Enroll-HD

Publications

Publications exploitant les données, les échantillons biologiques et/ou l'infrastructure Enroll-HD.

Publications

Enroll-HD est à la fois une étude observationnelle mondiale et une plateforme de recherche clinique soutenant diverses études et essais, avec pour objectif global d'accélérer le développement thérapeutique dans la MH. Les données cliniques et les échantillons biologiques collectés dans le cadre de l'étude Enroll-HD et d'autres études MH sont mis à la disposition de tout chercheur vérifié conformément à la plateforme Enroll-HD. Politique d’accès aux données cliniques et aux échantillons biologiques pour extraire le plus de connaissances possible. Comme toujours, nous sommes extrêmement reconnaissants envers les milliers de participants et de familles à travers le monde qui donnent de manière désintéressée leur temps et leur énergie, ainsi qu'au personnel dévoué des centres cliniques qui rendent Enroll-HD possible.

Lors de la publication de leurs résultats, les chercheurs utilisant ces données et échantillons biologiques doivent respecter la Politique de publication d'Enroll-HD, y compris la reconnaissance complète des personnes qui ont contribué à la collecte des données Enroll-HD. Les publications hébergées ici ont toutes utilisé les ensembles de données Enroll-HD qui sont périodiquement mis à disposition et illustrent certains des domaines de recherche sur la MH que Enroll-HD influence directement.

Si votre publication qui utilise les données Enroll-HD n'est pas incluse dans cette galerie, ou si vous connaissez une publication qui devrait être incluse, veuillez nous en informer à info@chdifoundation.org.

Authors

Title

Journal

Drew CJG, Quinn L, Hamana K, Williams-Thomas R, Marsh L, Dimitropoulou P, Playle R, Griffin BA, Kelson M, Schubert R, Muratori L, Reilmann R, Rosser A, Busse M

Physical activity and exercise outcomes in Huntington disease (PACE-HD): Protocol for a 12-month trial within cohort evaluation of a physical activity intervention in people with Huntington disease
Phys Ther
Sep 01, 2019
99 (9) :1201-1210
PMID: 31101920

Yomtoob J, Yeh C, Bega D

Ancillary service utilization and impact in Huntington's disease
J Huntingtons Dis
Août 28, 2019
8 (3) :301-310
PMID: 31177235

Li F, Li K, Li C, Luo S, PREDICT-HD and ENROLL-HD Investigators of the Huntington Study Group

Predicting the risk of Huntington's disease with multiple longitudinal biomarkers
J Huntingtons Dis
Août 27, 2019
8 (3) :323-332
PMID: 31256145
PMCID: 6718328

GeM-HD Consortium, Lee JM, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Abu Elneel K, Ramos EM, Mysore JS, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, McAllister B, Massey T, Medway C, Stone TC, Hall L, Jones L, Holmans P, Kwak S, Ehrhardt AG, Sampaio C, Ciosi M,…Myers RH

CAG repeat not polyglutamine length determines timing of Huntington's disease onset
Cell
Août 08, 2019
178 (4) :887-900
PMID: 31398342
PMCID: 6700281

Aubeeluck A, Stupple EJN, Schofield MB, Hughes AC, van der Meer L, Landwehrmeyer B, Ho AK

An international validation of a clinical tool to assess carers' quality of life in Huntington's disease
Front Psychol
Juil 23, 2019
10 :1658
PMID: 31402885
PMCID: 6676956

Zeitler B, Froelich S, Marlen K, Shivak DA, Yu Q, Li D, Pearl JR, Miller JC, Zhang L, Paschon DE, Hinkley SJ, Ankoudinova I, Lam S, Guschin D, Kopan L, Cherone JM, Nguyen HB, Qiao G, Ataei Y, Mendel MC, Amora R, Surosky R, Laganiere J, Vu BJ, Narayanan A, Sedaghat Y, Tillack K, Thiede C, Gärtner A, Kwak S, Bard J,…Zhang HS

Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease
Nat Med
Juil 01, 2019
25 (7) :1131-1142
PMID: 31263285

Bartoszek A, Aubeeluck A, Stupple E, Bartoszek A, Kocka K, Ślusarska B

Exploring the reliability and validity of the Huntington's disease quality of life battery for carers (HDQoL-C) within a polish population
Int J Environ Res Public Health
Juin 30, 2019
16 (13) :E2323
PMID: 31262100

Flower M, Lomeikaite V, Ciosi M, Cumming S, Morales F, Lo K, Hensman Moss D, Jones L, Holmans P, TRACK-HD Investigators, OPTIMISTIC Consortium, Monckton DG, Tabrizi SJ

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1
Brain
Juin 19, 2019
142 (7) :1876–1886
PMID: 31216018

Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, Blair NF, Craufurd D, Priller J, Rickards H, Rosser A, Kordasiewicz HB, Czech C, Swayze EE, Norris DA, Baumann T, Gerlach I, Schobel SA, Paz E, Smith AV, Bennett CF, Lane RM, Phase 1–2a IONIS-HTTRx Study Site Team

Targeting huntingtin expression in patients with Huntington's disease
N Engl J Med
Juin 13, 2019
380 (24) :2307-2316
PMID: 31059641

Shahn Z, Li Y, Sun Z, Mohan A, Sampaio C, Hu J

G-computation and hierarchical models for estimating multiple causal effects from observational disease registries with irregular visits
AMIA Jt Summits Transl Sci Proc
Mai 06, 2019
2019 :789-798
PMID: 31259036
PMCID: 6568089

Rojas NG, Ziliani JE, Cesarini ME, Etcheverry JL, Da Prat GA, McCusker E, Gatto EM

Late onset Huntington disease: phenotypic and genotypic characteristics of 10 cases in Argentina
J Huntingtons Dis
Avr 30, 2019
8 (2) :195-198
PMID: 31045517

Sun Z, Ghosh S, Li Y, Cheng Y, Mohan A, Sampaio C, Hu J

A probabilistic disease progression modeling approach and its application to integrated Huntington's disease observational data
JAMIA Open
Avr 01, 2019
2 (1) :123-130
PMID: 31984350
PMCID: 6951948

Goold R, Flower M, Moss DH, Medway C, Wood-Kaczmar A, Andre R, Farshim P, Bates GP, Holmans P, Jones L, Tabrizi SJ

FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat
Hum Mol Genet
Fév 15, 2019
28 (4) :650-661
PMID: 30358836
PMCID: 6360275

Yu M, Tan K, Koloms K, Bega D

Assessment of caregiver burden in Huntington's disease
J Huntingtons Dis
Fév 13, 2019
8 (1) :111-114
PMID: 30594932

Castaldo I, De Rosa M, Romano A, Zuchegna C, Squitieri F, Mechelli R, Peluso S, Borrelli C, Del Mondo A, Salvatore E, Vescovi LA, Migliore S, De Michele G, Ristori G, Romano S, Avvedimento EV, Porcellini A

DNA damage signatures in peripheral blood cells as biomarkers in prodromal Huntington disease
Ann Neurol
Fév 04, 2019
85 (2) :296-301
PMID: 30549309

Schultz JL, Nopoulos PC, Killoran A, Kamholz JA

Statin use and delayed onset of Huntington's disease
Mov Disord
Fév 01, 2019
34 (2) :281-285
PMID: 30576007

Scarabino D, Veneziano L, Peconi M, Frontali M, Mantuano E, Corbo RM

Leukocyte telomere shortening in Huntington's disease
J Neurol Sci
Jan 15, 2019
396 :25-29
PMID: 30396032

Gatto E, Parisi V, Persi G, Fernandez Rey E, Cesarini M, Luis Etcheverry J, Rivera P, Squitieri F

Optical coherence tomography (OCT) study in Argentinean Huntington's disease patients
Int J Neurosci
Déc 01, 2018
128 (12) :1157-1162
PMID: 29912591

Schultz JL, Kamholz JA, Nopoulos PC, Killoran A

Comparing Risperidone and Olanzapine to Tetrabenazine for the management of chorea in Huntington disease: An analysis from the Enroll-HD database
Mov Disord Clin Pract
Nov 30, 2018
6 (2) :132-138
PMID: 30838312
PMCID: 6384174

Watkins K, Purks J, Kumar A, Sokas RK, Heller H, Anderson KE

Huntington's disease and employment: The relative contributions of cognitive and motor decline to the decision to leave work
J Huntingtons Dis
Nov 24, 2018
7 (4) :367-377
PMID: 30198875

Long JD, Mills JA

Joint modeling of multivariate longitudinal data and survival data in several observational studies of Huntington's disease
BMC Med Res Methodol
Nov 16, 2018
18 (1) :138
PMID: 30445915
PMCID: 6240282

Rocha NP, Mwangi B, Gutierrez Candano CA, Sampaio C, Furr Stimming E, Teixeira AL

The clinical picture of psychosis in manifest Huntington's disease: a comprehensive analysis of the Enroll-HD database
Front Neurol
Nov 06, 2018
9 :930
PMID: 30459704
PMCID: 6232301

Honrath P, Dogan I, Wudarczyk O, Görlich KS, Votinov M, Werner CJ, Schumann B, Overbeck RT, Schulz JB, Landwehrmeyer BG, Gur RE, Habel U, Reetz K, Enroll-HD investigators

Risk factors of suicidal ideation in Huntington's disease: literature review and data from Enroll-HD
J Neurol
Nov 02, 2018
265 (11) :2548-2561
PMID: 30167880

Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, Gatto EM, Cesarini M, Etcheverry JL, Parisi V, Al-Oraimi M, Al-Harrasi S, Al-Salmi Q, Marano M, Vonsattel JG, Sabatini U, Landwehrmeyer GB, Squitieri F

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis
Lancet Neurol
Nov 01, 2018
17 (11) :986-993
PMID: 30243861

Barkhuizen M, Rodrigues FB, Anderson DG, Winkens B, REGISTRY Investigators of EHDN, Wild EJ, Kramer BW, Gavilanes AWD

Perinatal insults and neurodevelopmental disorders may impact Huntington's disease age of diagnosis
Parkinsonism Relat Disord
Oct 01, 2018
55 :55-60
PMID: 29804730
PMCID: 6226577

Schultz JL, Killoran A, Nopoulos PC, Chabal CC, Moser DJ, Kamholz JA

Evaluating depression and suicidality in tetrabenazine users with Huntington disease
Neurology
Juil 17, 2018
91 (3) :202-207
PMID: 29925548

Aziz NA, van der Burg JMM, Tabrizi SJ, Landwehrmeyer GB

Overlap between age-at-onset and disease-progression determinants in Huntington disease
Neurology
Juin 12, 2018
90 (24) :2099-2106
PMID: 29743208
PMCID: 5996832

Schultz JL, Nopoulos PC, Gonzalez-Alegre P

Human immunodeficiency virus infection in Huntington's disease is associated with an earlier age of symptom onset
J Huntingtons Dis
Juin 01, 2018
7 (2) :163-166
PMID: 29843248

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
Avr 16, 2018
:1635-1644
PMID: 29854234
PMCID: 5977625

Winder JY, Roos RAC

Premanifest Huntington's disease: Examination of oculomotor abnormalities in clinical practice
PLoS One
Mar 01, 2018
13 (3) :e0193866
PMID: 29494703
PMCID: 5832368

Kringlen G, Kinsley L, Aufox S, Rouleau G, Bega D

The impact of family history on the clinical features of Huntington's disease
J Huntingtons Dis
Déc 12, 2017
6 (4) :327-335
PMID: 28984613

van der Burg JMM, Gardiner SL, Ludolph AC, Landwehrmeyer GB, Roos RAC, Aziz NA

Body weight is a robust predictor of clinical progression in Huntington disease
Ann Neurol
Sep 01, 2017
82 (3) :479-483
PMID: 28779551

Ghosh S, Sun Z, Li Y, Cheng Y, Mohan A, Sampaio C, Hu J

An exploration of latent structure in observational Huntington's disease studies
AMIA Jt Summits Transl Sci Proc
Juil 26, 2017
2017 :92-102
PMID: 28815114
PMCID: 5543350

Walker T, Ghosh B, Kipps C

Assessing decline: visualising progression in Huntington's disease using a clinical dashboard with Enroll-HD data
J Huntingtons Dis
Juin 30, 2017
6 (2) :139-147
PMID: 28550266

Hervás D, Fornés-Ferrer V, Gómez-Escribano AP, Sequedo MD, Peiró C, Millán JM, Vázquez-Manrique RP

Metformin intake associates with better cognitive function in patients with Huntington's disease
PLoS One
Juin 20, 2017
12 (6) :e0179283
PMID: 28632780
PMCID: 5478119

Schultz JL, Kamholz JA, Moser DJ, Feely SM, Paulsen JS, Nopoulos PC

Substance abuse may hasten motor onset of Huntington disease: Evaluating the Enroll-HD database
Neurology
Fév 28, 2017
88 (9) :909-915
PMID: 28148631
PMCID: 5331869

Frich JC, Rae D, Roxburgh R, Miedzybrodzka ZH, Edmondson M, Pope EB, Goodman L, Haddad MS, Giuliano J, Nelson EC, Guttman M, Nance M

Health care delivery practices in Huntington's disease specialty clinics: an international survey
J Huntingtons Dis
Juil 01, 2016
5 (2) :207-213
PMID: 27372053
PMCID: 4942722

Landwehrmeyer GB, Fitzer-Attas CJ, Giuliano JD, Gonçalves N, Anderson KE, Cardoso F, Ferreira JJ, Mestre TA, Stout JC, Sampaio C

Data analytics from Enroll-HD, a global clinical research platform for Huntington's disease
Mov Disord Clin Pract
Juin 22, 2016
4 (2) :212-224
PMID: 30363395
PMCID: 6174428

Bettencourt C, Hensman-Moss D, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P, SPATAX Network, Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Ann Neurol
Juin 01, 2016
79 (6) :983-90
PMID: 27044000
PMCID: 4914895

McNally G, Rickards H, Horton M, Craufurd D

Exploring the validity of the short version of the Problem Behaviours Assessment (PBA-s) for Huntington's disease: a Rasch analysis
J Huntingtons Dis
Sep 01, 2015
4 (4) :347-69
PMID: 26756591
fr_FRFR

Plateforme de Recherche Clinique

Enroll-HD est une plateforme de recherche clinique et la plus grande étude observationnelle au monde sur les familles de la maladie de Huntington.

Pour les centres d'étude

À venir! Ressources opérationnelles pour les sites d’études, y compris l’accès au portail de formation.