Scientific Publications

Listed here are over 850 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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McClory H, Wang X, Sapp E, Gatune LW, Iuliano M, Wu CY, Nathwani G, Kegel-Gleason KB, DiFiglia M, Li X
The COOH-terminal domain of huntingtin interacts with RhoGEF kalirin and modulates cell survival
Sci Rep
May 22, 2018
8 (1)
PMID: 29789657
Schuldenzucker V, Schubert R, Muratori LM, Freisfeld F, Rieke L, Matheis T, Schramke S, Motlik J, Kemper N, Radespiel U, Reilmann R
Behavioral assessment of stress compensation in minipigs transgenic for the Huntington gene using cortisol levels: a proof-of-concept study
J Huntingtons Dis
May 19, 2018
7 (2) :151-161
PMID: 29843247
Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM
Population-specific genetic modification of Huntington's disease in Venezuela
PLoS Genet
May 11, 2018
14 (5) :e1007274
PMID: 29750799
Mestre TA, Busse M, Davis AM, Quinn L, Rodrigues FB, Burgunder JM, Carlozzi NE, Walker F, Ho AK, Sampaio C, Goetz CG, Cubo E, Martinez-Martin P, Stebbins GT, Members of the MDS Committee on Rating Scales Development
Rating scales and performance-based measures for assessment of functional ability in Huntington's disease: critique and recommendations
Mov Disord Clin Pract
May 9, 2018
5 (4) :361-372
PMID: 30363510
PMCID: PMC6174516
Castro E, Polosecki P, Rish I, Pustina D, Warner JH, Wood A, Sampaio C, Cecchi GA
Baseline multimodal information predicts future motor impairment in premanifest Huntington's disease
Neuroimage Clin
May 9, 2018
19 :443-453
PMID: 29984153
PMCID: PMC6029560
Lee JK, Conrad A, Epping E, Mathews K, Magnotta V, Dawson JD, Nopoulos P
Effect of trinucleotide repeats in the Huntington's gene on intelligence
EBioMedicine
May 1, 2018
31 :47-53
PMID: 29685790
PMCID: 6013750
Pattamatta A, Cleary JD, Ranum LPW
All in the family: repeats and ALS/FTD
Trends Neurosci
May 1, 2018
41 (5) :247-250
PMID: 29703376
PMCID: 5965280
Gregory S, Crawford H, Seunarine K, Leavitt B, Durr A, Roos RAC, Scahill RI, Tabrizi SJ, Rees G, Langbehn D, Orth M
Natural biological variation of white matter microstructure is accentuated in Huntington's disease
Hum Brain Mapp
April 22, 2018
PMID: 29682858
Beckmann H, Bohlen S, Saft C, Hoffmann R, Gerss J, Muratori L, Ringelstein EB, Landwehrmeyer GB, Reilmann R
Objective assessment of gait and posture in premanifest and manifest Huntington disease - A multi-center study
Gait Posture
April 17, 2018
62 :451-457
PMID: 29660633
Sun Z, Li Y, Ghosh S, Cheng Y, Mohan A, Sampaio C, Hu J
A data-driven method for generating robust symptom onset indicators in Huntington's disease registry data
AMIA Annu Symp Proc
April 16, 2018
2017 :1635-1644
PMID: 29854234
PMCID: 5977625
Wijeratne PA, Young AL, Oxtoby NP, Marinescu RV, Firth NC, Johnson EB, Mohan A, Sampaio C, Scahill RI, Tabrizi SJ, Alexander DC
An image-based model of brain volume biomarker changes in Huntington's disease
Ann Clin Transl Neurol
April 2, 2018
5 (5) :570-582
PMID: 29761120
PMCID: PMC5945962
Reiner A, Deng YP
Disrupted striatal neuron inputs and outputs in Huntington's disease
CNS Neurosci Ther
April 2, 2018
24 (4) :250-280
PMID: 29582587
PMCID: PMC5875736
Carlozzi NE, Hahn EA, Goodnight SM, Kratz AL, Paulsen JS, Stout JC, Frank S, Miner JA, Cella D, Gershon RC, Schilling SG, Ready RE
Patient-reported outcome measures in Huntington disease: Quality of life in neurological disorders (Neuro-QoL) social functioning measures
Psychol Assess
April 2, 2018
30 (4) :450-458
PMID: 28557480
PMCID: PMC5708162
Lai JS, Goodnight S, Downing NR, Ready RE, Paulsen JS, Kratz AL, Stout JC, McCormack MK, Cella D, Ross C, Russell J, Carlozzi NE
Evaluating cognition in individuals with Huntington disease: Neuro-QoL cognitive functioning measures
Qual Life Res
March 30, 2018
27 (3) :811-822
PMID: 29222609
PMCID: PMC5845825
Baake V, Coppen EM, van Duijn E, Dumas EM, van den Bogaard SJA, Scahill RI, Johnson H, Leavitt B, Durr A, Tabrizi SJ, Craufurd D, Roos RAC, Track-HD investigators
Apathy and atrophy of subcortical brain structures in Huntington's disease: A two-year follow-up study
Neuroimage Clin
March 27, 2018
19 :66-70
PMID: 30035003
PMCID: PMC6051315
Ament SA, Pearl JR, Cantle JP, Bragg RM, Skene PJ, Coffey SR, Bergey DE, Wheeler VC, MacDonald ME, Baliga NS, Rosinski J, Hood LE, Carroll JB, Price ND
Transcriptional regulatory networks underlying gene expression changes in Huntington's disease
Mol Syst Biol
March 26, 2018
14 (3) :e7435
PMID: 29581148
PMCID: PMC5868199
Mestre TA, Carlozzi NE, Ho AK, Burgunder JM, Walker F, Davis AM, Busse M, Quinn L, Rodrigues FB, Sampaio C, Goetz CG, Cubo E, Martinez-Martin P, Stebbins GT, Members of the MDS Committee on Rating Scales Development|
Quality of life in Huntington's disease: Critique and recommendations for measures assessing patient health-related quality of life and caregiver quality of life
Mov Disord
March 23, 2018
33 (5) :742-749
PMID: 29570848
Bresciani A, Spiezia MC, Boggio R, Cariulo C, Nordheim A, Altobelli R, Kuhlbrodt K, Dominguez C, Munoz-Sanjuan I, Wityak J, Fodale V, Marchionini DM, Weiss A
Quantifying autophagy using novel LC3B and p62 TR-FRET assays
PLoS One
March 19, 2018
13 (3) :e0194423
PMID: 29554128
PMCID: PMC5858923
Ouk K, Aungier J, Cuesta M, Morton AJ
Chronic paroxetine treatment prevents disruption of methamphetamine-sensitive circadian oscillator in a transgenic mouse model of Huntington's disease
Neuropharmacology
March 15, 2018
131 :337-350
PMID: 29274752
Minkova L, Gregory S, Scahill RI, Abdulkadir A, Kaller CP, Peter J, Long JD, Stout JC, Reilmann R, Roos RA, Durr A, Leavitt BR, Tabrizi SJ, Klöppel S, TRACK-HD Investigators
Cross-sectional and longitudinal voxel-based grey matter asymmetries in Huntington's disease
Neuroimage Clin
March 13, 2018
17 :312-324
PMID: 29527479
PMCID: PMC5842644
Espinoza FA, Turner JA, Vergara VM, Miller RL, Mennigen E, Liu J, Misiura MB, Ciarochi J, Johnson HJ, Long JD, Bockholt HJ, Magnota VA, Paulsen JS, Calhoun VD
Whole-brain connectivity in a large study of Huntington's disease gene mutation carriers and healthy controls
Brain Connect
March 8, 2018
PMID: 29291624
Lee CYD, Daggett A, Gu X, Jiang LL, Langfelder P, Li X, Wang N, Zhao Y, Park CS, Cooper Y, Ferando I, Mody I, Coppola G, Xu H, Yang XW
Elevated TREM2 gene dosage reprograms microglia responsivity and ameliorates pathological phenotypes in Alzheimer's disease models
Neuron
March 7, 2018
97 (5) :1032-1048
PMID: 29518357
Guo Q, Bin Huang, Cheng J, Seefelder M, Engler T, Pfeifer G, Oeckl P, Otto M, Moser F, Maurer M, Pautsch A, Baumeister W, Fernández-Busnadiego R, Kochanek S
The cryo-electron microscopy structure of huntingtin
Nature
March 1, 2018
555 (7694) :117-120
PMID: 29466333
Odish OFF, Reijntjes RHAM, van den Bogaard SJA, Roos RAC, Leemans A
Progressive microstructural changes of the occipital cortex in Huntington's disease
Brain Imaging Behav
February 28, 2018
PMID: 29492750
Kielar C, Morton AJ
Early neurodegeneration in R6/2 mice carrying the Huntington's disease mutation with a super-expanded CAG repeat, despite normal lifespan
J Huntingtons Dis
February 27, 2018
7 (1) :61-76
PMID: 29480204
Kovalenko M, Milnerwood A, Giordano J, St Claire J, Guide JR, Stromberg M, Gillis T, Sapp E, DiFiglia M, MacDonald ME, Carroll JB, Lee JM, Tappan S, Raymond L, Wheeler VC
HttQ111/+ Huntington's disease knock-in mice exhibit brain region-specific morphological changes and synaptic dysfunction
J Huntingtons Dis
February 24, 2018
7 (1) :17-33
PMID: 29480209
Pfister EL, DiNardo N, Mondo E, Borel F, Conroy F, Fraser C, Gernoux G, Han X, Hu D, Johnson E, Kennington L, Liu P, Reid SJ, Sapp E, Vodicka P, Kuchel T, Morton AJ, Howland D, Moser R, Sena-Esteves M, Gao G, Mueller C, DiFiglia M, Aronin N
Artificial miRNAs reduce Human Mutant Huntingtin throughout the striatum in a transgenic sheep model of Huntington's disease
Hum Gene Ther
February 23, 2018
PMID: 29207890
Veldman MB, Yang XW
Molecular insights into cortico-striatal miscommunications in Huntington's disease
Curr Opin Neurobiol
February 22, 2018
48 :79-89
PMID: 29125980
PMCID: PMC5825262
Davis MI, Crittenden JR, Feng AY, Kupferschmidt DA, Naydenov A, Stella N, Graybiel AM, Lovinger DM
The cannabinoid-1 receptor is abundantly expressed in striatal striosomes and striosome-dendron bouquets of the substantia nigra
PLoS One
February 21, 2018
13 (2) :e0191436
PMID: 29466446
PMCID: 5821318
Rebec GV
Corticostriatal network dysfunction in huntington's disease: Deficits in neural processing, glutamate transport, and ascorbate release
CNS Neurosci Ther
February 21, 2018
24 (4) :281-291
PMID: 29464896
Sampaio C, Levey J, Klitzman R
Predictive testing and clinical trials in Huntington's disease: An ethical analysis
Mov Disord
February 20, 2018
33 (2) :243-247
PMID: 29205501
PMCID: PMC5854324
Mestre TA, Bachoud-Lévi AC, Marinus J, Stout JC, Paulsen JS, Como P, Duff K, Sampaio C, Goetz CG, Cubo E, Stebbins GT, Martinez-Martin P, Members of the MDS Committee on Rating Scales Development
Rating scales for cognition in Huntington's disease: Critique and recommendations
Mov Disord
February 19, 2018
33 (2) :187-195
PMID: 29278291
Hassler MR, Turanov AA, Alterman JF, Haraszti RA, Coles AH, Osborn MF, Echeverria D, Nikan M, Salomon WE, Roux L, Godinho BMDC, Davis SM, Morrissey DV, Zamore PD, Karumanchi SA, Moore MJ, Aronin N, Khvorova A
Comparison of partially and fully chemically-modified siRNA in conjugate-mediated delivery in vivo
Nucleic Acids Res
February 8, 2018
:43842
PMID: 29432571
Harrison DJ Roberton VH Vinh NN Brooks SP Dunnett SB Rosser AE
The effect of tissue preparation and donor age on striatal graft morphology in the mouse
Cell Transplant
February 2, 2018
27 (2) :230-244
PMID: 29637815
PMCID: PMC5898691
Arnerić SP, Kern VD, Stephenson DT
Regulatory-accepted drug development tools are needed to accelerate innovative CNS disease treatments
Biochem Pharmacol
January 30, 2018
151 :291-306
PMID: 29410157
Ruzo A, Croft GF, Metzger JJ, Galgoczi S, Gerber LJ, Pellegrini C, Wang H Jr, Fenner M, Tse S, Marks A, Nchako C, Brivanlou AH
Chromosomal instability during neurogenesis in Huntington's disease
Development
January 29, 2018
145 (2) :dev156844
PMID: 29378824
Johnson EB, Byrne LM, Gregory S, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RA, Zetterberg H, Tabrizi SJ, Scahill RI, Wild EJ, TRACK-HD Study Group
Neurofilament light protein in blood predicts regional atrophy in Huntington disease
Neurology
January 24, 2018
PMID: 29367444
Reed ER, Latourelle JC, Bockholt JH, Bregu J, Smock J, Paulsen JS, Myers RH, PREDICT-HD CSF ancillary study investigators
MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD study
Neurology
January 23, 2018
90 (4) :e264-e272
PMID: 29282329
PMCID: 5798654
Sbodio JI, Snyder SH, Paul BD
Golgi stress response reprograms cysteine metabolism to confer cytoprotection in Huntington's disease
Proc Natl Acad Sci USA
January 23, 2018
115 (4) :780-785
PMID: 29317536
PMCID: 5789946
Casula EP, Mayer IMS, Desikan M, Tabrizi SJ, Rothwell JC, Orth M
Motor cortex synchronization influences the rhythm of motor performance in premanifest Huntington's disease
Mov Disord
January 22, 2018
33 (3) :440-448
PMID: 29356133