Scientific Publications

Listed here are over 1,035 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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Domínguez D JF, Egan GF, Gray MA, Poudel GR, Churchyard A, Chua P, Stout JC, Georgiou-Karistianis N
Multi-modal neuroimaging in premanifest and early Huntington's disease: 18 month longitudinal data from the IMAGE-HD study
PLoS One
September 16, 2013
8 (9) :e74131
PMID: 24066104
PMCID: 3774648
Sbodio JI, Paul BD, Machamer CE, Snyder SH
Golgi protein ACBD3 mediates neurotoxicity associated with Huntington's disease
Cell Rep
September 12, 2013
4 (5) :890-897
PMID: 24012756
PMCID: 3801179
Lee CY, Cantle JP, Yang XW
Genetic manipulations of mutant huntingtin in mice: new insights into Huntington's disease pathogenesis
FEBS J
September 2, 2013
280 (18) :4382-94
PMID: 23829302
PMCID: 3770892
Tang CC, Feigin A, Ma Y, Habeck C, Paulsen JS, Leenders KL, Teune LK, van Oostrom JC, Guttman M, Dhawan V, Eidelberg D
Metabolic network as a progression biomarker of premanifest Huntington's disease
J Clin Invest
September 2, 2013
123 (9) :4076-88
PMID: 23985564
PMCID: 3754266
Maillard MC, Dominguez C, Gemkow MJ, Krieger F, Park H, Schaertl S, Winkler D, Munoz-Sanjuan I
A label-free LC/MS/MS-based enzymatic activity assay for the detection of genuine caspase inhibitors and SAR development
J Biomol Screen
September 1, 2013
18 (8) :868-78
PMID: 23796689
Winkler D, Beconi M, Toledo-Sherman LM, Prime M, Ebneth A, Dominguez C, Munoz-Sanjuan I
Development of LC/MS/MS, high-throughput enzymatic and cellular assays for the characterization of compounds that inhibit kynurenine monooxygenase (KMO)
J Biomol Screen
September 1, 2013
18 (8) :879-89
PMID: 23690293
Delmaire C, Dumas EM, Sharman MA, van den Bogaard SJ, Valabregue R, Jauffret C, Justo D, Reilmann R, Stout JC, Craufurd D, Tabrizi SJ, Roos RA, Durr A, Lehericy S
The structural correlates of functional deficits in early huntington`s disease
Hum Brain Mapp
September 1, 2013
34 (9) :2141-53
PMID: 22438242
Lee JM, Galkina EI, Levantovsky RM, Fossale E, Anne Anderson M, Gillis T, Srinidhi Mysore J, Coser KR, Shioda T, Zhang B, Furia MD, Derry J, Kohane IS, Seong IS, Wheeler VC, Gusella JF, MacDonald ME
Dominant effects of the Huntington`s disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy
Hum Mol Genet
August 15, 2013
22 (16) :3227-38
PMID: 23595883
PMCID: PMC3723309
Marco S, Giralt A, Petrovic MM, Pouladi MA, Martínez-Turrillas R, Martínez-Hernández J, Kaltenbach LS, Torres-Peraza J, Graham RK, Watanabe M, Luján R, Nakanishi N, Lipton SA, Lo DC, Hayden MR, Alberch J, Wesseling JF, Pérez-Otaño I
Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models
Nat Med
August 4, 2013
19 (8) :1030-38
PMID: 23852340
PMCID: 3936794
Divino V, Dekoven M, Warner JH, Giuliano J, Anderson KE, Langbehn D, Lee WC
The direct medical costs of Huntington`s disease by stage. A retrospective commercial and Medicaid claims data analysis
J Med Econ
August 1, 2013
16 (8) :1043-50
PMID: 23789925
Bonner-Jackson A, Long JD, Westervelt H, Tremont G, Aylward E, Paulsen JS, Predict-Hd Investigators, Coordinators of the Huntington Study Group
Cognitive reserve and brain reserve in prodromal Huntington`s disease
J Int Neuropsychol Soc
August 1, 2013
19 (7) :739-50
PMID: 23702309
PMCID: PMC3720793
Delli Carri A, Onorati M, Castiglioni V, Faedo A, Camnasio S, Toselli M, Biella G, Cattaneo E
Human pluripotent stem cell differentiation into authentic striatal projection neurons
Stem Cell Rev
August 1, 2013
9 (4) :461-74
PMID: 23625190
O’Rourke JG, Gareau JR, Ochaba J, Song W, Raskó T, Reverter D, Lee J, Monteys AM, Pallos J, Mee L, Vashishtha M, Apostol BL, Nicholson TP, Illes K, Zhu YZ, Dasso M, Bates GP, Difiglia M, Davidson B, Wanker EE, Marsh JL, Lima CD, Steffan JS, Thompson LM
SUMO-2 and PIAS1 modulate insoluble mutant huntingtin protein accumulation
Cell Rep
July 25, 2013
4 (2) :362-75
PMID: 23871671
PMCID: 3931302
Chen JY, Wang EA, Cepeda C, Levine MS
Dopamine imbalance in Huntington's disease: a mechanism for the lack of behavioral flexibility
Front Neurosci
July 4, 2013
7 :114
PMID: 23847463
PMCID: 3701870
Kantor S, Szabo L, Varga J, Cuesta M, Morton AJ
Progressive sleep and electroencephalogram changes in mice carrying the Huntington's disease mutation
Brain
July 2, 2013
136 (7) :2147-58
PMID: 23801737
Fisher SP, Black SW, Schwartz MD, Wilk AJ, Chen TM, Lincoln WU, Liu HW, Kilduff TS, Morairty SR
Longitudinal analysis of the electroencephalogram and sleep phenotype in the R6/2 mouse model of Huntington's disease
Brain
July 1, 2013
136 (7) :2159-72
PMID: 23801738
Bari M, Battista N, Valenza M, Mastrangelo N, Malaponti M, Catanzaro G, Centonze D, Finazzi-Agrò A, Cattaneo E, Maccarrone M
In vitro and in vivo models of Huntington's disease show alterations in the endocannabinoid system
FEBS J
July 1, 2013
280 (14) :3376-88
PMID: 23659592
Vellas B, Carrillo MC, Sampaio C, Brashear HR, Siemers E, Hampel H, Schneider LS, Weiner M, Doody R, Khachaturian Z, Cedarbaum J, Grundman M, Broich K, Giacobini E, Dubois B, Sperling R, Wilcock GK, Fox N, Scheltens P, Touchon J, Hendrix S, Andrieu S, Aisen P, EU US CTAD Task Force Members
Designing drug trials for Alzheimer`s disease: what we have learned from the release of the phase III antibody trials: a report from the EU/US/CTAD Task Force
Alzheimers Dement
July 1, 2013
9 (4) :438-44
PMID: 23809364
Tabrizi SJ, Scahill RI, Owen G, Durr A, Leavitt BR, Roos RA, Borowsky B, Landwehrmeyer B, Frost C, Johnson H, Craufurd D, Reilmann R, Stout JC, Langbehn DR, Track-Hd Investigators
Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington`s disease in the TRACK-HD study: analysis of 36-month observational data
Lancet Neurol
July 1, 2013
12 (7) :637-49
PMID: 23664844
Jiang M, Peng Q, Liu X, Jin J, Hou Z, Zhang J, Mori S, Ross CA, Ye K, Duan W
Small-molecule TrkB receptor agonists improve motor function and extend survival in a mouse model of Huntington's disease
Hum Mol Genet
June 15, 2013
22 (12) :2462-70
PMID: 23446639
PMCID: 3658168
Parmentier F, Lejeune FX, Neri C
Pathways to decoding the clinical potential of stress response FOXO-interaction networks for Huntington's disease: of gene prioritization and context dependence
Front Aging Neurosci
June 13, 2013
5 :22
PMID: 23781200
PMCID: 3680703
Benraiss A, Toner MJ, Xu Q, Bruel-Jungerman E, Rogers EH, Wang F, Economides AN, Davidson BL, Kageyama R, Nedergaard M, Goldman SA
Sustained mobilization of endogenous neural progenitors delays disease progression in a transgenic model of Huntington's disease
Cell Stem Cell
June 6, 2013
12 (6) :787-99
PMID: 23746982
PMCID: 4051319
Wolf RC, Thomann PA, Thomann AK, Vasic N, Wolf ND, Landwehrmeyer GB, Orth M
Brain structure in preclinical Huntington's disease: a multi-method approach
Neurodegener Dis
June 1, 2013
12 (1) :13-22
PMID: 22906775
Conforti P, Mas Monteys A, Zuccato C, Buckley NJ, Davidson B, Cattaneo E
In vivo delivery of DN:REST improves transcriptional changes of REST-regulated genes in HD mice
Gene Ther
June 1, 2013
20 (6) :678-85
PMID: 23151521
Borowsky B, Warner J, Leavitt BR, Tabrizi SJ, Roos RA, Durr A, Becker C, Sampaio C, Tobin AJ, Schulman H
8OHdG is not a biomarker for Huntington disease state or progression
Neurology
May 21, 2013
80 (21) :1934-41
PMID: 23616162
PMCID: PMC3716347
Jahanshahi A, Vlamings R, van Roon-Mom WM, Faull RL, Waldvogel HJ, Janssen ML, Yakkioui Y, Zeef DH, Kocabicak E, Steinbusch HW, Temel Y
Changes in brainstem serotonergic and dopaminergic cell populations in experimental and clinical Huntington's disease
Neuroscience
May 15, 2013
238 :71-81
PMID: 23403175
Labuschagne I, Jones R, Callaghan J, Whitehead D, Dumas EM, Say MJ, Hart EP, Justo D, Coleman A, Dar Santos RC, Frost C, Craufurd D, Tabrizi SJ, Stout JC, Track-Hd Investigators
Emotional face recognition deficits and medication effects in pre-manifest through stage-II Huntington`s disease
Psychiatry Res
May 15, 2013
207 (43832) :118-26
PMID: 23051887
Beste C, Stock AK, Ness V, Hoffmann R, Lukas C, Saft C
A novel cognitive-neurophysiological state biomarker in premanifest Huntington's disease validated on longitudinal data
Sci Rep
May 8, 2013
3 :1797
PMID: 23652721
PMCID: 3647202
Liot G, Zala D, Pla P, Mottet G, Piel M, Saudou F
Mutant Huntingtin alters retrograde transport of TrkB receptors in striatal dendrites
J Neurosci
April 10, 2013
33 (15) :6298-309
PMID: 23575829
PMCID: 6619069
Rattray I, Smith E, Gale R, Matsumoto K, Bates GP, Modo M
Correlations of behavioral deficits with brain pathology assessed through longitudinal MRI and histopathology in the R6/2 mouse model of HD
PLoS One
April 4, 2013
8 (4) :e60012
PMID: 23593159
PMCID: 3617160
Lewandowski NM, Bordelon Y, Brickman AM, Angulo S, Khan U, Muraskin J, Griffith EY, Wasserman P, Menalled L, Vonsattel JP, Marder K, Small SA, Moreno H
Regional vulnerability in Huntington's disease: fMRI-guided molecular analysis in patients and a mouse model of disease
Neurobiol Dis
April 2, 2013
52 :84-93
PMID: 23220414
PMCID: 4435974
Biglan KM, Zhang Y, Long JD, Geschwind M, Kang GA, Killoran A, Lu W, McCusker E, Mills JA, Raymond LA, Testa C, Wojcieszek J, Paulsen JS, PREDICT-HD Investigators of the Huntington Study Group
Refining the diagnosis of Huntington disease: the PREDICT-HD study
Front Aging Neurosci
April 2, 2013
5 :12
PMID: 23565093
PMCID: 3613616
Dumas EM, van den Bogaard SJ, Hart EP, Soeter RP, van Buchem MA, van der Grond J, Rombouts SA, Roos RA, TRACK-HD investigator group
Reduced functional brain connectivity prior to and after disease onset in Huntington's disease
Neuroimage Clin
March 14, 2013
2 :377-84
PMID: 24179791
PMCID: 3778251
Brooks SP, Dunnett SB
Cognitive deficits in animal models of basal ganglia disorders
Brain Res Bull
March 1, 2013
92 :29-40
PMID: 22588013
Papp KV, Snyder PJ, Mills JA, Duff K, Westervelt HJ, Long JD, Lourens S, Paulsen JS
Measuring executive dysfunction longitudinally and in relation to genetic burden, brain volumetrics, and depression in prodromal Huntington disease
Arch Clin Neuropsychol
March 1, 2013
28 (2) :156-68
PMID: 23246934
PMCID: PMC3569950
Georgiou-Karistianis N, Gray MA, Dominguez DJf, Dymowski AR, Bohanna I, Johnston LA, Churchyard A, Chua P, Stout JC, Egan GF
Automated differentiation of pre-diagnosis Huntington`s disease from healthy control individuals based on quadratic discriminant analysis of the basal ganglia: the IMAGE-HD study
Neurobiol Dis
March 1, 2013
51 :82-92
PMID: 23069680
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease
Proc Natl Acad Sci U S A
February 5, 2013
110 (6) :2366-70
PMID: 23341618
PMCID: PMC3568346
van den Bogaard SJ, Dumas EM, Hart EP, Milles J, Reilmann R, Stout JC, Craufurd D, Gibbard CR, Tabrizi SJ, van Buchem MA, van der Grond J, Roos RA
Magnetization transfer imaging in premanifest and manifest huntington disease: a 2-year follow-up
AJNR Am J Neuroradiol
February 1, 2013
34 (2) :317-22
PMID: 22918430
Southwell AL, Warby SC, Carroll JB, Doty CN, Skotte NH, Zhang W, Villanueva EB, Kovalik V, Xie Y, Pouladi MA, Collins JA, Yang XW, Franciosi S, Hayden MR
A fully humanized transgenic mouse model of Huntington disease
Hum Mol Genet
January 1, 2013
22 (1) :18-34
PMID: 23001568
PMCID: 3606012
van Wamelen DJ, Aziz NA, Anink JJ, van Steenhoven R, Angeloni D, Fraschini F, Jockers R, Roos RA, Swaab DF
Suprachiasmatic nucleus neuropeptide expression in patients with Huntington's disease
Sleep
January 1, 2013
36 (1) :117-25
PMID: 23288978
PMCID: 3524533