CHDI
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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Title
Journal
Barry A, Nopoulos PC
Cortical and striatal functional connectivity in juvenile-onset Huntington's disease
Delva A, Koole M, Serdons K, Bormans G, Skinbjerg M, Khetarpal V, Liu L, Bard J, Doot R, Warner JH, Sathe S, Sampaio C, Wood A, Van Laere K, Vandenberghe W
PET imaging with [¹¹C]CHDI-00485180-R, designed as radioligand for aggregated mutant huntingtin, in people with Huntington's disease
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
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
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
Tan HCG, McAdam RL, Morton A, Cousin MA, Smillie KJ
Increased activity-dependent bulk endocytosis in Huntington's disease results from huntingtin haploinsufficiency
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease highlight shared and tissue-specific effects
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
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
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
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
Stavrides P, Goulbourne CN, Peddy J, Huo C, Rao M, Khetarpal V, Marchionini DM, Nixon RA, Yang DS
mTOR inhibition in Q175 Huntington's disease model mice facilitates neuronal autophagy and mutant huntingtin clearance
Aretz J, Jeyasankar G, Salerno-Kochan A, Thomsen M, Thieulin-Pardo G, Haque T, Monteagudo E, Felsenfeld D, Finley M, Vogt TF, Boudet J, Prasad BC
A FAN1 point mutation associated with accelerated Huntington's disease progression alters its PCNA-mediated assembly on DNA
Everix L, Zajicek F, Eetveldt AV, Liu L, Bard J, Staelens S, Bertoglio D
Assessment of changes in synaptic density in the zQ175DN mouse model of Huntington's disease: a [18F]SynVesT-1 study
Geva M, Goldberg YP, Schuring H, Tan AM, Long JD, Hayden MR
Antidopaminergic medications and clinical changes in measures of Huntington's disease: A causal analysis
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
Justice JL, Greco TM, Hutton JE, Reed TJ, Mair ML, Botas J, Cristea IM
Multi-epitope immunocapture of huntingtin reveals striatum-selective molecular signatures
Halabi N, Killoran A, Nopoulos PC, Schultz JL
Differentiating hyperkinetic and hypokinetic motor features in the progression of Huntington's disease
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
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
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
Koriath CAM, Guntoro F, Norsworthy P, Dolzhenko E, Eberle M, Hensman Moss DJ, Flower M, Hummerich H, Rosser AE, Tabrizi SJ, Mead S, Wild EJ
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration
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
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
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
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
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
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
12 (3) :346-352
PMID: 39644245
PMCID: 11952948
DOI: 10.1002/mdc3.14287
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
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
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
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
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
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
Xu H, Ajayan A, Langen R, Chen J
Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington's disease
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
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
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
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
53 (1) :gkae1155
PMID: 39676657
PMCID: 11724279
DOI: 10.1093/nar/gkae1155
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
53 (1) :gkae1204
PMID: 39673793
PMCID: 11724284
DOI: 10.1093/nar/gkae1204