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Times Cited: 464
Times Cited: 464
Times Cited
Times Co-cited
Similarity
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
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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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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
H T Orr, M Y Chung, S Banfi, T J Kwiatkowski, A Servadio, A L Beaudet, A E McCall, L A Duvick, L P Ranum, H Y Zoghbi. Nat Genet 1993
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A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
R Koide, S Kobayashi, T Shimohata, T Ikeuchi, M Maruyama, M Saito, M Yamada, H Takahashi, S Tsuji. Hum Mol Genet 1999
R Koide, S Kobayashi, T Shimohata, T Ikeuchi, M Maruyama, M Saito, M Yamada, H Takahashi, S Tsuji. Hum Mol Genet 1999
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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
S M Pulst, A Nechiporuk, T Nechiporuk, S Gispert, X N Chen, I Lopes-Cendes, S Pearlman, S Starkman, G Orozco-Diaz, A Lunkes,[...]. Nat Genet 1996
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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
Arndt Rolfs, Arnulf H Koeppen, Ingrid Bauer, Peter Bauer, Sven Buhlmann, Helge Topka, Ludger Schöls, Olaf Riess. Ann Neurol 2003
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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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Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration.
Meyer J Friedman, Anjali G Shah, Zhi-Hui Fang, Elizabeth G Ward, Stephen T Warren, Shihua Li, Xiao-Jiang Li. Nat Neurosci 2007
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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
R Koide, T Ikeuchi, O Onodera, H Tanaka, S Igarashi, K Endo, H Takahashi, R Kondo, A Ishikawa, T Hayashi. Nat Genet 1994
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A R La Spada, E M Wilson, D B Lubahn, A E Harding, K H Fischbeck. Nature 1991
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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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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
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SCA17 homozygote showing Huntington's disease-like phenotype.
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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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Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
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Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
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Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
Giovanni Stevanin, Alexis Brice. Cerebellum 2008
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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
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Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.
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Intergenerational instability and marked anticipation in SCA-17.
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CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.
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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.
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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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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
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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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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.
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Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.
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Amalia C Bruni, Junko Takahashi-Fujigasaki, Francesca Maltecca, Jean Francois Foncin, Antonio Servadio, Giorgio Casari, Pio D'Adamo, Raffaele Maletta, Sabrina A M Curcio, Giuseppe De Michele,[...]. Arch Neurol 2004
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Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain.
M DiFiglia, E Sapp, K O Chase, S W Davies, G P Bates, J P Vonsattel, N Aronin. Science 1997
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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
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Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity.
Meyer J Friedman, Chuan-En Wang, Xiao-Jiang Li, Shihua Li. J Biol Chem 2008
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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 KCND3 cause spinocerebellar ataxia type 22.
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Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.
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Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.
Janghoo Lim, Juan Crespo-Barreto, Paymaan Jafar-Nejad, Aaron B Bowman, Ronald Richman, David E Hill, Harry T Orr, Huda Y Zoghbi. Nature 2008
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Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
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Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
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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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A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers.
Alexandra Kelp, Arnulf H Koeppen, Elisabeth Petrasch-Parwez, Carsten Calaminus, Claudia Bauer, Esteban Portal, Libo Yu-Taeger, Bernd Pichler, Peter Bauer, Olaf Riess,[...]. J Neurosci 2013
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Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.
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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.
Xi Chen, Tie-Shan Tang, Huiping Tu, Omar Nelson, Mark Pook, Robert Hammer, Nobuyuki Nukina, Ilya Bezprozvanny. J Neurosci 2008
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Spectrin mutations cause spinocerebellar ataxia type 5.
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Non-ATG-initiated translation directed by microsatellite expansions.
Tao Zu, Brian Gibbens, Noelle S Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D Stone, Jamie Margolis, Mark Peterson, Todd W Markowski, Melissa A C Ingram,[...]. Proc Natl Acad Sci U S A 2011
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ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.
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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.