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Page 1
Increased frequency of repeat expansion mutations across different populations.
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A, Gies SJ, Galassi Deforie V, Dalmia A, Hensman Moss DJ, Vandrovcova J, Rocca C, Moutsianas L, Marini-Bettolo C, Walker H, Turner C, Shoai M, Long JD, Fratta P, Langbehn DR, Tabrizi SJ, Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: tabrizi sj. Nat Med. 2024 Nov;30(11):3357-3368. doi: 10.1038/s41591-024-03190-5. Epub 2024 Oct 1. Nat Med. 2024. PMID: 39354197 Free PMC article.
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S. Beck J, et al. Among authors: tabrizi sj. Am J Hum Genet. 2013 Mar 7;92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434116 Free PMC article.
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ. Hensman Moss DJ, et al. Among authors: tabrizi sj. Neurology. 2014 Jan 28;82(4):292-9. doi: 10.1212/WNL.0000000000000061. Epub 2013 Dec 20. Neurology. 2014. PMID: 24363131 Free PMC article.
Huntington disease: natural history, biomarkers and prospects for therapeutics.
Ross CA, Aylward EH, Wild EJ, Langbehn DR, Long JD, Warner JH, Scahill RI, Leavitt BR, Stout JC, Paulsen JS, Reilmann R, Unschuld PG, Wexler A, Margolis RL, Tabrizi SJ. Ross CA, et al. Among authors: tabrizi sj. Nat Rev Neurol. 2014 Apr;10(4):204-16. doi: 10.1038/nrneurol.2014.24. Epub 2014 Mar 11. Nat Rev Neurol. 2014. PMID: 24614516 Free article. Review.
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease.
Bečanović K, Nørremølle A, Neal SJ, Kay C, Collins JA, Arenillas D, Lilja T, Gaudenzi G, Manoharan S, Doty CN, Beck J, Lahiri N, Portales-Casamar E, Warby SC, Connolly C, De Souza RA; REGISTRY Investigators of the European Huntington's Disease Network; Tabrizi SJ, Hermanson O, Langbehn DR, Hayden MR, Wasserman WW, Leavitt BR. Bečanović K, et al. Among authors: tabrizi sj. Nat Neurosci. 2015 Jun;18(6):807-16. doi: 10.1038/nn.4014. Epub 2015 May 4. Nat Neurosci. 2015. PMID: 25938884
Neuropsychiatry and White Matter Microstructure in Huntington's Disease.
Gregory S, Scahill RI, Seunarine KK, Stopford C, Zhang H, Zhang J, Orth M, Durr A, Roos RA, Langbehn DR, Long JD, Johnson H, Rees G, Tabrizi SJ, Craufurd D; Track-HD Investigators. Gregory S, et al. Among authors: tabrizi sj. J Huntingtons Dis. 2015;4(3):239-49. doi: 10.3233/JHD-150160. J Huntingtons Dis. 2015. PMID: 26443926 Free PMC article.
The impact of occipital lobe cortical thickness on cognitive task performance: An investigation in Huntington's Disease.
Johnson EB, Rees EM, Labuschagne I, Durr A, Leavitt BR, Roos RA, Reilmann R, Johnson H, Hobbs NZ, Langbehn DR, Stout JC, Tabrizi SJ, Scahill RI; TRACK-HD investigators. Johnson EB, et al. Among authors: tabrizi sj. Neuropsychologia. 2015 Dec;79(Pt A):138-46. doi: 10.1016/j.neuropsychologia.2015.10.033. Epub 2015 Oct 28. Neuropsychologia. 2015. PMID: 26519555
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Bettencourt C, Hensman-Moss D, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P; SPATAX Network; Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L. Bettencourt C, et al. Among authors: tabrizi sj. Ann Neurol. 2016 Jun;79(6):983-90. doi: 10.1002/ana.24656. Epub 2016 May 6. Ann Neurol. 2016. PMID: 27044000 Free PMC article.
Validation of a prognostic index for Huntington's disease.
Long JD, Langbehn DR, Tabrizi SJ, Landwehrmeyer BG, Paulsen JS, Warner J, Sampaio C. Long JD, et al. Among authors: tabrizi sj. Mov Disord. 2017 Feb;32(2):256-263. doi: 10.1002/mds.26838. Epub 2016 Nov 28. Mov Disord. 2017. PMID: 27892614 Free PMC article.
357 results