis of Machado\u2013Joseph disease","volume":"58","author":"Maciel","year":"2001","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0565","first-page":"54","article-title":"Correlation between CAG repeat length and clinical features in Machado\u2013Joseph disease","volume":"57","author":"Maciel","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0570","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/sj.ejhg.5200264","article-title":"Study of three intragenic polymorphisms in the Machado\u2013Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract","volume":"7","author":"Maciel","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0575","first-page":"993","article-title":"Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado\u2013Joseph disease patients","volume":"60","author":"Maciel","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0580","doi-asserted-by":"crossref","first-page":"12700","DOI":"10.1073\/pnas.0506344102","article-title":"Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain","volume":"102","author":"Mao","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0585","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1007\/s11910-002-0072-8","article-title":"The spinocerebellar ataxias: order emerges from chaos","volume":"2","author":"Margolis","year":"2002","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"10.1016\/j.pneurobio.2011.11.006_bib0590","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1001\/archneur.64.10.1502","article-title":"Asian origin for the worldwide-spread mutational event in Machado\u2013Joseph disease","volume":"64","author":"Martins","year":"2007","journal-title":"Arch. 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