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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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
Read J, Jones R, Owen G, Leavitt BR, Coleman A, Roos RA, Dumas EM, Durr A, Justo D, Say M, Stout JC, Tabrizi SJ, Craufurd D, Track-Hd investigators
Quality of life in Huntington`s disease: a comparative study investigating the impact for those with pre-manifest and early manifest disease, and their partners
J Huntingtons Dis
January 1, 2013
2 (2) :159-75
PMID: 25063513
Baxa M, Hruska-Plochan M, Juhas S, Vodicka P, Pavlok A, Juhasova J, Miyanohara A, Nejime T, Klima J, Macakova M, Marsala S, Weiss A, Kubickova S, Musilova P, Vrtel R, Sontag EM, Thompson LM, Schier J, Hansikova H, Howland DS, Cattaneo E, DiFiglia M, Marsala M, Motlik J
A transgenic minipig model of Huntington`s Disease
J Huntingtons Dis
January 1, 2013
2 (1) :47-68
PMID: 25063429
Morton AJ, Howland DS
Large genetic animal models of Huntington`s Disease
J Huntingtons Dis
January 1, 2013
2 (1) :43909
PMID: 25063426
Liu W, Chaurette J, Pfister EL, Kennington LA, Chase KO, Bullock J, Vonsattel JP, Faull RL, Macdonald D, DiFiglia M, Zamore PD, Aronin N
Increased steady-state mutant huntingtin mRNA in Huntington`s Disease brain
J Huntingtons Dis
January 1, 2013
2 (4) :491-500
PMID: 25062733
Valencia A, Sapp E, Kimm JS, McClory H, Ansong KA, Yohrling G, Kwak S, Kegel KB, Green KM, Shaffer SA, Aronin N, DiFiglia M
Striatal synaptosomes from Hdh140Q/140Q knock-in mice have altered protein levels, novel sites of methionine oxidation, and excess glutamate release after stimulation
J Huntingtons Dis
January 1, 2013
2 (4) :459-75
PMID: 24696705
PMCID: PMC3970728
Oakeshott S, Farrar A, Port R, Cummins-Sutphen J, Berger J, Watson-Johnson J, Ramboz S, Howland D, Brunner D
Deficits in a simple visual go/no-go discrimination task in two mouse models of Huntington`s Disease
PLoS Curr
January 1, 2013
5
PMID: 24270512
PMCID: PMC3828223
Kudwa AE, Menalled LB, Oakeshott S, Murphy C, Mushlin R, Fitzpatrick J, Miller SF, McConnell K, Port R, Torello J, Howland D, Ramboz S, Brunner D
Increased body weight of the BAC HD transgenic mouse model of Huntington`s Disease accounts for some but not all of the observed HD-like motor deficits
PLoS Curr
January 1, 2013
5
PMID: 24042107
PMCID: PMC3770835
Balci F, Oakeshott S, Shamy JL, El-Khodor BF, Filippov I, Mushlin R, Port R, Connor D, Paintdakhi A, Menalled L, Ramboz S, Howland D, Kwak S, Brunner D
High-throughput automated phenotyping of two genetic mouse models of Huntington`s Disease
PLoS Curr
January 1, 2013
5
PMID: 23863947
PMCID: PMC3710674
Gray MA, Egan GF, Ando A, Churchyard A, Chua P, Stout JC, Georgiou-Karistianis N
Prefrontal activity in Huntington`s disease reflects cognitive and neuropsychiatric disturbances: the IMAGE-HD study
Exp Neurol
January 1, 2013
239 :218-28
PMID: 23123406
Sawiak SJ, Wood NI, Carpenter TA, Morton AJ
Huntington's disease mouse models online: high-resolution MRI images with stereotaxic templates for computational neuroanatomy
PLoS One
December 31, 2012
7 (12) :e53361
PMID: 23300918
PMCID: 3534048
Bouchard J, Truong J, Bouchard K, Dunkelberger D, Desrayaud S, Moussaoui S, Tabrizi SJ, Stella N, Muchowski PJ
Cannabinoid receptor 2 signaling in peripheral immune cells modulates disease onset and severity in mouse models of Huntington's disease
J Neurosci
December 12, 2012
32 (50) :18259-68
PMID: 23238740
PMCID: 3753072
Vlamings R, Benazzouz A, Chetrit J, Janssen ML, Kozan R, Visser-Vandewalle V, Steinbusch HW, von Hörsten S, Temel Y
Metabolic and electrophysiological changes in the basal ganglia of transgenic Huntington's disease rats
Neurobiol Dis
December 3, 2012
48 (3) :488-94
PMID: 22813864
Beconi MG, Yates D, Lyons K, Matthews K, Clifton S, Mead T, Prime M, Winkler D, O`Connell C, Walter D, Toledo-Sherman L, Munoz-Sanjuan I, Dominguez C
Metabolism and pharmacokinetics of JM6 in mice: JM6 is not a prodrug for Ro-61-8048
Drug Metab Dispos
December 1, 2012
40 (12) :2297-306
PMID: 22942319
Miller JP, Yates BE, Al-Ramahi I, Berman AE, Sanhueza M, Kim E, de Haro M, DeGiacomo F, Torcassi C, Holcomb J, Gafni J, Mooney SD, Botas J, Ellerby LM, Hughes RE
A genome-scale RNA-interference screen identifies RRAS signaling as a pathologic feature of Huntington's disease
PLoS Genet
November 29, 2012
8 (11) :e1003042
PMID: 23209424
PMCID: 3510027
Hadzi TC, Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Gillis T, Mysore JS, Gusella JF, MacDonald ME, Myers RH, Vonsattel JP
Assessment of cortical and striatal involvement in 523 Huntington disease brains
Neurology
October 16, 2012
79 (16) :1708-15
PMID: 23035064
PMCID: 3468776
Marullo M, Valenza M, Leoni V, Caccia C, Scarlatti C, De Mario A, Zuccato C, Di Donato S, Carafoli E, Cattaneo E
Pitfalls in the detection of cholesterol in Huntington's disease models
PLoS Curr
October 11, 2012
4 :e505886e9a1968
PMID: 23145355
PMCID: 3493072
Weiss A, Trager U, Wild EJ, Grueninger S, Farmer R, Landles C, Scahill RI, Lahiri N, Haider S, Macdonald D, Frost C, Bates GP, Bilbe G, Kuhn R, Andre R, Tabrizi SJ
Mutant huntingtin fragmentation in immune cells tracks Huntington`s disease progression
J Clin Invest
October 1, 2012
122 (10) :3731-6
PMID: 22996692
PMCID: PMC3461928
Reiner A, Wang HB, Del Mar N, Sakata K, Yoo W, Deng YP
BDNF may play a differential role in the protective effect of the mGluR2/3 agonist LY379268 on striatal projection neurons in R6/2 Huntington's disease mice
Brain Res
September 14, 2012
1473 :161-72
PMID: 22820300
PMCID: PMC3428435
Prime ME, Brookfield FA, Courtney SM, Gaines S, Marston RW, Ichihara O, Li M, Vaidya D, Williams H, Pedret-Dunn A, Reed L, Schaertl S, Toledo-Sherman L, Beconi M, Macdonald D, Munoz-Sanjuan I, Dominguez C, Wityak J
Irreversible 4-Aminopiperidine Transglutaminase 2 Inhibitors for Huntington`s Disease
ACS Med Chem Lett
September 13, 2012
3 (9) :731-5
PMID: 24900540
PMCID: PMC4025765
Parker JA, Vazquez-Manrique RP, Tourette C, Farina F, Offner N, Mukhopadhyay A, Orfila AM, Darbois A, Menet S, Tissenbaum HA, Neri C
Integration of β-catenin, sirtuin, and FOXO signaling protects from mutant huntingtin toxicity
J Neurosci
September 5, 2012
32 (36) :12630-40
PMID: 22956852
PMCID: 3780431
Smith MM, Mills JA, Epping EA, Westervelt HJ, Paulsen JS, PREDICT-HD Investigators of the Huntington Study Group
Depressive symptom severity is related to poorer cognitive performance in prodromal Huntington disease
Neuropsychology
September 1, 2012
6 (5) :664-9
PMID: 22846033
PMCID: 3806339
Scahill RI, Wild EJ, Tabrizi SJ
Biomarkers for Huntington`s disease: an update
Expert Opin Med Diagn
September 1, 2012
6 (5) :371-5
PMID: 23480802