UCL Queen Square Institute of Neurology


Selected publications

Selected HD Centre Publications

  • Langbehn D, Stout J, Gregory S, Mills J, Durr A, Leavitt B, Roos R, Long J, Owen G, Johnson H, Borowsky B, Craufurd D, Reilmann R, Landwehrmeyer B, Scahill R, Tabrizi SJ. The effect of polyglutamine CAG repeats on long term progression in Huntington's disease. JAMA Neurology. August 12, 2019. doi:10.1001/jamaneurol.2019.2368
  • Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, Blair NF, Craufurd D, Priller J, Rickards H, Rosser A, Kordasiewicz HB, Czech C, Swayze EE, Norris DA,  Baumann TF, Gerlach I, Schobel SA, Paz E, Smith AV, Bennett CF, Lane RM. Targeting Huntingtin Expression in Patients with Huntington’s Disease. New England Journal of Medicine. 2019 May doi: 10.1056/NEJMoa1900907; included in the NEJM’s Notable Articles of 2019
  • Flower M, Lomeikaite V, Ciosi M, Cumming S, Morales F, Lo K, Moss D H, Jones L, Holmans P, the TRACK-HD Investigators, the OPTIMISTIC Consortium, Monckton DG, Tabrizi SJ. MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1. Brain. 2019 Jun 19. pii: awz115. doi: 10.1093/brain/awz115
  • Goold R, Flower M, Moss DH, Medway C, Wood-Kaczmar A, et al. and Tabrizi SJ. FAN1 modifies Huntington's disease progression by stabilising the expanded HTT CAG repeat. Human Molecular Genetics. 2019 Feb 15;28(4):650-661. [Downloaded 322 times in first 2 months of publication. First description of FAN1 stabilising the CAG repeat in HD.]
  • Byrne LM, Rodrigues FB, Johnson EB, Wijeratne PA, De Vita E, Alexander DC, Palermo G, Czech C, Schobel S, Scahill RI, Heslegrave A, Zetterberg H, Wild EJ; Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington's disease. Sci Transl Med. 2018 Sep 12;10(458). pii: eaat7108. doi: 10.1126/scitranslmed.aat7108.
  • Gregory S, Long JD, Klöppel S, Razi A, Scheller E, Minkova L, Johnson EB, Durr A, Roos RAC, Leavitt BR, Mills JA, Stout JC, Scahill RI, Tabrizi SJ*, Rees G. Track-On investigators. Testing a longitudinal compensation model in premanifest Huntington's disease. Brain. 2018 Jul 1;141(7):2156-2166. doi: 10.1093/brain/awy122 * Equal senior author
  • McColgan P, Gregory S, Seunarine KK, Razi A, Papoutsi M, Johnson E, Durr A, et al. and Rees G, Tabrizi SJ; Brain Regions Showing White Matter Loss in Huntington's Disease Are Enriched for Synaptic and Metabolic Genes. Biological Psychiatry. 2018 Mar 1;83(5):456-465. 
  • Johnson EB, Byrne LM, Gregory S, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RA, Zetterberg H, Tabrizi SJ, Scahill RI, Wild EJ; TRACK-HD Study Group; Neurofilament light protein in blood predicts regional atrophy in Huntington disease. Neurology. 2018 Feb 20;90(8):e717-e723. doi: 10.1212/WNL.0000000000005005. Epub 2018 Jan 24.
  • Long JD, Mills JA, Leavitt BR, Durr A, Roos RA, Stout JC, Reilmann R, Landwehrmeyer B, Gregory S, Scahill RI, Langbehn DR, Tabrizi SJ; Track-HD and Track-On Investigators. Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis. JAMA Neurology. 2017 Nov 1;74(11):1352-1360. doi: 10.1001/jamaneurol.2017.2107.
  • Byrne LM, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RAC, Scahill RI, Tabrizi SJ, Zetterberg H, Langbehn D, Wild EJ; Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis. Lancet Neurol. 2017 Aug;16(8):601-609. doi: 10.1016/S1474-4422(17)30124-2. Epub 2017 Jun 7.
  • Hensman Moss DJ, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, et al. Tabrizi SJ. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. The Lancet Neurology. 2017 Sep;16(9):701-711. Epub 2017 Jun 20. [Awarded the “Insight of the Year” award by the HSG 2017]
  • Wild EJ, Boggio R, Langbehn D, Robertson N, Haider S, Miller JR, Zetterberg H, Leavitt BR, Kuhn R, Tabrizi SJ, Macdonald D, Weiss A; Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. J Clin Invest. 2015 May;125(5):1979-86. doi: 10.1172/JCI80743. 

Please see our Publications page for a complete list of publications