Enroll-HD
Publicaciones
Publicaciones que aprovechan datos, muestras biológicas y/o infraestructura del Enroll-HD.
Publicaciones
Enroll-HD es a la vez un estudio observacional mundial y una plataforma de investigación clínica que respalda varios estudios y ensayos, con el objetivo general de acelerar el desarrollo terapéutico de la EH. Los datos clínicos y las muestras biológicas recopilados en Enroll-HD y otros estudios de HD están disponibles a través de la plataforma Enroll-HD para cualquier investigador verificado según la Política de acceso a datos clínicos y muestras biológicas para extraer el mayor conocimiento posible. Como siempre, estamos enormemente agradecidos a los miles de participantes y familias de todo el mundo que dan desinteresadamente su tiempo y energía, así como al dedicado personal de los centros clínicos que hacen posible el Enroll-HD.
Al publicar sus hallazgos, se espera que los investigadores que utilicen estos datos y muestras biológicas respeten las Política de publicación Enroll-HD, incluido el reconocimiento total de las personas que contribuyeron a la recopilación de datos del Enroll-HD. Todas las publicaciones alojadas aquí han utilizado los conjuntos de datos de Enroll-HD que se ponen a disposición periódicamente e ilustran algunas de las áreas de investigación de la EH en las que Enroll-HD está influyendo directamente.
Si su publicación que utiliza datos Enroll-HD no está incluida en esta galería, o si conoce una publicación que debería incluirse, háganoslo saber en info@chdifoundation.org.
Title
Journal
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease highlight shared and tissue-specific effects
Stimming EF, Claassen DO, Sen GP, Klepitskaya O, Serbin M, Kim H, Hinton SC, Haubenberger D
Longitudinal treatment patterns of chorea in North American patients with Huntington's disease: Data from Enroll-HD
Boareto M, Yamamoto Y, Long JD, Sampaio C, McColgan P, Diack C, Ducray PS
Modeling disease progression and placebo response in Huntington disease: Insights from Enroll-HD and GENERATION HD1 cohorts
Bakels HS, van der Zwaan KF, Van Zwet E, Reijntjes R, Sprenger GP, Knecht TA, Roos RAC, de Bot ST
Comparison of the clinical spectrum of juvenile- and adult-onset Huntington disease: A national cohort and Enroll-HD observational study
Geva M, Goldberg YP, Schuring H, Tan AM, Long JD, Hayden MR
Antidopaminergic medications and clinical changes in measures of Huntington's disease: A causal analysis
Halabi N, Killoran A, Nopoulos PC, Schultz JL
Differentiating hyperkinetic and hypokinetic motor features in the progression of Huntington's disease
Gil-Salcedo A, Lunven M, Jacquemot C, Massart R, Bachoud-Levi AC
Specific contribution of cognitive and motor impairments with functional capacity and dependence in Huntington's disease
van der Zwaan KF, Feleus S, Dekkers OM, Roos RAC, de Bot ST
Total functioning capacity scale in Huntington's disease: natural course over time
Feleus S, Vo MTD, Kuijper LCM, Roos RAC, de Bot ST
Cognitive impairment predicts medication discrepancies in Huntington's disease: patient self-report compared to pharmacy records
Schultz JL, Ogilvie AC, Harshman LA, Nopoulos PC
β-blocker use and delayed onset and progression of Huntington disease
Feleus S, Skotnicki LEM, Roos RAC, de Bot ST
Medication use and treatment indications in Huntington's disease; analyses from a large cohort
Khetarpal V, Herbst T, Dominguez C, Munoz-Sanjuan I, Sampaio C, Marks B, Miller D, Farnham J, Ledvina A, Anglehart H, Rehmani I, LaFayette A, Spridco N, Langbehn D, Wild EJ, Pacifici R
Lack of evidence for kynurenine pathway dysfunction in Huntington’s disease: Cerebrospinal fluid and plasma analyses from the HDClarity study
Funcis A, Ravera B, Zinzi P, Solito M, Petracca M, Calabresi P, Bentivoglio AR
Neuroleptic malignant syndrome in Huntington disease
Pollard A, Greetham D, Myatt J, Rickards H, Stanley C, Dungate D
Data-driven Huntington's disease progression modelling and estimation of societal cost in the UK
Yao J, Feng B S G, Shao M S G, Mendizabal A, Telesca D, Fang K, Ibragimova L, Shoaib J, Morrison MA, Lupo JM
Interplay between sex and disease burden in Huntington's disease: Clinical and neuroimaging perspectives
Gray SM, Dai J, Smith AC, Beckley JT, Rahmati N, Lewis MC, Quirk MC
Changes in 24(S)-hydroxycholesterol are associated with cognitive performance in early Huntington's disease: Data from the TRACK and ENROLL HD cohorts
Di Cecca A, Ilardi CR, Della Pia F, Criscuolo C, Della Sala S, Salvatore E
Distortion errors characterise visuo-constructive performance in Huntington's disease
Mendizabal A, Ogilvie AC, Bordelon Y, Perlman SL, Brown A
Racial disparities in time to Huntington disease diagnosis in North America: An Enroll-HD analysis
Mills JA, Long JD, Vaidya JG, Gantman EC, Sathe S, Tabrizi SJ, Sampaio C
Time to functional loss as an endpoint in Huntington's disease trials: Enrichment and sample size
Guzauskas GF, Tabrizi SJ, Long JD, Arnesen A, Hamilton JL, Claassen DO, Munetsi LR, Malik S, Rodríguez-Santana I, Ali TM, Zhang F
Long-term health outcomes of Huntington disease and the impact of future disease-modifying treatments: A decision-modeling analysis
Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, ...Wolf NI
Framework for multistakeholder patient registries in the field of rare diseases: Focus on neurogenetic diseases
Bakels HS, Feleus S, Rodríguez-Girondo M, Losekoot M, Bijlsma EK, Roos RAC, de Bot ST
Prevalence of juvenile-onset and pediatric Huntington's disease and their availability and ability to participate in trials: A Dutch population and Enroll-HD observational study
Ioakeimidis V, Busse M, Drew CJG, Pallmann P, Watson GB, Jones D, Palombo M, Schubert R, Rosser AE, Metzler-Baddeley C
Protocol for a randomised controlled unblinded feasibility trial of HD-DRUM: a rhythmic movement training application for cognitive and motor symptoms in people with Huntington's disease
Ruiz de Sabando A, Ciosi M, Galbete A, Cumming SA, Spanish HD Collaborative Group, Monckton DG, Ramos-Arroyo MA
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype
Gil-Salcedo A, Massart R, de Langavant LC, Bachoud-Levi AC
Modifiable factors associated with Huntington's disease progression in presymptomatic participants
Ann Clin Transl Neurol
Jul 01, 2024
11 (7) :1930-1941
11 (7) :1930-1941
PMID: 38855890
PMCID: 11251488
DOI: 10.1002/acn3.52120
Sprenger GP, van Zwet EW, Bakels HS, Achterberg WP, Roos RA, de Bot ST
Prevalence and burden of pain across the entire spectrum of Huntington's disease
J Neurol Neurosurg Psychiatry
Jun 17, 2024
95 (7) :647-655
95 (7) :647-655
PMID: 38290837
Delussi M, Valt C, Silvestri A, Ricci K, Ladisa E, Ammendola E, Rampino A, Pergola G, de Tommaso M
Auditory mismatch negativity in pre-manifest and manifest Huntington's disease
Lozano-Garcia M, Doheny EP, Mann E, Morgan-Jones P, Drew C, Busse-Morris M, Lowery MM
Estimation of gait parameters in Huntington's disease using wearable sensors in the clinic and free-living conditions
Raschka T, Li Z, Gaßner H, Kohl Z, Jukic J, Marxreiter F, Fröhlich H
Unraveling progression subtypes in people with Huntington's disease
Fahed VS, Doheny EP, Collazo C, Krzysztofik J, Mann E, Morgan-Jones P, Mills L, Drew C, Rosser AE, Cousins R, Witkowski G, Cubo E, Busse M, Lowery MM
Language-independent acoustic biomarkers for quantifying speech impairment in Huntington's disease
Migliore S, Bianco SD, Scocchia M, Maffi S, Busi LC, Ceccarelli C, Curcio G, Mazza T, Squitieri F
Prodromal cognitive changes as a prognostic indicator of forthcoming Huntington's disease severity: A retrospective longitudinal study
Mov Disord Clin Pract
Abr 02, 2024
11 (4) :363-372
11 (4) :363-372
PMID: 38264920
PMCID: 10982604
DOI: 10.1002/mdc3.13975
Knights H, Coleman A, Hobbs NZ, Tabrizi SJ, Scahill RI, HD-YAS investigators
Freesurfer software update significantly impacts striatal volumes in the Huntington's disease young adult study and will influence HD-ISS staging
Pfalzer AC, Shiino S, Silverman J, Codreanu SG, Sherrod SD, McLean JA, Claassen DO
Alterations in cerebrospinal fluid urea occur in late manifest Huntington's disease
Gaudet ID, Xu H, Gordon E, Cannestro GA, Lu ML, Wei J
Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington's disease
Sun Z, Ware J, Dey S, Eyigoz E, Sathe S, Sampaio C, Hu J
Large-scale screening of clinical assessments to distinguish between states in the Integrated HD Progression Model (IHDPM)
Nopoulos S, Reasoner EE, Ogilvie AC, Killoran A, Schultz JL
Evaluating motor progression of juvenile-onset Huntington's Disease: An Enroll-HD analysis
Parkinsonism Relat Disord
Feb 01, 2024
119 (105954)
119 (105954)
PMID: 38142629
Achenbach J, Stodt B, Saft C
Factors influencing the total functional capacity score as a critical endpoint in Huntington's disease research
Jeyakumar N, Hilmer SN, Teixeira-Pinto A, Loy CT
Frailty and associated environmental factors only have small effects on age of onset in Huntington's disease
Mendizabal A, Singh AP, Perlman S, Brown A, Bordelon Y
Disparities in Huntington disease severity: Analysis using the ENROLL-HD dataset
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