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Artículo
Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients
(Nature Publishing Group, 2022)
Advanced age represents one of the major risk factors for Parkinson’s Disease. Recent biomedical studies posit a role for microRNAs, also known to be remodelled during ageing. However, the relationship between microRNA ...
Artículo
Genetic factors influencing frontostriatal dysfunction and the development of dementia in Parkinson's disease
(Public Library of Science, 2017)
The dual syndrome hypothesis for cognitive impairment in Parkinson's disease (PD) establishes a dichotomy between a frontrostriatal dopamine-mediated syndrome, which leads to executive deficits, and a posterior cortical ...
Artículo
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
(MDPI, 2022-12-08)
Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are ...
Artículo
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders Data from the iNTD registry
(Spinger, 2021-07-09)
Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed ...
Artículo
Tremor stability index: a new tool for differential diagnosis in tremor syndromes
(Oxford University Press, 2017)
Misdiagnosis among tremor syndromes is common, and can impact on both clinical care and research. To date no validated neurophysiological technique is available that has proven to have good classification performance, and ...
Artículo
A genetic analysis of a Spanish population with early onset Parkinson’s disease
(Public Library Science, 2020)
Introduction Both recessive and dominant genetic forms of Parkinson’s disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson’s ...
Artículo
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
(Nature Research, 2021-09-20)
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep ...
Artículo
Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: Parte 1
(Science Direct, 2021)
Introducción El manejo de la enfermedad de Parkinson en la mujer en edad fértil nos plantea como principal reto el manejo de la enfermedad y los fármacos durante el embarazo y lactancia. El aumento de la edad gestacional ...
Artículo
Machine learning models for the differential diagnosis of vascular parkinsonism and Parkinson's disease using [(123)I]FP-CIT SPECT
(Springer, 2015)
Purpose: The study’s objective was to develop diagnostic predictive models using data from two commonly used [(123)I]FP-CIT SPECT assessment methods: region-of-interest (ROI) analysis and whole-brain voxel-based analysis. ...
Artículo
Predictors of global non-motor symptoms burden progression in Parkinson’s disease. Results from the COPPADIS cohort at 2-year follow-up
(MDPI, 2021-06-30)
Background and Objective: Non-motor symptoms (NMS) progress in different ways between Parkinson’s disease (PD) patients. The aim of the present study was to (1) analyze the change in global NMS burden in a PD cohort after ...