Scientific Publications

Listed here are over 1000 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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Callaghan J, Stopford C, Arran N, Boisse MF, Coleman A, Santos RD, Dumas EM, Hart EP, Justo D, Owen G, Read J, Say MJ, Durr A, Leavitt BR, Roos RA, Tabrizi SJ, Bachoud-Levi AC, Bourdet C, van Duijn E, Craufurd D
Reliability and factor structure of the Short Problem Behaviors Assessment for Huntington`s disease (PBA-s) in the TRACK-HD and REGISTRY studies
J Neuropsychiatry Clin Neurosci
January 1, 2015
27 (1) :59-64
PMID: 25716488
Gabery S, Georgiou-Karistianis N, Lundh SH, Cheong RY, Churchyard A, Chua P, Stout JC, Egan GF, Kirik D, Petersen A
Volumetric analysis of the hypothalamus in Huntington Disease using 3T MRI: the IMAGE-HD Study
PLoS One
January 1, 2015
10 (2) :e0117593
PMID: 25659157
PMCID: 4319930
Cummings J, Mintzer J, Brodaty H, Sano M, Banerjee S, Devanand DP, Gauthier S, Howard R, Lanctot K, Lyketsos CG, Peskind E, Porsteinsson AP, Reich E, Sampaio C, Steffens D, Wortmann M, Zhong K, International Psychogeriatric Association
Agitation in cognitive disorders: International Psychogeriatric Association provisional consensus clinical and research definition
Int Psychogeriatr
January 1, 2015
27 (1) :44029
PMID: 25311499
PMCID: PMC4301197
Odish OF, van den Berg-Huysmans AA, van den Bogaard SJ, Dumas EM, Hart EP, Rombouts SA, van der Grond J, Roos RA, Track-Hd Investigator Group
Longitudinal resting state fMRI analysis in healthy controls and premanifest Huntington`s disease gene carriers: a three-year follow-up study
Hum Brain Mapp
January 1, 2015
36 (1) :110-9
PMID: 25139578
Mrzljak L, Munoz-Sanjuan I
Therapeutic strategies for Huntington`s Disease
Curr Top Behav Neurosci
January 1, 2015
22 :161-201
PMID: 24277342
Poudel GR, Stout JC, Dominguez DJ, Gray MA, Salmon L, Churchyard A, Chua P, Borowsky B, Egan GF, Georgiou-Karistianis N
Functional changes during working memory in Huntington`s disease: 30-month longitudinal data from the IMAGE-HD study
Brain Struct Funct
January 1, 2015
220 (1) :501-12
PMID: 24240602
Lu XH, Mattis VB, Wang N, Al-Ramahi I, van den Berg N, Fratantoni SA, Waldvogel H, Greiner E, Osmand A, Elzein K, Xiao J, Dijkstra S, de Pril R, Vinters HV, Faull R, Signer E, Kwak S, Marugan JJ, Botas J, Fischer DF, Svendsen CN, Munoz-Sanjuan I, Yang XW
Targeting ATM ameliorates mutant Huntingtin toxicity in cell and animal models of Huntington's disease
Sci Transl Med
December 24, 2014
6 (268) :268ra178
PMID: 25540325
Fodale V, Kegulian NC, Verani M, Cariulo C, Azzollini L, Petricca L, Daldin M, Boggio R, Padova A, Kuhn R, Pacifici R, Macdonald D, Schoenfeld RC, Park H, Isas JM, Langen R, Weiss A, Caricasole A
Polyglutamine- and temperature-dependent conformational rigidity in mutant huntingtin revealed by immunoassays and circular dichroism spectroscopy
PLoS One
December 2, 2014
9 (12) :e112262
PMID: 25464275
PMCID: PMC4251833
Paulsen JS, Long JD, Ross CA, Harrington DL, Erwin CJ, Williams JK, Westervelt HJ, Johnson HJ, Aylward EH, Zhang Y, Bockholt HJ, Barker RA, Predict-Hd Investigators, Coordinators of the Huntington Study Group
Prediction of manifest Huntington`s disease with clinical and imaging measures: a prospective observational study
Lancet Neurol
December 1, 2014
13 (12) :1193-201
PMID: 25453459
PMCID: 4373455
Ochaba J, Lukacsovich T, Csikos G, Zheng S, Margulis J, Salazar L, Mao K, Lau AL, Yeung SY, Humbert S, Saudou F, Klionsky DJ, Finkbeiner S, Zeitlin SO, Marsh JL, Housman DE, Thompson LM, Steffan JS
Potential function for the Huntingtin protein as a scaffold for selective autophagy
Proc Natl Acad Sci USA
November 24, 2014
111 (47) :16889-94
PMID: 25385587
PMCID: PMC4250109
Rees EM, Farmer R, Cole JH, Haider S, Durr A, Landwehrmeyer B, Scahill RI, Tabrizi SJ, Hobbs NZ
Cerebellar abnormalities in Huntington's disease: a role in motor and psychiatric impairment?
Mov Disord
November 3, 2014
29 (13) :1648-54
PMID: 25123926
van Wamelen DJ, Aziz NA, Roos RA, Swaab DF
Hypothalamic alterations in Huntington's disease patients: comparison with genetic rodent models
J Neuroendocrinol
November 2, 2014
26 (11) :761-75
PMID: 25074766
Rees EM, Farmer R, Cole JH, Henley SM, Sprengelmeyer R, Frost C, Scahill RI, Hobbs NZ, Tabrizi SJ
Inconsistent emotion recognition deficits across stimulus modalities in Huntington׳s disease
Neuropsychologia
November 1, 2014
64 :99-104
PMID: 25250707
Yao J, Ong SE, Bajjalieh S
Huntingtin is associated with cytomatrix proteins at the presynaptic terminal
Mol Cell Neurosci
November 1, 2014
63 :96-100
PMID: 25461618
Deng YP, Wong T, Wan JY, Reiner A
Differential loss of thalamostriatal and corticostriatal input to striatal projection neuron types prior to overt motor symptoms in the Q140 knock-in mouse model of Huntington's disease
Front Syst Neurosci
October 15, 2014
8 :198
PMID: 25360089
PMCID: PMC4197654
Kalliolia E, Silajdžić E, Nambron R, Hill NR, Doshi A, Frost C, Watt H, Hindmarsh P, Björkqvist M, Warner TT
Plasma melatonin is reduced in Huntington's disease
Mov Disord
October 1, 2014
29 (12) :1511-5
PMID: 25164424
Brito V, Giralt A, Enriquez-Barreto L, Puigdellívol M, Suelves N, Zamora-Moratalla A, Ballesteros JJ, Martín ED, Dominguez-Iturza N, Morales M, Alberch J, Ginés S
Neurotrophin receptor p75(NTR) mediates Huntington's disease-associated synaptic and memory dysfunction
J Clin Invest
October 1, 2014
124 (10) :4411-28
PMID: 25180603
PMCID: 4191006
Wild EJ, Tabrizi SJ
Targets for future clinical trials in Huntington's disease: what's in the pipeline?
Mov Disord
September 15, 2014
29 (11) :1434-45
PMID: 25155142
PMCID: 4265300
Sampaio C, Borowsky B, Reilmann R
Clinical trials in Huntington`s disease: Interventions in early clinical development and newer methodological approaches
Mov Disord
September 15, 2014
29 (11) :1419-28
PMID: 25216371
Howland DS, Munoz-Sanjuan I
Mind the gap: models in multiple species needed for therapeutic development in Huntington`s disease
Mov Disord
September 15, 2014
29 (11) :1397-403
PMID: 25155258
Stout JC, Queller S, Baker KN, Cowlishaw S, Sampaio C, Fitzer-Attas C, Borowsky B, HD-Cab Investigators
HD-CAB: a cognitive assessment battery for clinical trials in Huntington`s disease 1,2,3
Mov Disord
September 1, 2014
29 (10) :1281-8
PMID: 25209258
Munafo M, Noble S, Browne WJ, Brunner D, Button K, Ferreira J, Holmans P, Langbehn D, Lewis G, Lindquist M, Tilling K, Wagenmakers EJ, Blumenstein R
Scientific rigor and the art of motorcycle maintenance
Nat Biotechnol
September 1, 2014
32 (9) :871-3
PMID: 25203032
Smith GA, Rocha EM, McLean JR, Hayes MA, Izen SC, Isacson O, Hallett PJ
Progressive axonal transport and synaptic protein changes correlate with behavioral and neuropathological abnormalities in the heterozygous Q175 KI mouse model of Huntington`s disease
Hum Mol Genet
September 1, 2014
23 (17) :4510-27
PMID: 24728190
Kozak R, Campbell BM, Strick CA, Horner W, Hoffmann WE, Kiss T, Chapin DS, McGinnis D, Abbott AL, Roberts BM, Fonseca K, Guanowsky V, Young DA, Seymour PA, Dounay A, Hajos M, Williams GV, Castner SA
Reduction of brain kynurenic acid improves cognitive function
J Neurosci
August 6, 2014
34 (32) :10592-602
PMID: 25100593
PMCID: 6802596
Georgiou-Karistianis N, Long JD, Lourens SG, Stout JC, Mills JA, Paulsen JS, Predict-Hd Investigators and Coordinators Of The Huntington Study Group
Movement sequencing in Huntington disease
World J Biol Psychiatry
August 1, 2014
15 (6) :459-71
PMID: 24678867
PMCID: 4389285
Butland SL, Sanders SS, Schmidt ME, Riechers SP, Lin DT, Martin DD, Vaid K, Graham RK, Singaraja RR, Wanker EE, Conibear E, Hayden MR
The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease
Hum Mol Genet
August 1, 2014
23 (15) :4142-60
PMID: 24705354
PMCID: 4082372
Mielcarek M, Inuabasi L, Bondulich MK, Muller T, Osborne GF, Franklin SA, Smith DL, Neueder A, Rosinski J, Rattray I, Protti A, Bates GP
Dysfunction of the CNS-heart axis in mouse models of Huntington`s disease
PLoS Genet
August 1, 2014
10 (8) :e1004550
PMID: 25101683
PMCID: PMC4125112
Downing NR, Kim JI, Williams JK, Long JD, Mills JA, Paulsen JS, Predict-Hd Investigators, Coordinators of the Huntington Study Group
WHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease
Eur J Hum Genet
August 1, 2014
22 (8) :958-63
PMID: 24327189
PMCID: PMC4350592
Dominguez C, Munoz-Sanjuan I
Foundation-directed therapeutic development in Huntington`s disease
J Med Chem
July 10, 2014
57 (13) :5479-88
PMID: 24432836
McKinstry SU, Karadeniz YB, Worthington AK, Hayrapetyan VY, Ozlu MI, Serafin-Molina K, Risher WC, Ustunkaya T, Dragatsis I, Zeitlin S, Yin HH, Eroglu C
Huntingtin is required for normal excitatory synapse development in cortical and striatal circuits
J Neurosci
July 9, 2014
34 (28) :9455-72
PMID: 25009276
PMCID: 4087216
Plotkin JL, Day M, Peterson JD, Xie Z, Kress GJ, Rafalovich I, Kondapalli J, Gertler TS, Flajolet M, Greengard P, Stavarache M, Kaplitt MG, Rosinski J, Chan CS, Surmeier DJ
Impaired TrkB receptor signaling underlies corticostriatal dysfunction in Huntington`s disease
Neuron
July 2, 2014
83 (1) :178-88
PMID: 24991961
PMCID: PMC4131293
Morton AJ, Rudiger SR, Wood NI, Sawiak SJ, Brown GC, Mclaughlan CJ, Kuchel TR, Snell RG, Faull RL, Bawden CS
Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment
Hum Mol Genet
July 1, 2014
23 (13) :3375-83
PMID: 24488771
Andre R, Scahill RI, Haider S, Tabrizi SJ
Biomarker development for Huntington's disease
Drug Discov Today
July 1, 2014
19 (7) :972-9
PMID: 24632006
Sepers MD, Raymond LA
Mechanisms of synaptic dysfunction and excitotoxicity in Huntington`s disease
Drug Discov Today
July 1, 2014
19 (7) :990-6
PMID: 24603212
Signer, E
Through postdoc eyes
Res Microbiol
June 1, 2014
165 (5) :346-7
PMID: 24859142
Georgiou-Karistianis N, Stout JC, Domínguez D JF, Carron SP, Ando A, Churchyard A, Chua P, Bohanna I, Dymowski AR, Poudel G, Egan GF
Functional magnetic resonance imaging of working memory in Huntington's disease: cross-sectional data from the IMAGE-HD study
Hum Brain Mapp
May 1, 2014
35 (5) :1847-64
PMID: 23913754
PMCID: 6869353
Paul BD, Sbodio JI, Xu R, Vandiver MS, Cha JY, Snowman AM, Snyder SH
Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington's disease
Nature
May 1, 2014
509 (7498) :96-100
PMID: 24670645
PMCID: 4349202
Poudel GR, Stout JC, Domínguez D JF, Salmon L, Churchyard A, Chua P, Georgiou-Karistianis N, Egan GF
White matter connectivity reflects clinical and cognitive status in Huntington's disease
Neurobiol Dis
May 1, 2014
65 :180-7
PMID: 24480090
Tong X, Ao Y, Faas GC, Nwaobi SE, Xu J, Haustein MD, Anderson MA, Mody I, Olsen ML, Sofroniew MV, Khakh BS
Astrocyte Kir4.1 ion channel deficits contribute to neuronal dysfunction in Huntington's disease model mice
Nat Neurosci
May 1, 2014
17 (5) :694-703
PMID: 24686787
PMCID: 4064471
Wang N, Gray M, Lu XH, Cantle JP, Holley SM, Greiner E, Gu X, Shirasaki D, Cepeda C, Li Y, Dong H, Levine MS, Yang XW
Neuronal targets for reducing mutant huntingtin expression to ameliorate disease in a mouse model of Huntington's disease
Nat Med
May 1, 2014
20 (5) :536-41
PMID: 24784230
PMCID: 4067603