BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

255 related articles for article (PubMed ID: 37776516)

  • 1. Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.
    Shorrock HK; Lennon CD; Aliyeva A; Davey EE; DeMeo CC; Pritchard CE; Planco L; Velez JM; Mascorro-Huamancaja A; Shin DS; Cleary JD; Berglund JA
    Brain; 2024 Feb; 147(2):486-504. PubMed ID: 37776516
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pathogenic mechanisms underlying spinocerebellar ataxia type 1.
    Tejwani L; Lim J
    Cell Mol Life Sci; 2020 Oct; 77(20):4015-4029. PubMed ID: 32306062
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias.
    Buijsen RAM; Toonen LJA; Gardiner SL; van Roon-Mom WMC
    Neurotherapeutics; 2019 Apr; 16(2):263-286. PubMed ID: 30607747
    [TBL] [Abstract][Full Text] [Related]  

  • 4. AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model.
    Niewiadomska-Cimicka A; Fievet L; Surdyka M; Jesion E; Keime C; Singer E; Eisenmann A; Kalinowska-Poska Z; Nguyen HHP; Fiszer A; Figiel M; Trottier Y
    Int J Mol Sci; 2024 Apr; 25(8):. PubMed ID: 38673939
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal-dominant cerebellar ataxias.
    Mundwiler A; Shakkottai VG
    Handb Clin Neurol; 2018; 147():173-185. PubMed ID: 29325610
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The molecular mechanisms of spinocerebellar ataxias for DNA repeat expansion in disease.
    Kumar M; Tyagi N; Faruq M
    Emerg Top Life Sci; 2023 Dec; 7(3):289-312. PubMed ID: 37668011
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dysregulation of alternative splicing in spinocerebellar ataxia type 1.
    Olmos V; Thompson EN; Gogia N; Luttik K; Veeranki V; Ni L; Sim S; Chen K; Krause DS; Lim J
    Hum Mol Genet; 2024 Jan; 33(2):138-149. PubMed ID: 37802886
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical Characteristics and Possible Drug Targets in Autosomal Dominant Spinocerebellar Ataxias.
    Szpisjak L; Zadori D; Klivenyi P; Vecsei L
    CNS Neurol Disord Drug Targets; 2019; 18(4):279-293. PubMed ID: 30864514
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The clinical diagnosis of autosomal dominant spinocerebellar ataxias.
    Klockgether T
    Cerebellum; 2008; 7(2):101-5. PubMed ID: 18418679
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
    Kacher R; Lejeune FX; David I; Boluda S; Coarelli G; Leclere-Turbant S; Heinzmann A; Marelli C; Charles P; Goizet C; Kabir N; Hilab R; Jornea L; Six J; Dommergues M; Fauret AL; Brice A; Humbert S; Durr A
    Am J Hum Genet; 2024 May; 111(5):913-926. PubMed ID: 38626762
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion.
    Niewiadomska-Cimicka A; Hache A; Trottier Y
    Front Neurosci; 2020; 14():571. PubMed ID: 32581696
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
    Brusco A; Gellera C; Cagnoli C; Saluto A; Castucci A; Michielotto C; Fetoni V; Mariotti C; Migone N; Di Donato S; Taroni F
    Arch Neurol; 2004 May; 61(5):727-33. PubMed ID: 15148151
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.
    Friedrich J; Kordasiewicz HB; O'Callaghan B; Handler HP; Wagener C; Duvick L; Swayze EE; Rainwater O; Hofstra B; Benneyworth M; Nichols-Meade T; Yang P; Chen Z; Ortiz JP; Clark HB; Öz G; Larson S; Zoghbi HY; Henzler C; Orr HT
    JCI Insight; 2018 Nov; 3(21):. PubMed ID: 30385727
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.
    Ikeda Y; Daughters RS; Ranum LP
    Cerebellum; 2008; 7(2):150-8. PubMed ID: 18418692
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
    Tang B; Liu C; Shen L; Dai H; Pan Q; Jing L; Ouyang S; Xia J
    Arch Neurol; 2000 Apr; 57(4):540-4. PubMed ID: 10768629
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development.
    Chen ML; Lin CC; Rosenthal LS; Opal P; Kuo SH
    J Neurol Sci; 2021 May; 424():117417. PubMed ID: 33836316
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mini-review: spinocerebellar ataxias: an update of SCA genes.
    Trott A; Houenou LJ
    Recent Pat DNA Gene Seq; 2012 Aug; 6(2):115-21. PubMed ID: 22670601
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
    Paulson HL; Shakkottai VG; Clark HB; Orr HT
    Nat Rev Neurosci; 2017 Oct; 18(10):613-626. PubMed ID: 28855740
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cell biology of spinocerebellar ataxia.
    Orr HT
    J Cell Biol; 2012 Apr; 197(2):167-77. PubMed ID: 22508507
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.
    Chen JW; Zhao L; Zhang F; Li L; Gu YH; Zhou JY; Zhang H; Meng M; Zhang KH; Le WD; Dong CB
    Chin Med J (Engl); 2015 Jul; 128(13):1714-23. PubMed ID: 26112709
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.