Scientific Publications

Listed here are over 1,075 publications that describe some of the research funded (in whole or in part) by CHDI Foundation. You can also view just the subset of publications that have CHDI staff as authors.

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Boareto M, Yamamoto Y, Long JD, Sampaio C, McColgan P, Diack C, Ducray PS
Modeling disease progression and placebo response in Huntington disease: Insights from Enroll-HD and GENERATION HD1 cohorts
Neurology
May 2, 2025
104 (10) :e213646
PMID: 40315394
Bakels HS, van der Zwaan KF, Van Zwet E, Reijntjes R, Sprenger GP, Knecht TA, Roos RAC, de Bot ST
Comparison of the clinical spectrum of juvenile- and adult-onset Huntington disease: A national cohort and Enroll-HD observational study
Neurology
April 22, 2025
PMID: 40262071
Halabi N, Killoran A, Nopoulos PC, Schultz JL
Differentiating hyperkinetic and hypokinetic motor features in the progression of Huntington's disease
MedRxiv [Preprint]
April 21, 2025
PMID: 40313299
PMCID: 12045443
Stocksdale JT, Leventhal MJ, Lam S, Xu YX, Wang YO, Wang KQ, Tomas R, Faghihmonzavi Z, Raghav Y, Smith C, Wu J, Miramontes R, Sarda K, Johnson H, Shin MG, Huang T, Foster M, Barch M, Armani N, Paiz C, Easter L, Duderstadt E, Vaibhav V, Sundararaman N, Felsenfeld DP, Vogt TF, Van Eyk J, Finkbeiner S, Kaye JA, Fraenkel E, Thompson LM
Intersecting impact of CAG repeat and huntingtin knockout in stem cell-derived cortical neurons
Neurobiol Dis
April 19, 2025
PMID: 40258535
Jain G, Trombetta-Lima M, Matlahov I, Ribas HT, Chen T, Parlato R, Portale G, Dolga AM, van der Wel PCA
Inhibitor-based modulation of huntingtin aggregation mechanisms mitigates fibril-induced cellular stress
Nat Commun
April 15, 2025
16 (1) :3588
PMID: 40234398
PMCID: 12000517
Jain G, Trombetta-Lima M, Matlahov I, Ribas HT, Chen T, Parlato R, Portale G, Dolga AM, van der Wel PCA
Inhibitor-based modulation of huntingtin aggregation mechanisms mitigates fibril-induced cellular stress
Nat Commun
April 15, 2025
16 (1) :3588
PMID: 40234398
PMCID: 12000517
Fuller RL, Feigenbaum P, LaPelle N, Sathe S, Dalal P, Vaidya JG, Sinha N, Roché M, Fitzer-Attas CJ, Sampaio C, Stebbins GT
Functional Rating Scale 2.0 (FuRST 2.0): A patient-reported outcome measure of function for Huntington's disease
J Huntingtons Dis
April 15, 2025
PMID: 40232155
Pearl JR, Shetty AC, Cantle JP, Bergey DE, Bragg RM, Coffey SR, Kordasiewicz HB, Hood LE, Price ND, Ament SA, Carroll JB
Altered huntingtin-chromatin interactions predict transcriptional and epigenetic changes in Huntington's disease mouse models
Dis Model Mech
April 10, 2025
PMID: 40205980
Marchionini DM, De Lombaerde S, van Rijswijk J, Zajicek F, Everix L, Miranda A, Aaltonen MJ, Kluger CM, Wild T, Kakoulidou A, Gundelach J, Fieblinger T, Fentz J, Rosinski J, Obenauer J, Greene JR, Liu L, Munoz-Sanjuan I, Verhoye M, Verhaeghe J, Bard J, Staelens S, Bertoglio D
Pharmacodynamic biomarkers responsive to mutant huntingtin lowering in a Huntington's disease mouse model
Neurobiol Dis
April 7, 2025
PMID: 40204170
Ling S, Zhang X, Dai Y, Jiang Z, Zhou X, Lu S, Qian X, Liu J, Selfjord N, Satir TM, Lundin A, Touza JL, Firth M, Van Zuydam N, Bilican B, Akcakaya P, Hong J, Cai Y
Customizable virus-like particles deliver CRISPR-Cas9 ribonucleoprotein for effective ocular neovascular and Huntington's disease gene therapy
Nat Nanotechnol
April 1, 2025
20 (4) :543-553
PMID: 39930103
PMCID: 12015117
Abeyasinghe PM, Cole JH, Razi A, Poudel GR, Paulsen JS, Tabrizi SJ, Long JD, Georgiou-Karistianis N
Brain age as a new measure of disease stratification in Huntington's disease
Mov Disord
April 1, 2025
40 (4) :627-641
PMID: 39876588
PMCID: 12006897
Justice JL, Greco TM, Hutton JE, Reed TJ, Mair ML, Botas J, Cristea IM
Multi-epitope immunocapture of huntingtin reveals striatum-selective molecular signatures
Mol Syst Biol
April 1, 2025
PMID: 40169779
Rodríguez Santana I, Frank SA, Mestre TA, Arnesen A, Hamilton JL, Hubberstey H, Winkelmann M, Hernandez-Jimenez E, Frimpter J, Dolmetsch R, Ali TM
Suicidal ideation and sleep disturbances among people with Huntington disease: Evidence from the HDBOI study
Neurol Clin Pract
March 31, 2025
15 (3) :e200461
PMID: 40176945
PMCID: 11962051
Wang N, Zhang S, Langfelder P, Ramanathan L, Gao F, Plascencia M, Vaca R, Gu X, Deng L, Dionisio LE, Vu H, Maciejewski E, Ernst J, Prasad BC, Vogt TF, Horvath S, Aaronson JS, Rosinski J, Yang XW
Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD mice
Cell
March 20, 2025
188 (6) :1524-1544
PMID: 39938516
Mätlik K, Pressl C, Heintz N
Cell type-specific studies of human tissue for investigation of the molecular cell biology of late-onset neurodegenerative disease
Annu Rev Neurosci
March 18, 2025
PMID: 40101229
Wu Q, Yao M, Liu H, Kakazu A, Ouyang Y, Liu C, Li R, Yang F, Wang A, Surasinghe S, Gerochi D, Baldo B, Jahn S, Tang H, Lu H, Wei Z, Duan W
Progressively reduced cerebral oxygen metabolism and elevated plasma NfL levels in the zQ175DN mouse model of Huntington's disease
BioRxiv [Preprint]
March 16, 2025
PMID: 40161725
PMCID: 11952543
Olson L, Dickens S, Schultz JL, Neema M, Nopoulos PC
No evidence of early developmental delay in juvenile-onset Huntington's disease patients
Mov Disord Clin Pract
March 1, 2025
12 (3) :346-352
PMID: 39644245
PMCID: 11952948
Scahill RI, Farag M, Murphy MJ, Hobbs NZ, Leocadi M, Langley C, Knights H, Ciosi M, Fayer K, Nakajima M, Thackeray O, Gobom J, Rönnholm J, Weiner S, Hassan YR, Ponraj NKP, Estevez-Fraga C, Parker CS, Malone IB, Hyare H, Long JD, Heslegrave A, Sampaio C, Zhang H, Robbins TW, Zetterberg H, Wild EJ, Rees G, Rowe JB, Sahakian BJ, Monckton DG, Langbehn DR, Tabrizi SJ
Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis
Nat Med
March 1, 2025
31 (3) :807-818
PMID: 39825149
PMCID: 11922752
Stocksdale JT, Leventhal MJ, Lam S, Xu YX, Wang YO, Wang KQ, Tomas R, Faghihmonzavi Z, Raghav Y, Smith C, Wu J, Miramontes R, Sarda K, Johnson H, Shin MG, Huang T, Foster M, Barch M, Armani N, Paiz C, Easter L, Duderstadt E, Vaibhav V, Sundararaman N, Felsenfeld DP, Vogt TF, Van Eyk J, Finkbeiner S, Kaye JA, Fraenkel E, Thompson LM
Intersecting impact of CAG repeat and Huntingtin knockout in stem cell-derived cortical neurons
BioRxiv [Preprint]
February 24, 2025
PMID: 40060574
PMCID: 11888261
Gil-Salcedo A, Lunven M, Jacquemot C, Massart R, Bachoud-Levi AC
Specific contribution of cognitive and motor impairments with functional capacity and dependence in Huntington's disease
J Neurol
February 22, 2025
272 (3) :224
PMID: 39985726
PMCID: 11846732
Yablonska S, Strohlein CE, Baranov SV, Yeh SM, Patel A, Singh T, Jauhari A, Kim J, Khattar NK, Li F, Wang X, Chang YF, Lee CYD, Yang XW, Carlisle DL, Friedlander RM
Regulation of mutant huntingtin mitochondrial toxicity by phosphomimetic mutations within its n-terminal region
J Neurosci
February 19, 2025
45 (8) :e1254242024
PMID: 39779371
PMCID: 11841767
Bunting EL, Donaldson J, Cumming SA, Olive J, Broom E, Miclăuș M, Hamilton J, Tegtmeyer M, Zhao HT, Brenton J, Lee WS, Handsaker RE, Li S, Ford B, Ryten M, McCarroll SA, Kordasiewicz HB, Monckton DG, Balmus G, Flower M, Tabrizi SJ
Antisense oligonucleotide-mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC-derived striatal neurons
Sci Transl Med
February 12, 2025
17 (785) :eadn4600
PMID: 39937881
Handsaker RE, Kashin S, Reed NM, Tan S, Lee WS, McDonald TM, Morris K, Kamitaki N, Mullally CD, Morakabati NR, Goldman M, Lind G, Kohli R, Lawton E, Hogan M, Ichihara K, Berretta S, McCarroll SA
Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease
Cell
February 6, 2025
188 (3) :623-639
PMID: 39824182
Xu H, Ajayan A, Langen R, Chen J
Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington's disease
Neurobiol Dis
February 3, 2025
205 :106780
PMID: 39736404
Khetarpal V, Herbst T, Dominguez C, Munoz-Sanjuan I, Sampaio C, Marks B, Miller D, Farnham J, Ledvina A, Anglehart H, Rehmani I, LaFayette A, Spridco N, Langbehn D, Wild EJ, Pacifici R
Lack of evidence for kynurenine pathway dysfunction in Huntington’s disease: Cerebrospinal fluid and plasma analyses from the HDClarity study
J Huntingtons Dis
February 1, 2025
14 (1) :85-92
PMID: 39906760
PMCID: 39906760
Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Kesavan M, Shibata S, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC
In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease
Nat Genet
February 1, 2025
57 (2) :314-322
PMID: 39843658
PMCID: 11821541
van der Zwaan KF, Feleus S, Dekkers OM, Roos RAC, de Bot ST
Total functioning capacity scale in Huntington's disease: natural course over time
J Neurol
January 15, 2025
272 (2) :140
PMID: 39812810
Stimming EF, Claassen DO, Sen GP, Klepitskaya O, Serbin M, Kim H, Hinton SC, Haubenberger D
Longitudinal treatment patterns of chorea in North American patients with Huntington's disease: Data from Enroll-HD
Neurol Ther
January 15, 2025
PMID: 39815077
Maestri S, Scalzo D, Damaggio G, Zobel M, Besusso D, Cattaneo E
Navigating triplet repeats sequencing: concepts, methodological challenges and perspective for Huntington's disease
Nucleic Acids Res
January 7, 2025
53 (1) :gkae1155
PMID: 39676657
PMCID: 11724279
Cattaneo E, Scalzo D, Zobel M, Iennaco R, Maffezzini C, Besusso D, Maestri S
When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington's disease
Nucleic Acids Res
January 7, 2025
53 (1) :gkae1204
PMID: 39673793
PMCID: 11724284
Feleus S, Vo MTD, Kuijper LCM, Roos RAC, de Bot ST
Cognitive impairment predicts medication discrepancies in Huntington's disease: patient self-report compared to pharmacy records
J Neurol
January 2, 2025
272 (1) :55
PMID: 39665851
Schultz JL, Ogilvie AC, Harshman LA, Nopoulos PC
β-blocker use and delayed onset and progression of Huntington disease
JAMA Neurol
January 1, 2025
82 (1) :85-92
PMID: 39621338
PMCID: 11612910
Bagherpoor Helabad M, Matlahov I, Kumar R, Daldrop JO, Jain G, Weingarth M, van der Wel PCA, Miettinen MS
Integrative determination of atomic structure of mutant huntingtin exon 1 fibrils implicated in Huntington disease
Nat Commun
December 30, 2024
15 (1) :10793
PMID: 39737997
PMCID: 11686214
Akkermans J, Miranda A, Verhaeghe J, Elvas F, Zajicek F, Bard J, Liu L, Khetarpal V, Doot R, Staelens S, Bertoglio D
Biodistribution and dosimetry of the PET radioligand [18F]CHDI-650 in mice for detection of mutant huntingtin aggregates
EJNMMI Res
December 27, 2024
14 (1) :126
PMID: 39729164
PMCID: 11680546
Feleus S, Skotnicki LEM, Roos RAC, de Bot ST
Medication use and treatment indications in Huntington's disease; analyses from a large cohort
Mov Disord Clin Pract
December 19, 2024
11 (12) :1530-1541
PMID: 39431460
Everix L, Elvas F, Miranda Menchaca A, Khetarpal V, Liu L, Bard J, Staelens S, Bertoglio D
Preclinical validation and kinetic modelling of the SV2A PET ligand [18F]UCB-J in mice
J Cereb Blood Flow Metab
December 4, 2024
PMID: 39628318
PMCID: 11615906
Zajicek F, Verhaeghe J, De Lombaerde S, Van Eetveldt A, Miranda A, Munoz-Sanjuan I, Dominguez C, Khetarpal V, Bard J, Liu L, Staelens S, Bertoglio D
Preclinical evaluation of the novel [18F]CHDI-650 PET ligand for non-invasive quantification of mutant huntingtin aggregates in Huntington's disease
Eur J Nucl Med Mol Imaging
December 1, 2024
52 (1) :122-133
PMID: 39190197
PMCID: 11599348
Sampaio C
FDA boosts the progressive supranuclear palsy rating scale!
Mov Disord
December 1, 2024
39 (12) :2127-2129
PMID: 39699249
Sogorb-Gonzalez M, Landles C, Caron NS, Stam A, Osborne G, Hayden MR, Howland D, van Deventer S, Bates GP, Vallès A, Evers M
Exon 1-targeting miRNA reduces the pathogenic exon 1 HTT protein in Huntington disease models
Brain
December 1, 2024
147 (12) :4043–55
PMID: 39155061
PMCID: 11629698
Pollard A, Greetham D, Myatt J, Rickards H, Stanley C, Dungate D
Data-driven Huntington's disease progression modelling and estimation of societal cost in the UK
R Soc Open Sci
November 20, 2024
11 (11) :240824
PMID: 39569347
PMCID: 11576117