DOI: 10.1093/hmg/ddl181. RNA-dominant diseases

RNA-dominant diseases

10.1093/hmg/ddl181

Crossref journal-article

Oxford University Press (OUP)

Human Molecular Genetics (286)

Bibliography

Osborne, R. J., & Thornton, C. A. (2006). RNA-dominant diseases. Human Molecular Genetics, 15(suppl_2), R162âR169.

Authors 2

Robert J. Osborne (first)
Charles A. Thornton (additional)

References 86 Referenced 166

10.1016/j.cell.2006.06.009 / Cell / TUF love for ‘junk’ DNA by Willingham (2006)
10.1016/0092-8674(92)90154-5 / Cell / Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member by Brook (1992)
10.1126/science.1062125 / Science / Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 by Liquori (2001)
10.1212/WNL.43.12.2674 / Neurology / Somatic instability of CTG repeat in myotonic dystrophy by Ashizawa (1993)
10.1002/ana.410350116 / Ann. Neurol. / Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes by Thornton (1994)
10.1016/j.molcel.2005.09.002 / Mol. Cell / Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF by Cho (2005)
10.1038/ng0897-402 / Nat. Genet. / Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of the DMAHP gene by Klesert (1997)
10.1038/ng0897-407 / Nat. Genet. / Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene by Thornton (1997)
10.1083/jcb.128.6.995 / J. Cell Biol. / Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues by Taneja (1995)
10.1073/pnas.94.14.7388 / Proc. Natl Acad. Sci. USA / Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts by Davis (1997)
10.1016/S0002-9440(10)63894-1 / Am. J. Pathol. / Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy by Furling (2003)
10.1016/j.tig.2004.08.004 / Trends Genet. / Pathogenic RNA repeats: an expanding role in genetic disease by Ranum (2004)
10.1093/hmg/10.23.2717 / Hum. Mol. Genet. / Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities by Seznec (2001)
10.1126/science.289.5485.1769 / Science / Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat by Mankodi (2000)
10.1093/hmg/ddl137 / Hum. Mol. Genet. / MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1 by de Haro (2006)
10.1093/brain/awh210 / Brain / Homozygosity for CCTG mutation in myotonic dystrophy type 2 by Schoser (2004)
10.1093/hmg/ddl103 / Hum. Mol. Genet. / DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression by Margolis (2006)
10.1212/01.wnl.0000198227.91131.1e / Neurology / Outcome and effect of pregnancy in myotonic dystrophy type 2 by Rudnik-Schoneborn (2006)
10.1126/science.280.5364.737 / Science / Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy by Philips (1998)
10.1093/emboj/19.17.4439 / EMBO J. / Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy by Miller (2000)
10.1146/annurev.neuro.29.051605.113014 / Annu. Rev. Neurosci. / RNA-mediated neuromuscular disorders by Ranum (2006)
10.1093/nar/24.22.4407 / Nucleic Acids Res. / Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy by Timchenko (1996)
10.1093/nar/27.17.3534 / Nucleic Acids Res. / Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein by Michalowski (1999)
10.1093/nar/29.13.2766 / Nucleic Acids Res. / In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts by Fardaei (2001)
10.1093/hmg/ddh327 / Hum. Mol. Genet. / Myotonic dystrophy type 1 associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins, and deregulated alternative splicing in neurons by Jiang (2004)
10.1002/ana.10763 / Ann. Neurol. / Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2 by Mankodi (2003)
10.1006/dbio.1997.8833 / Dev.Biol. / The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2 by Artero (1998)
10.1242/dev.124.21.4321 / Development / muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins by Begemann (1997)
10.1038/sj.emboj.7600300 / EMBO J. / Muscleblind proteins regulate alternative splicing by Ho (2004)
10.1093/hmg/11.7.805 / Hum. Mol. Genet. / Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells by Fardaei (2002)
10.1016/S1567-133X(03)00064-4 / Gene Expr. Patterns / Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3 by Kanadia (2003)
10.1101/gad.1048803 / Genes Dev. / Pre-mRNA splicing and human disease by Faustino (2003)
10.1093/hmg/ddl132 / Hum. Mol. Genet / Failure of MBNL1-dependent postnatal splicing transitions in myotonic dystrophy by Lin (2006)
10.1093/hmg/11.19.2297 / Hum. Mol. Genet. / Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells by Buj-Bello (2002)
10.1093/nar/27.22.4517 / Nucleic Acids Res. / CUG repeat binding protein (CUGBP1) interacts with the 5′ region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms by Timchenko (1999)
10.1128/MCB.21.20.6927-6938.2001 / Mol. Cell. Biol. / Molecular basis for impaired muscle differentiation in myotonic dystrophy by Timchenko (2001)
10.1038/ncb1335 / Nat. Cell Biol. / RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1 by Adereth (2005)
10.1126/science.1379744 / Science / The skeletal muscle chloride channel in dominant and recessive human myotonia by Koch (1992)
10.1016/S1097-2765(02)00563-4 / Mol. Cell / Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy by Mankodi (2002)
10.1016/S1097-2765(02)00572-5 / Mol. Cell / Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing by Charlet-B (2002)
10.1038/ng704 / Nat. Genet. / Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy by Savkur (2001)
10.1172/JCI109198 / J. Clin. Invest. / Decreased insulin sensitivity of forearm muscle in myotonic dystrophy by Moxley (1978)
10.1073/pnas.0505873102 / Proc. Natl Acad. Sci. USA / The structural basis of myotonic dystrophy from the crystal structure of CUG repeats by Mooers (2005)
10.1074/jbc.272.49.31079 / J. Biol. Chem. / CUG repeats present in myotonin kinase RNA form metastable slippery hairpins by Napierala (1997)
10.1017/S1355838200991544 / RNA / Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR by Tian (2000)
10.1161/01.RES.0000193598.89753.e3 / Circ. Res. / Nuclear RNA foci in the heart in myotonic dystrophy by Mankodi (2005)
10.1093/hmg/10.19.2165 / Hum. Mol. Genet. / Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2 by Mankodi (2001)
10.1126/science.1088583 / Science / A muscleblind knockout model for myotonic dystrophy by Kanadia (2003)
10.1093/hmg/ddi162 / Hum. Mol. Genet. / Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy by Ho (2005)
10.1074/jbc.M410781200 / J. Biol. Chem. / MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1 by Dansithong (2005)
10.1212/WNL.57.1.127 / Neurology / Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X by Hagerman (2001)
10.1086/386296 / Am. J. Hum. Genet. / The fragile-X premutation: a maturing perspective by Hagerman (2004)
10.1136/jmg.2006.042374 / J. Med. Genet / Size bias of fragile X premutation alleles in late-onset movement disorders by Jacquemont (2006)
10.1093/hmg/10.14.1449 / Hum. Mol. Genet. / Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers by Kenneson (2001)
10.1086/302720 / Am. J. Hum. Genet. / Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome by Tassone (2000)
10.1017/S1355838202020642 / RNA / Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations by Primerano (2002)
10.1126/science.7732383 / Science / Translational suppression by trinucleotide repeat expansion at FMR1 by Feng (1995)
10.1093/brain/awf184 / Brain / Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers by Greco (2002)
10.1093/brain/awh683 / Brain / Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS) by Greco (2006)
10.1086/374321 / Am. J. Hum. Genet. / Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates by Jacquemont (2003)
10.1016/S0896-6273(03)00533-6 / Neuron / RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila by Jin (2003)
10.1093/hmg/ddg114 / Hum. Mol. Genet. / The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome by Willemsen (2003)
10.1016/j.bbr.2005.03.007 / Behav. Brain Res. / Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS) by Van Dam (2005)
10.1093/brain/awh650 / Brain / Protein composition of the intranuclear inclusions of FXTAS by Iwahashi (2006)
10.4161/rna.1.2.1035 / RNA Biol. / FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS) by Tassone (2004)
10.1093/hmg/8.11.1975 / Hum. Mol. Genet. / Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model by Amack (1999)
10.1093/hmg/ddi394 / Hum. Mol. Genet. / Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells by Arocena (2005)
10.1038/nrg1691 / Nat. Rev. Genet. / Diseases of unstable repeat expansion: mechanisms and common principles by Gatchel (2005)
10.1093/nar/gkg766 / Nucleic Acids Res. / RNA structure of trinucleotide repeats associated with human neurological diseases by Sobczak (2003)
10.1093/hmg/10.15.1531 / Hum. Mol. Genet. / Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue by Peel (2001)
10.1242/jcs.02404 / J. Cell Sci. / Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy by Ho (2005)
10.1080/14734220510007905 / Cerebellum / Pathogenesis of spinocerebellar ataxias viewed from the RNA perspective by Michlewski (2005)
10.1093/hmg/5.2.177 / Hum. Mol. Genet / Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript by Goldberg (1996)
10.1093/hmg/ddi096 / Hum. Mol. Genet. / The pathogenic agent in Drosophila models of ‘polyglutamine’ diseases by McLeod (2005)
10.1038/7710 / Nat. Genet. / An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) by Koob (1999)
10.1038/ng1827 / Nat. Genet. / Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8 by Moseley (2006)
{'key': 'key\n\t\t\t\t20171012140144_DDL181C77', 'first-page': '1', 'article-title': "Huntington's disease like-2: review and update", 'volume': '14', 'author': 'Margolis', 'year': '2005', 'journal-title': 'Acta Neurol. Taiwan'} / Acta Neurol. Taiwan / Huntington's disease like-2: review and update by Margolis (2005)
10.1038/ng760 / Nat. Genet. / A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2 by Holmes (2001)
10.1038/nrg1689 / Nat. Rev. Genet. / Repeat instability: mechanisms of dynamic mutations by Pearson (2005)
10.1093/hmg/ddi392 / Hum. Mol. Genet. / RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration by Lin (2005)
10.1038/nature01535 / Nature / An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene by Hirotsune (2003)
10.1073/pnas.0604970103 / Proc. Natl Acad. Sci. / Reversal of RNA mis-splicing and myotonia following muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy by Kanadia (2006)
10.1074/jbc.M501591200 / J. Biol. Chem. / Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells by Langlois (2005)
10.1038/sj.gt.3301955 / Gene Ther. / Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions by Furling (2003)
10.1093/hmg/ddi223 / Hum. Mol. Genet. / Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1 by Kimura (2005)
10.1093/hmg/10.19.2143 / Hum. Mol. Genet. / Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1 by Sergeant (2001)

Dates

Type	When
Created	18 years, 11 months ago (Sept. 20, 2006, 7:26 a.m.)
Deposited	2 years, 3 months ago (May 8, 2023, 6:41 p.m.)
Indexed	2 months ago (July 2, 2025, 2:12 p.m.)
Issued	18 years, 10 months ago (Oct. 15, 2006)
Published	18 years, 10 months ago (Oct. 15, 2006)
Published Online	18 years, 10 months ago (Oct. 15, 2006)
Published Print	18 years, 10 months ago (Oct. 15, 2006)

Funders 0

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BibTeX

@article{Osborne_2006, title={RNA-dominant diseases}, volume={15}, ISSN={0964-6906}, url={http://dx.doi.org/10.1093/hmg/ddl181}, DOI={10.1093/hmg/ddl181}, number={suppl_2}, journal={Human Molecular Genetics}, publisher={Oxford University Press (OUP)}, author={Osborne, Robert J. and Thornton, Charles A.}, year={2006}, month=oct, pages={R162–R169} }

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      "first-page": "1215",
      "DOI": "10.1016/j.cell.2006.06.009",
      "article-title": "TUF love for \u2018junk\u2019 DNA",
      "volume": "125",
      "author": "Willingham",
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      "journal-title": "Cell"
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      "key": "key\n\t\t\t\t20171012140144_DDL181C2",
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      "first-page": "799",
      "DOI": "10.1016/0092-8674(92)90154-5",
      "article-title": "Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member",
      "volume": "68",
      "author": "Brook",
      "year": "1992",
      "journal-title": "Cell"
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    {
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      "doi-asserted-by": "crossref",
      "first-page": "864",
      "DOI": "10.1126/science.1062125",
      "article-title": "Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9",
      "volume": "293",
      "author": "Liquori",
      "year": "2001",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C4",
      "doi-asserted-by": "crossref",
      "first-page": "2674",
      "DOI": "10.1212/WNL.43.12.2674",
      "article-title": "Somatic instability of CTG repeat in myotonic dystrophy",
      "volume": "43",
      "author": "Ashizawa",
      "year": "1993",
      "journal-title": "Neurology"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C5",
      "doi-asserted-by": "crossref",
      "first-page": "104",
      "DOI": "10.1002/ana.410350116",
      "article-title": "Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes",
      "volume": "35",
      "author": "Thornton",
      "year": "1994",
      "journal-title": "Ann. Neurol."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C6",
      "doi-asserted-by": "crossref",
      "first-page": "483",
      "DOI": "10.1016/j.molcel.2005.09.002",
      "article-title": "Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF",
      "volume": "20",
      "author": "Cho",
      "year": "2005",
      "journal-title": "Mol. Cell"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C7",
      "doi-asserted-by": "crossref",
      "first-page": "402",
      "DOI": "10.1038/ng0897-402",
      "article-title": "Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of the DMAHP gene",
      "volume": "16",
      "author": "Klesert",
      "year": "1997",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C8",
      "doi-asserted-by": "crossref",
      "first-page": "407",
      "DOI": "10.1038/ng0897-407",
      "article-title": "Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene",
      "volume": "16",
      "author": "Thornton",
      "year": "1997",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C9",
      "doi-asserted-by": "crossref",
      "first-page": "995",
      "DOI": "10.1083/jcb.128.6.995",
      "article-title": "Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues",
      "volume": "128",
      "author": "Taneja",
      "year": "1995",
      "journal-title": "J. Cell Biol."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C10",
      "doi-asserted-by": "crossref",
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      "volume": "94",
      "author": "Davis",
      "year": "1997",
      "journal-title": "Proc. Natl Acad. Sci. USA"
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      "volume": "162",
      "author": "Furling",
      "year": "2003",
      "journal-title": "Am. J. Pathol."
    },
    {
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      "doi-asserted-by": "crossref",
      "first-page": "506",
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      "author": "Ranum",
      "year": "2004",
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      "author": "Seznec",
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      "doi-asserted-by": "crossref",
      "first-page": "1769",
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      "article-title": "Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat",
      "volume": "289",
      "author": "Mankodi",
      "year": "2000",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C15",
      "doi-asserted-by": "crossref",
      "first-page": "2138",
      "DOI": "10.1093/hmg/ddl137",
      "article-title": "MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1",
      "volume": "15",
      "author": "de Haro",
      "year": "2006",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C16",
      "doi-asserted-by": "crossref",
      "first-page": "1868",
      "DOI": "10.1093/brain/awh210",
      "article-title": "Homozygosity for CCTG mutation in myotonic dystrophy type 2",
      "volume": "127",
      "author": "Schoser",
      "year": "2004",
      "journal-title": "Brain"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C17",
      "doi-asserted-by": "crossref",
      "first-page": "1808",
      "DOI": "10.1093/hmg/ddl103",
      "article-title": "DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression",
      "volume": "15",
      "author": "Margolis",
      "year": "2006",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C18",
      "doi-asserted-by": "crossref",
      "first-page": "579",
      "DOI": "10.1212/01.wnl.0000198227.91131.1e",
      "article-title": "Outcome and effect of pregnancy in myotonic dystrophy type 2",
      "volume": "66",
      "author": "Rudnik-Schoneborn",
      "year": "2006",
      "journal-title": "Neurology"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C19",
      "doi-asserted-by": "crossref",
      "first-page": "737",
      "DOI": "10.1126/science.280.5364.737",
      "article-title": "Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy",
      "volume": "280",
      "author": "Philips",
      "year": "1998",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C20",
      "doi-asserted-by": "crossref",
      "first-page": "4439",
      "DOI": "10.1093/emboj/19.17.4439",
      "article-title": "Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy",
      "volume": "19",
      "author": "Miller",
      "year": "2000",
      "journal-title": "EMBO J."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C21",
      "doi-asserted-by": "crossref",
      "first-page": "259",
      "DOI": "10.1146/annurev.neuro.29.051605.113014",
      "article-title": "RNA-mediated neuromuscular disorders",
      "volume": "29",
      "author": "Ranum",
      "year": "2006",
      "journal-title": "Annu. Rev. Neurosci."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C22",
      "doi-asserted-by": "crossref",
      "first-page": "4407",
      "DOI": "10.1093/nar/24.22.4407",
      "article-title": "Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy",
      "volume": "24",
      "author": "Timchenko",
      "year": "1996",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C23",
      "doi-asserted-by": "crossref",
      "first-page": "3534",
      "DOI": "10.1093/nar/27.17.3534",
      "article-title": "Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein",
      "volume": "27",
      "author": "Michalowski",
      "year": "1999",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C24",
      "doi-asserted-by": "crossref",
      "first-page": "2766",
      "DOI": "10.1093/nar/29.13.2766",
      "article-title": "In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts",
      "volume": "29",
      "author": "Fardaei",
      "year": "2001",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C25",
      "doi-asserted-by": "crossref",
      "first-page": "3079",
      "DOI": "10.1093/hmg/ddh327",
      "article-title": "Myotonic dystrophy type 1 associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins, and deregulated alternative splicing in neurons",
      "volume": "13",
      "author": "Jiang",
      "year": "2004",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C26",
      "doi-asserted-by": "crossref",
      "first-page": "760",
      "DOI": "10.1002/ana.10763",
      "article-title": "Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2",
      "volume": "54",
      "author": "Mankodi",
      "year": "2003",
      "journal-title": "Ann. Neurol."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C27",
      "doi-asserted-by": "crossref",
      "first-page": "131",
      "DOI": "10.1006/dbio.1997.8833",
      "article-title": "The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2",
      "volume": "195",
      "author": "Artero",
      "year": "1998",
      "journal-title": "Dev.Biol."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C28",
      "doi-asserted-by": "crossref",
      "first-page": "4321",
      "DOI": "10.1242/dev.124.21.4321",
      "article-title": "muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins",
      "volume": "124",
      "author": "Begemann",
      "year": "1997",
      "journal-title": "Development"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C29",
      "doi-asserted-by": "crossref",
      "first-page": "3103",
      "DOI": "10.1038/sj.emboj.7600300",
      "article-title": "Muscleblind proteins regulate alternative splicing",
      "volume": "23",
      "author": "Ho",
      "year": "2004",
      "journal-title": "EMBO J."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C30",
      "doi-asserted-by": "crossref",
      "first-page": "805",
      "DOI": "10.1093/hmg/11.7.805",
      "article-title": "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells",
      "volume": "11",
      "author": "Fardaei",
      "year": "2002",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C31",
      "doi-asserted-by": "crossref",
      "first-page": "459",
      "DOI": "10.1016/S1567-133X(03)00064-4",
      "article-title": "Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3",
      "volume": "3",
      "author": "Kanadia",
      "year": "2003",
      "journal-title": "Gene Expr. Patterns"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C32",
      "doi-asserted-by": "crossref",
      "first-page": "419",
      "DOI": "10.1101/gad.1048803",
      "article-title": "Pre-mRNA splicing and human disease",
      "volume": "17",
      "author": "Faustino",
      "year": "2003",
      "journal-title": "Genes Dev."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C33",
      "doi-asserted-by": "crossref",
      "first-page": "2087",
      "DOI": "10.1093/hmg/ddl132",
      "article-title": "Failure of MBNL1-dependent postnatal splicing transitions in myotonic dystrophy",
      "volume": "15",
      "author": "Lin",
      "year": "2006",
      "journal-title": "Hum. Mol. Genet"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C34",
      "doi-asserted-by": "crossref",
      "first-page": "2297",
      "DOI": "10.1093/hmg/11.19.2297",
      "article-title": "Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells",
      "volume": "11",
      "author": "Buj-Bello",
      "year": "2002",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C35",
      "doi-asserted-by": "crossref",
      "first-page": "4517",
      "DOI": "10.1093/nar/27.22.4517",
      "article-title": "CUG repeat binding protein (CUGBP1) interacts with the 5\u2032 region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms",
      "volume": "27",
      "author": "Timchenko",
      "year": "1999",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C36",
      "doi-asserted-by": "crossref",
      "first-page": "6927",
      "DOI": "10.1128/MCB.21.20.6927-6938.2001",
      "article-title": "Molecular basis for impaired muscle differentiation in myotonic dystrophy",
      "volume": "21",
      "author": "Timchenko",
      "year": "2001",
      "journal-title": "Mol. Cell. Biol."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C37",
      "doi-asserted-by": "crossref",
      "first-page": "1240",
      "DOI": "10.1038/ncb1335",
      "article-title": "RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1",
      "volume": "7",
      "author": "Adereth",
      "year": "2005",
      "journal-title": "Nat. Cell Biol."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C38",
      "doi-asserted-by": "crossref",
      "first-page": "797",
      "DOI": "10.1126/science.1379744",
      "article-title": "The skeletal muscle chloride channel in dominant and recessive human myotonia",
      "volume": "257",
      "author": "Koch",
      "year": "1992",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C39",
      "doi-asserted-by": "crossref",
      "first-page": "35",
      "DOI": "10.1016/S1097-2765(02)00563-4",
      "article-title": "Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy",
      "volume": "10",
      "author": "Mankodi",
      "year": "2002",
      "journal-title": "Mol. Cell"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C40",
      "doi-asserted-by": "crossref",
      "first-page": "45",
      "DOI": "10.1016/S1097-2765(02)00572-5",
      "article-title": "Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing",
      "volume": "10",
      "author": "Charlet-B",
      "year": "2002",
      "journal-title": "Mol. Cell"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C41",
      "doi-asserted-by": "crossref",
      "first-page": "40",
      "DOI": "10.1038/ng704",
      "article-title": "Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy",
      "volume": "29",
      "author": "Savkur",
      "year": "2001",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C42",
      "doi-asserted-by": "crossref",
      "first-page": "857",
      "DOI": "10.1172/JCI109198",
      "article-title": "Decreased insulin sensitivity of forearm muscle in myotonic dystrophy",
      "volume": "62",
      "author": "Moxley",
      "year": "1978",
      "journal-title": "J. Clin. Invest."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C43",
      "doi-asserted-by": "crossref",
      "first-page": "16626",
      "DOI": "10.1073/pnas.0505873102",
      "article-title": "The structural basis of myotonic dystrophy from the crystal structure of CUG repeats",
      "volume": "102",
      "author": "Mooers",
      "year": "2005",
      "journal-title": "Proc. Natl Acad. Sci. USA"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C44",
      "doi-asserted-by": "crossref",
      "first-page": "31079",
      "DOI": "10.1074/jbc.272.49.31079",
      "article-title": "CUG repeats present in myotonin kinase RNA form metastable slippery hairpins",
      "volume": "272",
      "author": "Napierala",
      "year": "1997",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C45",
      "doi-asserted-by": "crossref",
      "first-page": "79",
      "DOI": "10.1017/S1355838200991544",
      "article-title": "Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR",
      "volume": "6",
      "author": "Tian",
      "year": "2000",
      "journal-title": "RNA"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C46",
      "doi-asserted-by": "crossref",
      "first-page": "1152",
      "DOI": "10.1161/01.RES.0000193598.89753.e3",
      "article-title": "Nuclear RNA foci in the heart in myotonic dystrophy",
      "volume": "97",
      "author": "Mankodi",
      "year": "2005",
      "journal-title": "Circ. Res."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C47",
      "doi-asserted-by": "crossref",
      "first-page": "2165",
      "DOI": "10.1093/hmg/10.19.2165",
      "article-title": "Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2",
      "volume": "10",
      "author": "Mankodi",
      "year": "2001",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C48",
      "doi-asserted-by": "crossref",
      "first-page": "1978",
      "DOI": "10.1126/science.1088583",
      "article-title": "A muscleblind knockout model for myotonic dystrophy",
      "volume": "302",
      "author": "Kanadia",
      "year": "2003",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C49",
      "doi-asserted-by": "crossref",
      "first-page": "1539",
      "DOI": "10.1093/hmg/ddi162",
      "article-title": "Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy",
      "volume": "14",
      "author": "Ho",
      "year": "2005",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C50",
      "doi-asserted-by": "crossref",
      "first-page": "5773",
      "DOI": "10.1074/jbc.M410781200",
      "article-title": "MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1",
      "volume": "280",
      "author": "Dansithong",
      "year": "2005",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C51",
      "doi-asserted-by": "crossref",
      "first-page": "127",
      "DOI": "10.1212/WNL.57.1.127",
      "article-title": "Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X",
      "volume": "57",
      "author": "Hagerman",
      "year": "2001",
      "journal-title": "Neurology"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C52",
      "doi-asserted-by": "crossref",
      "first-page": "805",
      "DOI": "10.1086/386296",
      "article-title": "The fragile-X premutation: a maturing perspective",
      "volume": "74",
      "author": "Hagerman",
      "year": "2004",
      "journal-title": "Am. J. Hum. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C53",
      "doi-asserted-by": "crossref",
      "DOI": "10.1136/jmg.2006.042374",
      "article-title": "Size bias of fragile X premutation alleles in late-onset movement disorders",
      "author": "Jacquemont",
      "year": "2006",
      "journal-title": "J. Med. Genet"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C54",
      "doi-asserted-by": "crossref",
      "first-page": "1449",
      "DOI": "10.1093/hmg/10.14.1449",
      "article-title": "Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers",
      "volume": "10",
      "author": "Kenneson",
      "year": "2001",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C55",
      "doi-asserted-by": "crossref",
      "first-page": "6",
      "DOI": "10.1086/302720",
      "article-title": "Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome",
      "volume": "66",
      "author": "Tassone",
      "year": "2000",
      "journal-title": "Am. J. Hum. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C56",
      "doi-asserted-by": "crossref",
      "first-page": "1482",
      "DOI": "10.1017/S1355838202020642",
      "article-title": "Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations",
      "volume": "8",
      "author": "Primerano",
      "year": "2002",
      "journal-title": "RNA"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C57",
      "doi-asserted-by": "crossref",
      "first-page": "731",
      "DOI": "10.1126/science.7732383",
      "article-title": "Translational suppression by trinucleotide repeat expansion at FMR1",
      "volume": "268",
      "author": "Feng",
      "year": "1995",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C58",
      "doi-asserted-by": "crossref",
      "first-page": "1760",
      "DOI": "10.1093/brain/awf184",
      "article-title": "Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers",
      "volume": "125",
      "author": "Greco",
      "year": "2002",
      "journal-title": "Brain"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C59",
      "doi-asserted-by": "crossref",
      "first-page": "243",
      "DOI": "10.1093/brain/awh683",
      "article-title": "Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)",
      "volume": "129",
      "author": "Greco",
      "year": "2006",
      "journal-title": "Brain"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C60",
      "doi-asserted-by": "crossref",
      "first-page": "869",
      "DOI": "10.1086/374321",
      "article-title": "Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates",
      "volume": "72",
      "author": "Jacquemont",
      "year": "2003",
      "journal-title": "Am. J. Hum. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C61",
      "doi-asserted-by": "crossref",
      "first-page": "739",
      "DOI": "10.1016/S0896-6273(03)00533-6",
      "article-title": "RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila",
      "volume": "39",
      "author": "Jin",
      "year": "2003",
      "journal-title": "Neuron"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C62",
      "doi-asserted-by": "crossref",
      "first-page": "949",
      "DOI": "10.1093/hmg/ddg114",
      "article-title": "The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome",
      "volume": "12",
      "author": "Willemsen",
      "year": "2003",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C63",
      "doi-asserted-by": "crossref",
      "first-page": "233",
      "DOI": "10.1016/j.bbr.2005.03.007",
      "article-title": "Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS)",
      "volume": "162",
      "author": "Van Dam",
      "year": "2005",
      "journal-title": "Behav. Brain Res."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C64",
      "doi-asserted-by": "crossref",
      "first-page": "256",
      "DOI": "10.1093/brain/awh650",
      "article-title": "Protein composition of the intranuclear inclusions of FXTAS",
      "volume": "129",
      "author": "Iwahashi",
      "year": "2006",
      "journal-title": "Brain"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C65",
      "doi-asserted-by": "crossref",
      "first-page": "103",
      "DOI": "10.4161/rna.1.2.1035",
      "article-title": "FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)",
      "volume": "1",
      "author": "Tassone",
      "year": "2004",
      "journal-title": "RNA Biol."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C66",
      "doi-asserted-by": "crossref",
      "first-page": "1975",
      "DOI": "10.1093/hmg/8.11.1975",
      "article-title": "Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model",
      "volume": "8",
      "author": "Amack",
      "year": "1999",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C67",
      "doi-asserted-by": "crossref",
      "first-page": "3661",
      "DOI": "10.1093/hmg/ddi394",
      "article-title": "Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells",
      "volume": "14",
      "author": "Arocena",
      "year": "2005",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C68",
      "doi-asserted-by": "crossref",
      "first-page": "743",
      "DOI": "10.1038/nrg1691",
      "article-title": "Diseases of unstable repeat expansion: mechanisms and common principles",
      "volume": "6",
      "author": "Gatchel",
      "year": "2005",
      "journal-title": "Nat. Rev. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C69",
      "doi-asserted-by": "crossref",
      "first-page": "5469",
      "DOI": "10.1093/nar/gkg766",
      "article-title": "RNA structure of trinucleotide repeats associated with human neurological diseases",
      "volume": "31",
      "author": "Sobczak",
      "year": "2003",
      "journal-title": "Nucleic Acids Res."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C70",
      "doi-asserted-by": "crossref",
      "first-page": "1531",
      "DOI": "10.1093/hmg/10.15.1531",
      "article-title": "Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue",
      "volume": "10",
      "author": "Peel",
      "year": "2001",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C71",
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      "volume": "118",
      "author": "Ho",
      "year": "2005",
      "journal-title": "J. Cell Sci."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C72",
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      "first-page": "19",
      "DOI": "10.1080/14734220510007905",
      "article-title": "Pathogenesis of spinocerebellar ataxias viewed from the RNA perspective",
      "volume": "4",
      "author": "Michlewski",
      "year": "2005",
      "journal-title": "Cerebellum"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C73",
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      "article-title": "Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript",
      "volume": "5",
      "author": "Goldberg",
      "year": "1996",
      "journal-title": "Hum. Mol. Genet"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C74",
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      "first-page": "1041",
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      "article-title": "The pathogenic agent in Drosophila models of \u2018polyglutamine\u2019 diseases",
      "volume": "14",
      "author": "McLeod",
      "year": "2005",
      "journal-title": "Hum. Mol. Genet."
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      "key": "key\n\t\t\t\t20171012140144_DDL181C75",
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      "first-page": "379",
      "DOI": "10.1038/7710",
      "article-title": "An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)",
      "volume": "21",
      "author": "Koob",
      "year": "1999",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C76",
      "doi-asserted-by": "crossref",
      "first-page": "758",
      "DOI": "10.1038/ng1827",
      "article-title": "Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8",
      "volume": "38",
      "author": "Moseley",
      "year": "2006",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C77",
      "first-page": "1",
      "article-title": "Huntington's disease like-2: review and update",
      "volume": "14",
      "author": "Margolis",
      "year": "2005",
      "journal-title": "Acta Neurol. Taiwan"
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C78",
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      "first-page": "377",
      "DOI": "10.1038/ng760",
      "article-title": "A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2",
      "volume": "29",
      "author": "Holmes",
      "year": "2001",
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    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C79",
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      "first-page": "729",
      "DOI": "10.1038/nrg1689",
      "article-title": "Repeat instability: mechanisms of dynamic mutations",
      "volume": "6",
      "author": "Pearson",
      "year": "2005",
      "journal-title": "Nat. Rev. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C80",
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      "first-page": "3643",
      "DOI": "10.1093/hmg/ddi392",
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      "volume": "14",
      "author": "Lin",
      "year": "2005",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20171012140144_DDL181C81",
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      "DOI": "10.1038/nature01535",
      "article-title": "An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene",
      "volume": "423",
      "author": "Hirotsune",
      "year": "2003",
      "journal-title": "Nature"
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    {
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      "article-title": "Reversal of RNA mis-splicing and myotonia following muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy",
      "author": "Kanadia",
      "year": "2006",
      "journal-title": "Proc. Natl Acad. Sci."
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      "volume": "280",
      "author": "Langlois",
      "year": "2005",
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      "volume": "10",
      "author": "Furling",
      "year": "2003",
      "journal-title": "Gene Ther."
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      "volume": "14",
      "author": "Kimura",
      "year": "2005",
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