Scientific Publications

Listed here are over 900 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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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
Sepers MD, Smith-Dijak A, LeDue J, Kolodziejczyk K, Mackie K, Raymond LA
Endocannabinoid-specific impairment in synaptic plasticity in striatum of Huntington's disease mouse model
J Neurosci
January 17, 2018
38 (3) :544-554
PMID: 29192125
Langfelder P, Gao F, Wang N, Howland D, Kwak S, Vogt TF, Aaronson JS, Rosinski J, Coppola G, Horvath S, Yang XW
MicroRNA signatures of endogenous Huntingtin CAG repeat expansion in mice
PLoS One
January 11, 2018
13 (1) :e0190550
PMID: 29324753
Carlozzi NE, Hahn EA, Frank SA, Perlmutter JS, Downing ND, McCormack MK, Barton S, Nance MA, Schilling SG, HDQLIFE Site Investigators and Coordinators
A new measure for end of life planning, preparation, and preferences in Huntington disease: HDQLIFE end of life planning
J Neurol
January 10, 2018
265 (1) :98-107
PMID: 29143208
PMCID: PMC5762414
Conforti P, Besusso D, Bocchi VD, Faedo A, Cesana E, Rossetti G, Ranzani V, Svendsen CN, Thompson LM, Toselli M, Biella G, Pagani M, Cattaneo E
Faulty neuronal determination and cell polarization are reverted by modulating HD early phenotypes
Proc Natl Acad Sci USA
January 8, 2018
115 (4) :E762-E771
PMID: 29311338
Mestre TA, Forjaz MJ, Mahlknecht P, Cardoso F, Ferreira JJ, Reilmann R, Sampaio C, Goetz CG, Cubo E, Martinez-Martin P, Stebbins GT, Members of the Movement Disorder Society Committee on Rating Scales Development
Rating scales for motor symptoms and signs in Huntington's disease: Critique and recommendations
Mov Disord Clin Pract
January 3, 2018
5 (2) :111-117
PMID: 30363393
PMCID: 6174417
Wang HB, Loh DH, Whittaker DS, Cutler T, Howland D, Colwell CS
Time-restricted feeding improves circadian dysfunction as well as motor symptoms in the Q175 mouse model of Huntington's disease
eNeuro
January 3, 2018
5 (1)
PMID: 29302618
PMCID: PMC5752678
Al-Ramahi I, Panapakkam Giridharan SS, Chen YC, Patnaik S, Safren N, Hasegawa J, de Haro M, Wagner Gee AK, Titus SA, Jeong H, Clarke J, Krainc D, Zheng W, Irvine RF, Barmada S, Ferrer M, Southall N, Weisman LS, Botas J, Marugan JJ
Inhibition of PIP4Kγ ameliorates the pathological effects of mutant huntingtin protein
elife
December 26, 2017
6 :e29123
PMID: 29256861
PMCID: PMC5743427
Hensman Moss DJ, Robertson N, Farmer R, Scahill RI, Haider S, Tessari MA, Flynn G, Fischer DF, Wild EJ, Macdonald D, Tabrizi SJ
Quantification of huntingtin protein species in Huntington's disease patient leukocytes using optimised electrochemiluminescence immunoassays
PLoS One
December 22, 2017
12 (12) :e0189891
PMID: 29272284
Schobel SA, Palermo G, Auinger P, Long JD, Ma S, Khwaja OS, Trundell D, Cudkowicz M, Hersch S, Sampaio C, Dorsey ER, Leavitt BR, Kieburtz KD, Sevigny JJ, Langbehn DR, Tabrizi SJ, TRACK-HD, COHORT, CARE-HD, and 2CARE Huntington Study Group Investigators
Motor, cognitive, and functional declines contribute to a single progressive factor in early HD
Neurology
December 12, 2017
89 (24) :2495-2502
PMID: 29142089
PMCID: PMC5729794
Fodale V, Boggio R, Daldin M, Cariulo C, Spiezia MC, Byrne LM, Leavitt BR, Wild EJ, Macdonald D, Weiss A, Bresciani A
Validation of ultrasensitive mutant Huntingtin detection in human cerebrospinal fluid by single molecule counting immunoassay
J Huntingtons Dis
December 12, 2017
6 (4) :349-361
PMID: 29125493
Dickey AS, Sanchez DN, Arreola M, Sampat KR, Fan W, Arbez N, Akimov S, Van Kanegan MJ, Ohnishi K, Gilmore-Hall SK, Flores AL, Nguyen JM, Lomas N, Hsu CL, Lo DC, Ross CA, Masliah E, Evans RM, La Spada AR
PPARδ activation by bexarotene promotes neuroprotection by restoring bioenergetic and quality control homeostasis
Sci Transl Med
December 6, 2017
9 (419) :eaal2332
PMID: 29212711
PMCID: PMC5748332
Arbez N, Ratovitski T, Roby E, Chighladze E, Stewart JC, Ren M, Wang X, Lavery DJ, Ross CA|
Post-translational modifications clustering within proteolytic domains decrease mutant huntingtin toxicity
J Biol Chem
November 24, 2017
292 (47) :19238-19249
PMID: 28972180
Friedman A, Homma D, Bloem B, Gibb LG, Amemori KI, Hu D, Delcasso S, Truong TF, Yang J, Hood AS, Mikofalvy KA, Beck DW, Nguyen N, Nelson ED, Toro Arana SE, Vorder Bruegge RH, Goosens KA, Graybiel AM
Chronic stress alters striosome-circuit dynamics, leading to aberrant decision-making
Cell
November 16, 2017
171 (5) :1191-1205
PMID: 29149606
PMCID: PMC5734095
Long JD, Mills JA, Leavitt BR, Durr A, Roos RA, Stout JC, Reilmann R, Landwehrmeyer B, Gregory S, Scahill RI, Langbehn DR, Tabrizi SJ, Track-HD and Track-On Investigators
Survival end points for Huntington disease trials prior to a motor diagnosis
JAMA Neurol
November 1, 2017
74 (11) :1352-1360
PMID: 28975278
PMCID: 5710578