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438 related items for PubMed ID: 18651325

  • 1. Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.
    Sułek-Piatkowska A, Krysa W, Zdzienicka E, Szirkowiec W, Hoffman-Zacharska D, Rajkiewicz M, Fidziańska E, Kowalska G, Zaremba J.
    Neurol Neurochir Pol; 2008; 42(3):203-9. PubMed ID: 18651325
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  • 4. 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
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  • 6. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
    Costa MDC, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P.
    J Hum Genet; 2006 May; 51(8):645-651. PubMed ID: 16858508
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  • 7. Huntington disease and Huntington disease-like in a case series from Brazil.
    Castilhos RM, Souza AF, Furtado GV, Gheno TC, Silva AL, Vargas FR, Lima MA, Barsottini O, Pedroso JL, Godeiro C, Salarini D, Pereira ET, Lin K, Toralles MB, Saute JA, Rieder CR, Quintas M, Sequeiros J, Alonso I, Saraiva-Pereira ML, Jardim LB.
    Clin Genet; 2014 Oct; 86(4):373-7. PubMed ID: 24102565
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  • 8. Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation.
    Bech S, Petersen T, Nørremølle A, Gjedde A, Ehlers L, Eiberg H, Hjermind LE, Hasholt L, Lundorf E, Nielsen JE.
    Parkinsonism Relat Disord; 2010 Jan; 16(1):12-5. PubMed ID: 19595623
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  • 9. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.
    Rajkiewicz M, Sułek-Piatkowska A, Krysa W, Zdzienicka E, Szirkowiec W, Zaremba J.
    Neurol Neurochir Pol; 2008 Jan; 42(6):497-504. PubMed ID: 19235102
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  • 10. [Advance in research on spinocerebellar ataxia 17].
    Zhang J, Gu W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):44-7. PubMed ID: 24510561
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  • 11. [Importance of the number of trinucleotide repeat expansions in the clinical manifestations of Huntington's chorea].
    Vojvodić N, Culjković B, Romac S, Stojković O, Sternić N, Sokić D, Kostić VS.
    Srp Arh Celok Lek; 1998 Feb; 126(3-4):77-82. PubMed ID: 9863360
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  • 12. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
    Silveira I, Miranda C, Guimarães L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januário C, Barbot C, Tuna A, Barros J, Koide R, Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P, Sequeiros J.
    Arch Neurol; 2002 Apr; 59(4):623-9. PubMed ID: 11939898
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  • 13. Spinocerebellar Ataxia Type 17 (SCA17).
    Toyoshima Y, Takahashi H.
    Adv Exp Med Biol; 2018 Apr; 1049():219-231. PubMed ID: 29427105
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  • 14. Pathological repeat variation at the SCA17/TBP gene in south Indian patients.
    Lone WG, Khan IA, Shaik NA, Meena AK, Rao KP, Hasan Q.
    J Neurol Sci; 2015 Dec 15; 359(1-2):389-91. PubMed ID: 26476771
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  • 15. The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.
    Sułek-Piatkowska A, Zdzienicka E, Raczyńska-Rakowicz M, Krysa W, Rajkiewicz M, Szirkowiec W, Zaremba J.
    Neurol Neurochir Pol; 2010 Dec 15; 44(3):238-45. PubMed ID: 20625959
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  • 16. [Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis].
    Sánchez A, Milà M, Castellví-Bel S, Calopa M, Genís D, Jiménez D, Estivill X.
    Med Clin (Barc); 1997 May 10; 108(18):687-90. PubMed ID: 9324583
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  • 17. Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
    Mariani LL, Tesson C, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noël S, Peuvion JN, Bachoud-Levi AC, Brice A, Stevanin G, Durr A.
    JAMA Neurol; 2016 Sep 01; 73(9):1105-14. PubMed ID: 27400454
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  • 18. The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17.
    Hoffman-Zacharska D, Sulek A.
    Int J Mol Sci; 2024 Jul 26; 25(15):. PubMed ID: 39125760
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  • 19. Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.
    Mangiarini L, Sathasivam K, Mahal A, Mott R, Seller M, Bates GP.
    Nat Genet; 1997 Feb 26; 15(2):197-200. PubMed ID: 9020849
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  • 20. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
    Stevanin G, Brice A.
    Cerebellum; 2008 Feb 26; 7(2):170-8. PubMed ID: 18418687
    [Abstract] [Full Text] [Related]

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