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Age of Alzheimer's disease diagnosis in people with Down syndrome and associated factors: Results from the Horizon 21 European Down syndrome consortium.
Alzheimers Dement. 2024 May;20(5):3270-3280. doi: 10.1002/alz.13779. Epub 2024 Mar 20.
Alzheimers Dement. 2024.
PMID: 38506627
RESULTS: Mean ages of AD diagnosis ranged between 51.4 (SD 7.0) years (United Kingdom) and 55.6 (SD 6.8) years (France). Sleep-related and mental health problems were associated with earlier age of AD diagnosis. The higher number of co-occurring conditions the more …
RESULTS: Mean ages of AD diagnosis ranged between 51.4 (SD 7.0) years (United Kingdom) and 55.6 (SD 6.8) years (France). Sleep-relate …
Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study.
Carmona-Iragui M, Alcolea D, Barroeta I, Videla L, Muñoz L, Van Pelt KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare ICH, Holland AJ, Nübling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleó A, Fortea J.
Carmona-Iragui M, et al.
Lancet Neurol. 2021 Aug;20(8):605-614. doi: 10.1016/S1474-4422(21)00129-0.
Lancet Neurol. 2021.
PMID: 34302785
Free PMC article.
METHODS: We did a multicentre cohort study, including adults with Down syndrome (18 years), recruited from six hospitals and university medical centres in France, Germany, Spain, the UK, and the USA, who had been assessed, followed up, and provided at least two plasma samp …
METHODS: We did a multicentre cohort study, including adults with Down syndrome (18 years), recruited from six hospitals and university medi …
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Treatment with the Bacterial Toxin CNF1 Selectively Rescues Cognitive and Brain Mitochondrial Deficits in a Female Mouse Model of Rett Syndrome Carrying a MeCP2-Null Mutation.
Urbinati C, Cosentino L, Germinario EAP, Valenti D, Vigli D, Ricceri L, Laviola G, Fiorentini C, Vacca RA, Fabbri A, De Filippis B.
Urbinati C, et al.
Int J Mol Sci. 2021 Jun 23;22(13):6739. doi: 10.3390/ijms22136739.
Int J Mol Sci. 2021.
PMID: 34201747
Free PMC article.
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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC.
Fergelot P, et al.
Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20.
Am J Med Genet A. 2016.
PMID: 27648933
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8-10% of clinically diag …
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual di …
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Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial.
de la Torre R, de Sola S, Hernandez G, Farré M, Pujol J, Rodriguez J, Espadaler JM, Langohr K, Cuenca-Royo A, Principe A, Xicota L, Janel N, Catuara-Solarz S, Sanchez-Benavides G, Bléhaut H, Dueñas-Espín I, Del Hoyo L, Benejam B, Blanco-Hinojo L, Videla S, Fitó M, Delabar JM, Dierssen M; TESDAD study group.
de la Torre R, et al.
Lancet Neurol. 2016 Jul;15(8):801-810. doi: 10.1016/S1474-4422(16)30034-5.
Lancet Neurol. 2016.
PMID: 27302362
Clinical Trial.
We followed up participants for 6 months after treatment discontinuation. We randomly assigned participants using random-number tables and balanced allocation by sex and intellectual quotient. ...Phase 3 trials with a larger population of individuals with Down's syndrome w …
We followed up participants for 6 months after treatment discontinuation. We randomly assigned participants using random-number table …
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