These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 35041320)

  • 1. [Spinocerebellar ataxia 17: full phenotype in a 42 CAG/CAA-repeats carrier].
    I DV; Proskokova TN; Sikora NV; Abramycheva NY; Illarioshkin SN
    Zh Nevrol Psikhiatr Im S S Korsakova; 2021; 121(12):100-105. PubMed ID: 35041320
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.
    Origone P; Gotta F; Lamp M; Trevisan L; Geroldi A; Massucco D; Grazzini M; Massa F; Ticconi F; Bauckneht M; Marchese R; Abbruzzese G; Bellone E; Mandich P
    Cerebellum Ataxias; 2018; 5():7. PubMed ID: 29564144
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
    Oda M; Maruyama H; Komure O; Morino H; Terasawa H; Izumi Y; Imamura T; Yasuda M; Ichikawa K; Ogawa M; Matsumoto M; Kawakami H
    Arch Neurol; 2004 Feb; 61(2):209-12. PubMed ID: 14967767
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype.
    Ivanova E; Nuzhnyi E; Abramycheva N; Klyushnikov S; Fedotova E; Illarioshkin S
    Clin Neurol Neurosurg; 2022 Nov; 222():107473. PubMed ID: 36252335
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.
    Paolini Paoletti F; Prontera P; Nigro P; Simoni S; Cappelletti G; Filidei M; Calabresi P; Parnetti L; Tambasco N
    Neurol Sci; 2021 Oct; 42(10):4309-4315. PubMed ID: 34031796
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
    Mariotti C; Alpini D; Fancellu R; Soliveri P; Grisoli M; Ravaglia S; Lovati C; Fetoni V; Giaccone G; Castucci A; Taroni F; Gellera C; Di Donato S
    J Neurol; 2007 Nov; 254(11):1538-46. PubMed ID: 17934876
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
    Zühlke C; Dalski A; Schwinger E; Finckh U
    BMC Med Genet; 2005 Jul; 6():27. PubMed ID: 15989694
    [TBL] [Abstract][Full Text] [Related]  

  • 8. From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.
    Mehanna R; Itin I
    Cerebellum; 2013 Aug; 12(4):568-71. PubMed ID: 23475385
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.
    Saito R; Tada Y; Oikawa D; Sato Y; Seto M; Satoh A; Kume K; Ueki N; Nakashima M; Hayashi S; Toyoshima Y; Tokunaga F; Kawakami H; Kakita A
    Acta Neuropathol Commun; 2022 Dec; 10(1):177. PubMed ID: 36476347
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
    Rolfs A; Koeppen AH; Bauer I; Bauer P; Buhlmann S; Topka H; Schöls L; Riess O
    Ann Neurol; 2003 Sep; 54(3):367-75. PubMed ID: 12953269
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene.
    Nolte D; Sobanski E; Wissen A; Regula JU; Lichy C; Müller U
    J Neurol Neurosurg Psychiatry; 2010 Dec; 81(12):1396-9. PubMed ID: 20587494
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.
    Reetz K; Kleiman A; Klein C; Lencer R; Zuehlke C; Brockmann K; Rolfs A; Binkofski F
    PLoS One; 2011 Jan; 6(1):e15125. PubMed ID: 21311576
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia.
    Costanzi-Porrini S; Tessarolo D; Abbruzzese C; Liguori M; Ashizawa T; Giacanelli M
    Neurology; 2000 Jan; 54(2):491-3. PubMed ID: 10668721
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers.
    Kelp A; Koeppen AH; Petrasch-Parwez E; Calaminus C; Bauer C; Portal E; Yu-Taeger L; Pichler B; Bauer P; Riess O; Nguyen HP
    J Neurosci; 2013 May; 33(21):9068-81. PubMed ID: 23699518
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
    Nanetti L; Magri S; Fichera M; Castaldo A; Nigri A; Pinardi C; Mongelli A; Sarro L; Pareyson D; Grisoli M; Gellera C; Di Bella D; Mariotti C; Taroni F
    Mov Disord; 2023 Apr; 38(4):665-675. PubMed ID: 36799493
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spinocerebellar Ataxia Type 17 (SCA17).
    Toyoshima Y; Takahashi H
    Adv Exp Med Biol; 2018; 1049():219-231. PubMed ID: 29427105
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.
    Wernick AI; Walton RL; Soto-Beasley AI; Koga S; Heckman MG; Valentino RR; Milanowski LM; Hoffman-Zacharska D; Koziorowski D; Hassan A; Uitti RJ; Cheshire WP; Singer W; Wszolek ZK; Dickson DW; Low PA; Ross OA
    Clin Auton Res; 2021 Feb; 31(1):117-125. PubMed ID: 33502644
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
    Stevanin G; Brice A
    Cerebellum; 2008; 7(2):170-8. PubMed ID: 18418687
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic defects from the expression of wild-type and pathogenic TATA-binding proteins in new Drosophila models of Spinocerebellar Ataxia Type 17.
    Patel N; Alam N; Libohova K; Dulay R; Todi SV; Sujkowski A
    G3 (Bethesda); 2023 Sep; 13(10):. PubMed ID: 37551423
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.