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Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease: a comparison of assessment instruments.
Horta-Barba A, Martinez-Horta S, Pérez-Pérez J, Puig-Davi A, de Lucia N, de Michele G, Salvatore E, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Júlio F, Januário C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Wallner R, Nuzzi A, Pagonabarraga J, Kulisevsky J; Cognitive Phenotype Working Group of the European Huntington’s Disease Network. Horta-Barba A, et al. Among authors: martinez descals a. J Neurol. 2023 Nov;270(11):5408-5417. doi: 10.1007/s00415-023-11804-0. Epub 2023 Jul 18. J Neurol. 2023. PMID: 37462754 Free PMC article.
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
Utility of the Parkinson's disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington's disease.
Martinez-Horta S, Horta-Barba A, Perez-Perez J, Sampedro F, de Lucia N, De Michele G, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Garcia-Ruiz P, Júlio F, Januário C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Nuzzi A, Pagonabarraga J, Kulisevsky J; Cognitive Phenotype Working Group of the European Huntington’s Disease Network. Martinez-Horta S, et al. Among authors: martinez descals a. J Neurol. 2020 May;267(5):1527-1535. doi: 10.1007/s00415-020-09730-6. Epub 2020 Feb 7. J Neurol. 2020. PMID: 32030521
Correction to: Utility of the Parkinson's disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington's disease.
Martinez-Horta S, Horta-Barba A, Perez-Perez J, Sampedro F, de Lucia N, De Michele G, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Garcia-Ruiz P, Júlio F, Januário C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Nuzzi A, Pagonabarraga J, Kulisevsky J; Cognitive Phenotype Working Group of the European Huntington’s Disease Network. Martinez-Horta S, et al. Among authors: martinez descals a. J Neurol. 2021 Feb;268(2):740. doi: 10.1007/s00415-020-10305-8. J Neurol. 2021. PMID: 33399970 No abstract available.
Arithmetic Word-Problem Solving as Cognitive Marker of Progression in Pre-Manifest and Manifest Huntington's Disease.
Horta-Barba A, Martinez-Horta S, Perez-Perez J, Sampedro F, de Lucia N, De Michele G, Salvatore E, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Júlio F, Janurio C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Wallner R, Nuzzi A, Pagonabarraga J, Kulisevsky J; on behalf the Cognitive Phenotype Working Group of the European Huntington’s Disease Network. Horta-Barba A, et al. Among authors: martinez descals a. J Huntingtons Dis. 2021;10(4):459-468. doi: 10.3233/JHD-210480. J Huntingtons Dis. 2021. PMID: 34602494
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. Lee JM, et al. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
20 results