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Times Cited: 453
Times Cited
Times Co-cited
Similarity
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
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A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
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CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.
H Fujigasaki, J J Martin, P P De Deyn, A Camuzat, D Deffond, G Stevanin, B Dermaut, C Van Broeckhoven, A Dürr, A Brice. Brain 2001
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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
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Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.
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SCA17 homozygote showing Huntington's disease-like phenotype.
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22
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
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Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.
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Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
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Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.
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Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor.
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Intergenerational instability and marked anticipation in SCA-17.
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Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity.
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Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene.
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Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
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Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.
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Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.
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19
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
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12
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
Xiaofei Du, Jun Wang, Haipeng Zhu, Lorenzo Rinaldo, Kay-Marie Lamar, Ann C Palmenberg, Christian Hansel, Christopher M Gomez. Cell 2013
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.
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Mutations in KCND3 cause spinocerebellar ataxia type 22.
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11
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.
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Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
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11
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.
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Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.
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Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death.
Montserrat Arrasate, Siddhartha Mitra, Erik S Schweitzer, Mark R Segal, Steven Finkbeiner. Nature 2004
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Neuroprotective effects of granulocyte-colony stimulating factor in a novel transgenic mouse model of SCA17.
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
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Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3.
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Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.
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10
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.