CHDI
Listed here are over 1,100 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
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
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
Schultz JL, Ogilvie AC, Harshman LA, Nopoulos PC
β-blocker use and delayed onset and progression of Huntington disease
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
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
Feleus S, Skotnicki LEM, Roos RAC, de Bot ST
Medication use and treatment indications in Huntington's disease; analyses from a large cohort
Pustina D, Das S, Rozelle D, Johnson HJ, Scahill RI, Tabrizi SJ, Georgiou-Karistianis N, Sampaio C, Wood A
Bridging Huntington's disease research with big data science: Harmonized neuroimaging datasets from multiple studies
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
Sampaio C
FDA boosts the progressive supranuclear palsy rating scale!
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
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
11 (11) :240824
PMID: 39569347
PMCID: 11576117
DOI: 10.1098/rsos.240824
Landles C, Osborne GF, Phillips J, Canibano-Pico M, Nita IM, Ali N, Bobkov K, Greene JR, Sathasivam K, Bates GP
Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays
Williams GK, Akkermans J, Lawson M, Syta P, Staelens S, Adhikari MH, Morton AJ, Nitzsche B, Boltze J, Christou C, Bertoglio D, Ahamed M
Imaging glucose metabolism and dopaminergic dysfunction in sheep (Ovis aries) brain using positron emission tomography imaging reveals abnormalities in OVT73 Huntington's disease sheep
ACS Chem Neurosci
November 6, 2024
15 (21) :4082-4091
15 (21) :4082-4091
PMID: 39420554
Mathews EW, Coffey SR, Gärtner A, Belgrad J, Bragg RM, O’Reilly D, Cantle JP, McHugh C, Summers A, Fentz J, Schwagarus T, Cornelius A, Lingos I, Burch Z, Kovalenko M, Andrew MA, Bennett FC, Kordasiewicz HB, Marchionini DM, Wilkinson H, Vogt TF, Pinto RM, Khvorova A, Howland D, Wheeler VC, Carroll JB
Suppression of Huntington's disease somatic instability by transcriptional repression and direct CAG repeat binding
Yao J, Feng B S G, Shao M S G, Mendizabal A, Telesca D, Fang K, Ibragimova L, Shoaib J, Morrison MA, Lupo JM
Interplay between sex and disease burden in Huntington's disease: Clinical and neuroimaging perspectives
Neema M, Schultz JL, Langbehn DR, Conrad AL, Epping EA, Magnotta VA, Nopoulos PC
Mutant huntingtin drives development of an advantageous brain early in life: Evidence in support of antagonistic pleiotropy
van Wamelen DJ, Martin NH, Makos O, Badenoch J, Valera-Bermejo JM, Hartmann M, Cristales AR, Wood TC, Veronese M, Moretto M, Zelaya F, dell’Acqua F, O’Daly O, Lythgoe DJ, Ginestet C, Turkheimer F, Palasits N, Mrzljak L, Warner JH, Rabiner EA, Gunn R, Tabrizi SJ, Sampaio C, Wood A, Williams SC
Study protocol for the iMarkHD study in individuals with Huntington's disease
Gray SM, Dai J, Smith AC, Beckley JT, Rahmati N, Lewis MC, Quirk MC
Changes in 24(S)-hydroxycholesterol are associated with cognitive performance in early Huntington's disease: Data from the TRACK and ENROLL HD cohorts
Park CS, Yan M, Zhu M, Akram MA, Foster NN, Bennecke A, Choi C, Marrett K, Moradi K, Zhang JY, Magat G, Nanda S, Vaca R, Wijaya K, Zablan JR, Lee S, Song C, Lara MJ, Louie M, Cong J, Kim Y, Ascoli GA, Langfelder P, Tward D, Dong HW, Yang XW
Dendritome mapping unveils spatial organization of striatal D1/D2-neuron morphology
Vasilkovska T, Verschuuren M, Pustina D, van den Berg M, Van Audekerke J, Pintelon I, Cachope R, De Vos WH, Van der Linden A, Adhikari MH, Verhoye M
Evolution of aberrant brain-wide spatiotemporal dynamics of resting-state networks in a Huntington's disease mouse model
Kim MJ, Gibson DJ, Hu D, Yoshida T, Hueske E, Matsushima A, Mahar A, Schofield CJ, Sompolpong P, Tran KT, Tian L, Graybiel AM
Dopamine release plateau and outcome signals in dorsal striatum contrast with classic reinforcement learning formulations
Di Cecca A, Ilardi CR, Della Pia F, Criscuolo C, Della Sala S, Salvatore E
Distortion errors characterise visuo-constructive performance in Huntington's disease
Mills JA, Long JD, Vaidya JG, Gantman EC, Sathe S, Tabrizi SJ, Sampaio C
Time to functional loss as an endpoint in Huntington's disease trials: Enrichment and sample size
Guzauskas GF, Tabrizi SJ, Long JD, Arnesen A, Hamilton JL, Claassen DO, Munetsi LR, Malik S, Rodríguez-Santana I, Ali TM, Zhang F
Long-term health outcomes of Huntington disease and the impact of future disease-modifying treatments: A decision-modeling analysis
Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, …Wolf NI
Framework for multistakeholder patient registries in the field of rare diseases: Focus on neurogenetic diseases
Snow ALB, Ciriegio AE, Watson KH, Baumann MG, Pfalzer AC, Diehl S, Duncan K, McDonell KE, Claassen DO, Compas BE
Coping with Huntington's disease in patients and at-risk individuals
Ghofrani-Jahromi M, Poudel GR, Razi A, Abeyasinghe PM, Paulsen JS, Tabrizi SJ, Saha S, Georgiou-Karistianis N
Prognostic enrichment for early-stage Huntington's disease: An explainable machine learning approach for clinical trial
Galimberti M, Nucera MR, Bocchi VD, Conforti P, Vezzoli E, Cereda M, Maffezzini C, Iennaco R, Scolz A, Falqui A, Cordiglieri C, Cremona M, Espuny-Camacho I, Faedo A, Felsenfeld DP, Vogt TF, Ranzani V, Zuccato C, Besusso D, Cattaneo E
Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids
Allen S, O’Reilly D, Miller R, Sapp E, Summers A, Paquette J, Echeverria Moreno D, Bramato B, McHugh N, Yamada K, Aronin N, DiFiglia M, Khvorova A
mRNA nuclear clustering leads to a difference in mutant huntingtin mRNA and protein silencing by siRNAs in vivo