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FAN1 modifies Huntington's disease progression by stabilising the expanded HTT CAG repeat.

Goold R, Flower M, Moss DH, Medway C, Wood-Kaczmar A, Andre R, Farshim P, Bates GP, Holmans P, Jones L, Tabrizi SJ.

Hum Mol Genet. 2018 Oct 24. doi: 10.1093/hmg/ddy375. [Epub ahead of print]


Learning Subject-Specific Directed Acyclic Graphs With Mixed Effects Structural Equation Models From Observational Data.

Li X, Xie S, McColgan P, Tabrizi SJ, Scahill RI, Zeng D, Wang Y.

Front Genet. 2018 Oct 2;9:430. doi: 10.3389/fgene.2018.00430. eCollection 2018.


Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Koriath C, Kenny J, Adamson G, Druyeh R, Taylor W, Beck J, Quinn L, Mok TH, Dimitriadis A, Norsworthy P, Bass N, Carter J, Walker Z, Kipps C, Coulthard E, Polke JM, Bernal-Quiros M, Denning N, Thomas R, Raybould R, Williams J, Mummery CJ, Wild EJ, Houlden H, Tabrizi SJ, Rossor MN, Hummerich H, Warren JD, Rowe JB, Rohrer JD, Schott JM, Fox NC, Collinge J, Mead S.

Mol Psychiatry. 2018 Oct 2. doi: 10.1038/s41380-018-0224-0. [Epub ahead of print]


Executive impairment is associated with unawareness of neuropsychiatric symptoms in premanifest and early Huntington's disease.

Andrews SC, Craufurd D, Durr A, Leavitt BR, Roos RA, Tabrizi SJ, Stout JC.

Neuropsychology. 2018 Nov;32(8):958-965. doi: 10.1037/neu0000479. Epub 2018 Sep 13.


In vivo characterization of white matter pathology in premanifest huntington's disease.

Zhang J, Gregory S, Scahill RI, Durr A, Thomas DL, Lehericy S, Rees G, Tabrizi SJ, Zhang H; TrackOn-HD investigators.

Ann Neurol. 2018 Oct;84(4):497-504. doi: 10.1002/ana.25309. Epub 2018 Sep 15.


In vivo neutralization of the protagonist role of macrophages during the chronic inflammatory stage of Huntington's disease.

Pido-Lopez J, Andre R, Benjamin AC, Ali N, Farag S, Tabrizi SJ, Bates GP.

Sci Rep. 2018 Jul 30;8(1):11447. doi: 10.1038/s41598-018-29792-x.


Response to the letter to the editor by Reilmann et al referring to our article titled "Motor cortex synchronization influences the rhythm of motor performance in premanifest Huntington's disease".

Casula EP, Mayer IMS, Desikan M, Tabrizi SJ, Rothwell JC, Orth M.

Mov Disord. 2018 Aug;33(8):1371. doi: 10.1002/mds.27471. Epub 2018 Jul 30. No abstract available.


Apathy and atrophy of subcortical brain structures in Huntington's disease: A two-year follow-up study.

Baake V, Coppen EM, van Duijn E, Dumas EM, van den Bogaard SJA, Scahill RI, Johnson H, Leavitt B, Durr A, Tabrizi SJ, Craufurd D, Roos RAC; Track-HD investigators.

Neuroimage Clin. 2018 Mar 27;19:66-70. doi: 10.1016/j.nicl.2018.03.033. eCollection 2018.


Working Memory-Related Effective Connectivity in Huntington's Disease Patients.

Lahr J, Minkova L, Tabrizi SJ, Stout JC, Klöppel S, Scheller E; TrackOn-HD Investigators.

Front Neurol. 2018 Jun 4;9:370. doi: 10.3389/fneur.2018.00370. eCollection 2018.


Testing a longitudinal compensation model in premanifest Huntington's disease.

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 .

Brain. 2018 Jul 1;141(7):2156-2166. doi: 10.1093/brain/awy122.


An image-based model of brain volume biomarker changes in Huntington's disease.

Wijeratne PA, Young AL, Oxtoby NP, Marinescu RV, Firth NC, Johnson EB, Mohan A, Sampaio C, Scahill RI, Tabrizi SJ, Alexander DC.

Ann Clin Transl Neurol. 2018 Apr 2;5(5):570-582. doi: 10.1002/acn3.558. eCollection 2018 May.


Overlap between age-at-onset and disease-progression determinants in Huntington disease.

Aziz NA, van der Burg JMM, Tabrizi SJ, Landwehrmeyer GB.

Neurology. 2018 Jun 12;90(24):e2099-e2106. doi: 10.1212/WNL.0000000000005690. Epub 2018 May 9.


Natural biological variation of white matter microstructure is accentuated in Huntington's disease.

Gregory S, Crawford H, Seunarine K, Leavitt B, Durr A, Roos RAC, Scahill RI, Tabrizi SJ, Rees G, Langbehn D, Orth M.

Hum Brain Mapp. 2018 Apr 22. doi: 10.1002/hbm.24191. [Epub ahead of print]


Cross-sectional and longitudinal voxel-based grey matter asymmetries in Huntington's disease.

Minkova L, Gregory S, Scahill RI, Abdulkadir A, Kaller CP, Peter J, Long JD, Stout JC, Reilmann R, Roos RA, Durr A, Leavitt BR, Tabrizi SJ, Klöppel S; TRACK-HD Investigators.

Neuroimage Clin. 2017 Oct 25;17:312-324. doi: 10.1016/j.nicl.2017.10.023. eCollection 2018.


Clinical Features of Huntington's Disease.

Ghosh R, Tabrizi SJ.

Adv Exp Med Biol. 2018;1049:1-28. doi: 10.1007/978-3-319-71779-1_1. Review.


Predicting clinical diagnosis in Huntington's disease: An imaging polymarker.

Mason SL, Daws RE, Soreq E, Johnson EB, Scahill RI, Tabrizi SJ, Barker RA, Hampshire A.

Ann Neurol. 2018 Mar;83(3):532-543. doi: 10.1002/ana.25171. Epub 2018 Mar 13.


Test-Retest Reliability of Measures Commonly Used to Measure Striatal Dysfunction across Multiple Testing Sessions: A Longitudinal Study.

Palmer CE, Langbehn D, Tabrizi SJ, Papoutsi M.

Front Psychol. 2018 Jan 12;8:2363. doi: 10.3389/fpsyg.2017.02363. eCollection 2017.


Neurofilament light protein in blood predicts regional atrophy in Huntington disease.

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.

Neurology. 2018 Feb 20;90(8):e717-e723. doi: 10.1212/WNL.0000000000005005. Epub 2018 Jan 24.


Motor cortex synchronization influences the rhythm of motor performance in premanifest huntington's disease.

Casula EP, Mayer IMS, Desikan M, Tabrizi SJ, Rothwell JC, Orth M.

Mov Disord. 2018 Mar;33(3):440-448. doi: 10.1002/mds.27285. Epub 2018 Jan 22.


Huntington disease.

Ghosh R, Tabrizi SJ.

Handb Clin Neurol. 2018;147:255-278. doi: 10.1016/B978-0-444-63233-3.00017-8. Review.


Quantification of huntingtin protein species in Huntington's disease patient leukocytes using optimised electrochemiluminescence immunoassays.

Hensman Moss DJ, Robertson N, Farmer R, Scahill RI, Haider S, Tessari MA, Flynn G, Fischer DF, Wild EJ, Macdonald D, Tabrizi SJ.

PLoS One. 2017 Dec 22;12(12):e0189891. doi: 10.1371/journal.pone.0189891. eCollection 2017.


Stimulating neural plasticity with real-time fMRI neurofeedback in Huntington's disease: A proof of concept study.

Papoutsi M, Weiskopf N, Langbehn D, Reilmann R, Rees G, Tabrizi SJ.

Hum Brain Mapp. 2018 Mar;39(3):1339-1353. doi: 10.1002/hbm.23921. Epub 2017 Dec 13.


Brain Regions Showing White Matter Loss in Huntington's Disease Are Enriched for Synaptic and Metabolic Genes.

McColgan P, Gregory S, Seunarine KK, Razi A, Papoutsi M, Johnson E, Durr A, Roos RAC, Leavitt BR, Holmans P, Scahill RI, Clark CA, Rees G, Tabrizi SJ; Track-On HD Investigators.

Biol Psychiatry. 2018 Mar 1;83(5):456-465. doi: 10.1016/j.biopsych.2017.10.019. Epub 2017 Oct 26.


Motor, cognitive, and functional declines contribute to a single progressive factor in early HD.

Schobel SA, Palermo G, Auinger P, Long JD, Ma S, Khwaja OS, Trundell D, Cudkowicz M, Hersch S, Sampaio C, Dorsey ER, Leavitt BR, Kieburtz KD, Sevigny JJ, Langbehn DR, Tabrizi SJ; TRACK-HD, COHORT, CARE-HD, and 2CARE Huntington Study Group Investigators.

Neurology. 2017 Dec 12;89(24):2495-2502. doi: 10.1212/WNL.0000000000004743. Epub 2017 Nov 15.


Myostatin inhibition prevents skeletal muscle pathophysiology in Huntington's disease mice.

Bondulich MK, Jolinon N, Osborne GF, Smith EJ, Rattray I, Neueder A, Sathasivam K, Ahmed M, Ali N, Benjamin AC, Chang X, Dick JRT, Ellis M, Franklin SA, Goodwin D, Inuabasi L, Lazell H, Lehar A, Richard-Londt A, Rosinski J, Smith DL, Wood T, Tabrizi SJ, Brandner S, Greensmith L, Howland D, Munoz-Sanjuan I, Lee SJ, Bates GP.

Sci Rep. 2017 Oct 27;7(1):14275. doi: 10.1038/s41598-017-14290-3.


Recommendations for the Use of Automated Gray Matter Segmentation Tools: Evidence from Huntington's Disease.

Johnson EB, Gregory S, Johnson HJ, Durr A, Leavitt BR, Roos RA, Rees G, Tabrizi SJ, Scahill RI.

Front Neurol. 2017 Oct 10;8:519. doi: 10.3389/fneur.2017.00519. eCollection 2017.


Gene suppression approaches to neurodegeneration.

Ghosh R, Tabrizi SJ.

Alzheimers Res Ther. 2017 Oct 5;9(1):82. doi: 10.1186/s13195-017-0307-1. Review.


Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis.

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.

JAMA Neurol. 2017 Nov 1;74(11):1352-1360. doi: 10.1001/jamaneurol.2017.2107.


Structural imaging in premanifest and manifest Huntington disease.

Scahill RI, Andre R, Tabrizi SJ, Aylward EH.

Handb Clin Neurol. 2017;144:247-261. doi: 10.1016/B978-0-12-801893-4.00020-1. Review.


Therapies targeting DNA and RNA in Huntington's disease.

Wild EJ, Tabrizi SJ.

Lancet Neurol. 2017 Oct;16(10):837-847. doi: 10.1016/S1474-4422(17)30280-6. Epub 2017 Sep 12. Review. Erratum in: Lancet Neurol. 2017 Dec;16(12 ):954.


Design optimization for clinical trials in early-stage manifest Huntington's disease.

Frost C, Mulick A, Scahill RI, Owen G, Aylward E, Leavitt BR, Durr A, Roos RAC, Borowsky B, Stout JC, Reilmann R, Langbehn DR, Tabrizi SJ, Sampaio C; TRACK-HD Investigators.

Mov Disord. 2017 Nov;32(11):1610-1619. doi: 10.1002/mds.27122. Epub 2017 Sep 14.


Huntington's disease: a clinical review.

McColgan P, Tabrizi SJ.

Eur J Neurol. 2018 Jan;25(1):24-34. doi: 10.1111/ene.13413. Epub 2017 Sep 22. Review.


The reliability of commonly used electrophysiology measures.

Brown KE, Lohse KR, Mayer IMS, Strigaro G, Desikan M, Casula EP, Meunier S, Popa T, Lamy JC, Odish O, Leavitt BR, Durr A, Roos RAC, Tabrizi SJ, Rothwell JC, Boyd LA, Orth M.

Brain Stimul. 2017 Nov - Dec;10(6):1102-1111. doi: 10.1016/j.brs.2017.07.011. Epub 2017 Jul 31.


Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ.

Lancet Neurol. 2017 Sep;16(9):701-711. doi: 10.1016/S1474-4422(17)30161-8. Epub 2017 Jun 20. Erratum in: Lancet Neurol. 2017 Sep;16(9):683.


Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis.

Byrne LM, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RAC, Scahill RI, Tabrizi SJ, Zetterberg H, Langbehn D, Wild EJ.

Lancet Neurol. 2017 Aug;16(8):601-609. doi: 10.1016/S1474-4422(17)30124-2. Epub 2017 Jun 7. Erratum in: Lancet Neurol. 2017 Sep;16(9):683.


Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.

Stuitje G, van Belzen MJ, Gardiner SL, van Roon-Mom WMC, Boogaard MW; REGISTRY Investigators of the European Huntington Disease Network, Tabrizi SJ, Roos RAC, Aziz NA.

Brain. 2017 Jul 1;140(7):e42. doi: 10.1093/brain/awx122. No abstract available.


Measuring compensation in neurodegeneration using MRI.

Gregory S, Long JD, Tabrizi SJ, Rees G.

Curr Opin Neurol. 2017 Aug;30(4):380-387. doi: 10.1097/WCO.0000000000000469. Review.


KEAP1-modifying small molecule reveals muted NRF2 signaling responses in neural stem cells from Huntington's disease patients.

Quinti L, Dayalan Naidu S, Träger U, Chen X, Kegel-Gleason K, Llères D, Connolly C, Chopra V, Low C, Moniot S, Sapp E, Tousley AR, Vodicka P, Van Kanegan MJ, Kaltenbach LS, Crawford LA, Fuszard M, Higgins M, Miller JRC, Farmer RE, Potluri V, Samajdar S, Meisel L, Zhang N, Snyder A, Stein R, Hersch SM, Ellerby LM, Weerapana E, Schwarzschild MA, Steegborn C, Leavitt BR, Degterev A, Tabrizi SJ, Lo DC, DiFiglia M, Thompson LM, Dinkova-Kostova AT, Kazantsev AG.

Proc Natl Acad Sci U S A. 2017 Jun 6;114(23):E4676-E4685. doi: 10.1073/pnas.1614943114. Epub 2017 May 22.


Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.

Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C.

Mov Disord. 2017 May;32(5):724-725. doi: 10.1002/mds.27045. No abstract available.


The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patients.

Neueder A, Landles C, Ghosh R, Howland D, Myers RH, Faull RLM, Tabrizi SJ, Bates GP.

Sci Rep. 2017 May 2;7(1):1307. doi: 10.1038/s41598-017-01510-z.


Allele-Selective Suppression of Mutant Huntingtin in Primary Human Blood Cells.

Miller JRC, Pfister EL, Liu W, Andre R, Träger U, Kennington LA, Lo K, Dijkstra S, Macdonald D, Ostroff G, Aronin N, Tabrizi SJ.

Sci Rep. 2017 Apr 24;7:46740. doi: 10.1038/srep46740.


Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington's disease.

McColgan P, Seunarine KK, Gregory S, Razi A, Papoutsi M, Long JD, Mills JA, Johnson E, Durr A, Roos RAC, Leavitt BR, Stout JC, Scahill RI, Clark CA, Rees G, Tabrizi SJ, Investigators TTH.

JCI Insight. 2017 Apr 20;2(8). pii: 92641. doi: 10.1172/jci.insight.92641. [Epub ahead of print]


Operationalizing compensation over time in neurodegenerative disease.

Gregory S, Long JD, Klöppel S, Razi A, Scheller E, Minkova L, Papoutsi M, Mills JA, Durr A, Leavitt BR, Roos RAC, Stout JC, Scahill RI, Langbehn DR, Tabrizi SJ, Rees G.

Brain. 2017 Apr 1;140(4):1158-1165. doi: 10.1093/brain/awx022. No abstract available.


Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease.

Hensman Moss DJ, Flower MD, Lo KK, Miller JR, van Ommen GB, 't Hoen PA, Stone TC, Guinee A, Langbehn DR, Jones L, Plagnol V, van Roon-Mom WM, Holmans P, Tabrizi SJ.

Sci Rep. 2017 Mar 21;7:44849. doi: 10.1038/srep44849.


Structural and functional brain network correlates of depressive symptoms in premanifest Huntington's disease.

McColgan P, Razi A, Gregory S, Seunarine KK, Durr A, A C Roos R, Leavitt BR, Scahill RI, Clark CA, Langbehn DR, Rees G, Tabrizi SJ; Track On-HD Investigators.

Hum Brain Mapp. 2017 Jun;38(6):2819-2829. doi: 10.1002/hbm.23527. Epub 2017 Mar 15.


White matter predicts functional connectivity in premanifest Huntington's disease.

McColgan P, Gregory S, Razi A, Seunarine KK, Gargouri F, Durr A, Roos RA, Leavitt BR, Scahill RI, Clark CA, Tabrizi SJ, Rees G; Track On‐HD Investigators, Coleman A, Decolongon J, Fan M, Petkau T, Jauffret C, Justo D, Lehericy S, Nigaud K, Valabrègue R, Choonderbeek A, Hart EP, Hensman Moss DJ, Crawford H, Johnson E, Papoutsi M, Berna C, Reilmann R, Weber N, Stout J, Labuschagne I, Landwehrmeyer B, Orth M, Johnson H.

Ann Clin Transl Neurol. 2017 Jan 16;4(2):106-118. doi: 10.1002/acn3.384. eCollection 2017 Feb.


DNA repair in the trinucleotide repeat disorders.

Jones L, Houlden H, Tabrizi SJ.

Lancet Neurol. 2017 Jan;16(1):88-96. doi: 10.1016/S1474-4422(16)30350-7. Review.


Corrigendum to "Increased central microglial activation associated with peripheral cytokine levels in premanifest Huntington's disease gene carriers" [Neurobiol. Dis. 83 (2015) 115-121].

Politis M, Lahiri N, Niccolini F, Su P, Wu K, Giannetti P, Scahill RI, Turkheimer FE, Tabrizi SJ, Piccini P.

Neurobiol Dis. 2017 Feb;98:162. doi: 10.1016/j.nbd.2016.12.003. Epub 2016 Dec 8. No abstract available.


Validation of a prognostic index for Huntington's disease.

Long JD, Langbehn DR, Tabrizi SJ, Landwehrmeyer BG, Paulsen JS, Warner J, Sampaio C.

Mov Disord. 2017 Feb;32(2):256-263. doi: 10.1002/mds.26838. Epub 2016 Nov 28.


Cerebrospinal Fluid Inflammatory Biomarkers Reflect Clinical Severity in Huntington's Disease.

Rodrigues FB, Byrne LM, McColgan P, Robertson N, Tabrizi SJ, Zetterberg H, Wild EJ.

PLoS One. 2016 Sep 22;11(9):e0163479. doi: 10.1371/journal.pone.0163479. eCollection 2016.

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