Perfil del autor: Mir Rivera, Pablo
Datos institucionales
Nombre | Mir Rivera, Pablo |
Departamento | Medicina |
Área de conocimiento | Medicina |
Categoría profesional | Profesor Titular de Universidad (Pza. V) |
Correo electrónico | Solicitar |
Estadísticas
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Nº publicaciones
77
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Nº visitas
11334
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Nº descargas
15061
Publicaciones |
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Tesis Doctoral
Estudio de biomarcadores de neuroimagen multimodal implicados en la enfermedad de Parkinson
(2024)
Las discinesias inducidas por levodopa (DILs) y el deterioro cognitivo constituyen unas de las manifestaciones clínicas ... |
Tesis Doctoral
Estudio de la respuesta inmune periférica en la enfermedad de Parkinson
(2023)
Los mecanismos fisiopatológicos implicados de la enfermedad de Parkinson (EP) no se conocen por completo, pero la evidencia ... |
Artículo
Peripheral inflammatory immune response differs among sporadic and familial Parkinson’s disease
(Springer, 2023)
Peripheral inflammatory immune responses are thought to play a major role in the pathogenesis of Parkinson’s disease (PD). ... |
Artículo
Embracing monogenic Parkinson's disease: the MJFF global genetic PD cohort
(Wiley, 2023)
ABSTRACT: Background: As gene-targeted therapies are increasingly being developed for Parkinson’s disease (PD), identifying ... |
Artículo
Homocysteine levels, genetic background, and cognitive impairment in Parkinson’s disease
(Springer Nature, 2023)
Background: Hyperhomocysteinemia is considered an independent risk factor for cognitive impairment. Objective: To study ... |
Artículo
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome
(Nature Publishing Group, 2023)
Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a ... |
Artículo
Mendelian randomisation confirms the role of Y-chromosome loss in Alzheimer’s disease aetiopathogenesis in men
(MDPI, 2023)
Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with ... |
Artículo
Sex differences in motor and non-motor symptoms among Spanish patients with Parkinson’s disease
(MDPI, 2023)
Background and objective: Sex plays a role in Parkinson’s disease (PD) mechanisms. We analyzed sex difference manifestations ... |
Artículo
Falls predict acute hospitalization in Parkinson's disease
(IOS Press, 2023)
Background: There is a need for identifying risk factors for hospitalization in Parkinson’s disease (PD) and also ... |
Artículo
Corticospinal adaptations following resistance training and its relationship with strength: A systematic review and multivariate meta-analysis
(Elsevier, 2023)
Neural adaptations to resistance training (RT) and their correlation with muscle strength remain partially understood. We ... |
Artículo
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
(MDPI, 2022)
Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many ... |
Artículo
Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment
(Lippincott, Williams & Wilkins, 2022)
Background: Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease ... |
Tesis Doctoral
Estudio de la vía cerebelo-cortical en el síndrome de Tourette mediante estimulación magnética transcraneal
(2022)
El síndrome de Tourette (ST) es un trastorno del neurodesarrollo caracterizado por la presencia de tics motores y vocales ... |
Artículo
Transcriptomic analysis reveals an association of FCGBP with Parkinson’s disease
(Nature Research, 2022)
Transcriptomics in Parkinson’s disease (PD) offers new insights into the molecular mechanism of PD pathogenesis. Several ... |
Artículo
Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS) A worldwide platform for collaboration
(Frontiers Media, 2022)
Tourette syndrome (TS) is characterized by multiple motor and vocal tics, and high-comorbidity rates with other neuropsychiatric ... |
Tesis Doctoral
Estudio de factores genéticos y otros marcadores moleculares en la enfermedad de Parkinson
(2022)
La enfermedad de Parkinson (EP) es el segundo trastorno neurodegenerativo más común, que afecta al 2-3% de la población ... |
Tesis Doctoral
Biomarcadores séricos y riesgo vascular en la enfermedad de Parkinson esporádica y familiar
(2022)
La enfermedad de Parkinson (EP) es una enfermedad neurodegenerativa cuya etiopatogenia aún se desconoce en su totalidad. ... |
Artículo
Metabolite and lipoprotein profiles reveal sex-related oxidative stress imbalance in de novo drug-naive Parkinson’s disease patients
(SPRINGER, 2022)
Parkinson’s disease (PD) is the neurological disorder showing the greatest rise in prevalence from 1990 to 2016. Despite ... |
Artículo
Hair cortisol‑a stress marker in children and adolescents with chronic tic disorders? A large European cross‑sectional study
(Springer, 2022)
Background There is clear evidence that tic disorders (TDs) are associated with psychosocial stress as well as emotional ... |
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 ... |
Artículo
Motor Fluctuations Development Is Associated with Non-Motor Symptoms Burden Progression in Parkinson’s Disease Patients: A 2-Year Follow-Up Study
(MDPI, 2022)
Objective: The aim of the present study was to analyze the progression of non-motor symptoms (NMS) burden in Parkinson’s ... |
Artículo
MNCD: A New Tool for Classifying Parkinson’s Disease in Daily Clinical Practice
(MDPI, 2022)
Background and objective: Parkinson’s disease (PD) is a clinically heterogeneous disorder in which the symptoms and prognosis ... |
Artículo
Increased Stroke Risk in Patients with Parkinson’s Disease with LRRK2 Mutations
(WILEY, 2022)
Parkinson’s disease (PD) is associated with an increasedstroke risk, however, no relationship between coronary arterydisease ... |
Artículo
Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
(Nature Research, 2021)
Parkinson’s disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly ... |
Artículo
Identifying comorbidities and lifestyle factors contributing to the cognitive profile of early Parkinson’s disease
(BMC, 2021)
Background Identifying modifiable risk factors for cognitive impairment in the early stages of Parkinson’s disease (PD) ... |
Artículo
Clinical Practice Patterns in Tic Disorders Among Movement Disorder Society Members
(Ubiquity Press, 2021)
Background: Tic disorders belong to the broad spectrum of pediatric and adult movement disorders. The wide variability in ... |
Artículo
Predictors of Loss of Functional Independence in Parkinson’s Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up and Comparison with a Control Group
(MDPI, 2021)
Background and objective: The aim of this study was to compare the progression of independence in activities of daily ... |
Artículo
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
(Nature Research, 2021)
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders ... |
Artículo
Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients
(Nature Research, 2021)
A prodromal phase of Parkinson’s disease (PD) may precede motor manifestations by decades. PD patients’ siblings are at ... |
Artículo
Investigation of gene–environment interactions in relation to tic severit
(Springer, 2021)
Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investi ... |
Artículo
Present and Future of Parkinson’s Disease in Spain: PARKINSON-2030 Delphi Project
(MDPI, 2021)
Abstract: Parkinson’s disease (PD) is a chronic progressive and irreversible disease and the second most common neurodegenerative ... |
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)
Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, ... |
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)
Background and Objective: Non-motor symptoms (NMS) progress in different ways between Parkinson’s disease (PD) patients. ... |
Artículo
In vivo cholinergic basal forebrain degeneration and cognition in Parkinson's disease: Imaging results from the COPPADIS study
(Elsevier, 2021)
Introduction: We aimed to assess associations between multimodal neuroimaging measures of cholinergic basal forebrain (CBF) ... |
Artículo
Staging Parkinson’s disease combining motor and nonmotor symptoms correlates with disability and quality of life
(HINDAWI LTD, 2021)
In a degenerative disorder such as Parkinson’s disease (PD), it is important to establish clinical stages that allow to know ... |
Artículo
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
(Nature Research, 2021)
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage ... |
Artículo
Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España
(Elsevier, 2021)
Introducción Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos ... |
Artículo
Uso de la infusión intestinal continua de levodopa-carbidopa en pacientes con enfermedad de Parkinson avanzada en España. Subanálisis por comunidades autónomas
(Elsevier, 2021)
Objetivos: Comparar las características de los pacientes con enfermedad de Parkinson avan- zada en tratamiento con infusión ... |
Artículo
A European Observational Study to Evaluate the Safety and the Effectiveness of Safinamide in Routine Clinical Practice: The SYNAPSES Trial
(IOS Press, 2021)
Background: Safinamide modulates both dopaminergic and glutamatergic systems with positive effects on motor and non-motor ... |
Artículo
Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2
(Science Direct, 2021)
Introducción Muchas enfermedades que cursan con trastornos del movimiento hipercinético comienzan o afectan a mujeres en ... |
Artículo
Genomic characterization of host factors related to SARS-CoV-2 infection in people with dementia and control populations: the GR@ACE/DEGESCO study
(MDPI, 2021)
Emerging studies have suggested several chromosomal regions as potential host genetic factors involved in the susceptibility ... |
Artículo
Synaptic processes and immune-related pathways implicated in Tourette syndrome
(NATURE PUBLISHING GROUP, 2021)
Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. ... |
Artículo
Spinocerebellar ataxia type 8: First families detected in Spain
(Elsevier Doyma, 2021)
Introducción La ARCA1/SCAR8 es una heredoataxia recesiva causada por mutaciones en el gen SYNE1, que fue descrita inicialmente ... |
Artículo
Long runs of homozygosity are associated with Alzheimer’s disease
(Nature Publishing Group, 2021)
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and ... |
Artículo
Directional deep brain stimulation for Parkinson's disease: results of an international crossover study with randomized, double-blind primary endpoint
(Blackwell Publishing INC, 2021)
Objective: Published reports on directional deep brain stimulation (DBS) have been limited to small, single-center ... |
Artículo
Predictors of clinically significant quality of life impairment in Parkinson’s disease
(Springer, 2021)
Quality of life (QOL) plays an important role in independent living in Parkinson’s disease (PD) patients, being crucial ... |
Artículo
Diplopia is frequent and associated with motor and non-motor severity in Parkinson’s disease: results from the COPPADIS cohort at 2-year follow-up
(MDPI, 2021)
Background and objective: Diplopia is relatively common in Parkinson’s disease (PD) but is still understudied. Our aim was ... |
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 ... |
Artículo
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
(NATURE PUBLISHING GROUP, 2021)
ARTICLE Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores Genetic discoveries of ... |
Artículo
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
(2021)
The NR4A2/NURR1 gene (MIM*601828) has recently been associated with autosomal-dominant early-onset dystonia-parkinsonism ... |
Artículo
Consenso de expertos españoles sobre el uso de la safinamida en la enfermedad de Parkinson
(Science Direct, 2021)
La safinamida es un nuevo fármaco para el tratamiento de pacientes con enfermedad de Parkinson (EP) con fluctuaciones como ... |
Artículo
Levodopa-induced dyskinesia in Parkinson disease specifically associates with dopaminergic depletion in sensorimotor-related functional subregions of the striatum
(Lippincott, Williams & Wilkins, 2021)
Purpose: To determine whether the development of levodopa-induced dyskinesia (LID) in Parkinson disease (PD) specifically ... |
Artículo
Serum lipid profile among sporadic and familial forms of Parkinson's disease
(Springer, 2021)
Brain cholesterol metabolism has been described as altered in Parkinson’s disease (PD) patients. Serum lipid levels have ... |
Tesis Doctoral
Predictores pronósticos en los trastornos psicóticos agudos y transitorios
(2020)
En la Décima Revisión de la Clasificación Internacional de Enfermedades (CIE-10) se introdujo la categoría ' trastornos ... |
Artículo
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
(Nature publishing group, 2020)
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological ... |
Tesis Doctoral
Evaluación neuropsicológica y neurofisiológica en pacientes adultos con diabetes mellitus tipo 1
(2020)
Objetivos: Estudiar si existen evidencias de deterioro cognitivo en pacientes adultos con Diabetes Mellitus tipo 1 (DM1) ... |
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 ... |
Artículo
Non‑motor symptom burden in patients with parkinson’s disease with impulse control disorders and compulsive behaviours: results from the coppADiS cohort
(Springer Nature, 2020)
The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in ... |
Tesis Doctoral
Estudio de las bases genéticas implicadas en la enfermedad de Parkinson
(2019)
La enfermedad de Parkinson (EP) es la segunda enfermedad neurodegenerativa más común caracterizada por la degeneración de ... |
Artículo
Quantitative Intensity Harmonization of Dopamine Transporter SPECT Images Using Gamma Mixture Models
(Springer, 2018)
PURPOSE: Differences in site, device, and/or settings may cause large variations in the intensity profile of dopamine ... |
Artículo
European Multicentre Tics in Children Studies (EMTICS): protocol for two cohort studies to assess risk factors for tic onset and exacerbation in children and adolescents
(Springer Berlin Heidelberg, 2018)
Genetic predisposition, autoimmunity and environmental factors [e.g. pre- and perinatal difficulties, Group A Streptococcal ... |
Artículo
Consenso de expertos españoles sobre el uso de la safinamida en la enfermedad de Parkinson
(Elsevier, 2018)
La safinamida es un nuevo fármaco para el tratamiento de pacientes con enfermedad de Parkinson (EP) con fluctuaciones como ... |
Tesis Doctoral
Clinical correlates and advanced processing of the dopamine transporter spect - applications in parkinsonism
(2017)
La visualización del transportador de dopamina (DAT) a través del SPECT con [123I]FP-CIT es una prueba de imagen ampliamente ... |
Tesis Doctoral
Estudio mediante estimulación magnética transcraneal del cerebelo y de la corteza parietal posterior en la distonia primaria cervical
(2017)
III. OBJETIVOS DEL ESTUDIO OBJETIVOS GENERALES En los pacientes con distonía primaria cervical conocer el funcionamiento ... |
Artículo
Consensus on the Definition of Advanced Parkinson's Disease: A Neurologists-Based Delphi Study (CEPA Study)
(Hindawi, 2017)
To date, no consensus exists on the key factors for diagnosing advanced Parkinson disease (APD). To obtain consensus on ... |
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 ... |
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 ... |
Artículo
GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease.
(Public Library Of Science, 2016)
The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson’s ... |
Artículo
The social impact of Parkinson’s disease in Spain: Report by the Spanish Foundation for the Brain
(Elsevier, 2016)
Introduction: Understanding the social and economic impact of Parkinson’s disease is essential for resource planning and ... |
Artículo
Trait- and state-dependent cortical inhibitory deficits in bipolar disorder
(Wiley, 2016)
Objectives Euthymic patients with bipolar disorder (BD) have deficits in cortical inhibition. However, whether cortical ... |
Tesis Doctoral
Características clínicas, neurofisiológicas y de imagen con SPECT I123-FP-CIT en el parkinsonismo vascular
(2015)
La definición actual de parkinsonismo vascular (PV) es la aparición de signos parkinsonianos (definido por la presencia ... |
Artículo
Aberrant cortical associative plasticity associated with severe adult Tourette syndrome
(Wiley, 2015)
Background. Recent studies have shown altered cortical plasticity in adult patients with Tourette syndrome. However, the ... |
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 ... |
Tesis Doctoral
Estudio del papel del cerebelo en la enfermedad de Parkinson mediante estimulación magnética transcraneal
(2014)
Se han descrito cambios funcionales en la activación del cerebelo en la enfermedad de Parkinson (EP) mediante diferentes ... |
Artículo
Effects of Two Weeks of Cerebellar Theta Burst Stimulation in Cervical Dystonia Patients
(Elsevier, 2014)
Dystonia is generally regarded as a disorder of the basal ganglia and their efferent connections to the thalamus and ... |
Artículo
Parieto-motor Cortical Dysfunction in Primary Cervical Dystonia
(Elsevier, 2014)
Background: Dystonia is considered as a motor network disorder involving the dysfunction of the posterior parietal cortex, ... |
Tesis Doctoral
Estudio mediante estimulación magnética transcraneal de las cortezas somatosensorial primaria y parietal posterior en la enfermedad de Parkinson
(2012)
La enfermedad de parkinson (ep) es la segunda enfermedad neurodegenerativa más frecuente detrás de la enfermedad de ... |