Lista de obras -

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

artículo científico publicado en 2003

A panel of biomarkers including caspase-3 and D-dimer may differentiate acute stroke from stroke-mimicking conditions in the emergency department

artículo científico publicado en 2010

A parsimonious score with a free web tool for predicting disability after an ischemic stroke: the Parsifal Score

scientific article published on 26 May 2020

ACE variants and risk of intracerebral hemorrhage recurrence in amyloid angiopathy

artículo científico publicado en 2010

An Inflammatory Polymorphisms Risk Scoring System for the Differentiation of Ischemic Stroke Subtypes

artículo científico publicado en 2015

Association of a genetic variant in the ALOX5AP with higher risk of ischemic stroke: a case-control, meta-analysis and functional study

artículo científico publicado en 2010

Automated quantification of cerebral edema following hemispheric infarction: Application of a machine-learning algorithm to evaluate CSF shifts on serial head CTs.

scientific article published on 26 September 2016

Biological age is better than chronological as predictor of 3-month outcome in ischemic stroke

artículo científico publicado en 2017

Blood biomarkers in cardioembolic stroke. ⬇️

artículo científico publicado en 2010

Burden of risk alleles for hypertension increases risk of intracerebral hemorrhage

artículo científico publicado en 2012

C-reactive protein gene C1444T polymorphism and risk of recurrent ischemic events in patients with symptomatic intracranial atherostenoses.

artículo científico publicado en 2009

COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls

artículo científico publicado en 2017

Cardioembolic stroke diagnosis using blood biomarkers

artículo científico publicado en 2013

Caspase-3 is related to infarct growth after human ischemic stroke

artículo científico publicado en 2007

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

artículo científico publicado en 2014

DNA methylation levels are highly correlated between pooled samples and averaged values when analysed using the Infinium HumanMethylation450 BeadChip array.

artículo científico publicado en 2015

Differentiating ischemic from hemorrhagic stroke using plasma biomarkers: the S100B/RAGE pathway.

artículo científico publicado en 2012

Drug resistance and secondary treatment of ischaemic stroke: The genetic component of the response to acetylsalicylic acid and clopidogrel.

artículo científico

Endogenous activated protein C predicts hemorrhagic transformation and mortality after tissue plasminogen activator treatment in stroke patients.

artículo científico publicado en 2009

Exome Sequencing and Clot Lysis Experiments Demonstrate the R458C Mutation of the Alpha Chain of Fibrinogen to be Associated with Impaired Fibrinolysis in a Family with Thrombophilia

scientific article published on 17 November 2015

Exploring the genetic basis of stroke. Spanish stroke genetics consortium.

artículo científico

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

artículo científico publicado en 2008

GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence After Stroke

artículo científico publicado en 2017

Genes involved in hemorrhagic transformations that follow recombinant t-PA treatment in stroke patients

artículo científico publicado en 2013

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

artículo científico publicado en 2012

Genetic variants in CETP increase risk of intracerebral hemorrhage

artículo científico publicado en 2016

Genetic variants influencing elevated myeloperoxidase levels increase risk of stroke

artículo científico publicado en 2017

Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage

scientific article published on 11 April 2020

Genetics of stroke: a review of recent advances.

artículo científico publicado en 2008

Genome-Wide Association Study of White Blood Cell Counts in Patients With Ischemic Stroke

artículo científico publicado en 2019

Global DNA methylation of ischemic stroke subtypes.

artículo científico publicado en 2014

Heritability estimates identify a substantial genetic contribution to risk and outcome of intracerebral hemorrhage

artículo científico publicado en 2013

IL1B and VWF variants are associated with fibrinolytic early recanalization in patients with ischemic stroke.

artículo científico publicado en 2012

Increased brain expression of matrix metalloproteinase-9 after ischemic and hemorrhagic human stroke.

artículo científico publicado en 2006

Influence of thrombin-activatable fibrinolysis inhibitor and plasminogen activator inhibitor-1 gene polymorphisms on tissue-type plasminogen activator-induced recanalization in ischemic stroke patients

artículo científico publicado en 2007

Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage

article by Sandro Marini et al published July 2018 in Stroke Journal

KCNK17 genetic variants in ischemic stroke.

artículo científico publicado en 2009

Leukoaraiosis is associated with genes regulating blood-brain barrier homeostasis in ischaemic stroke patients

artículo científico publicado en 2010

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

artículo científico publicado en 2013

Lower concentrations of thrombin-antithrombin complex (TAT) correlate to higher recanalisation rates among ischaemic stroke patients treated with t-PA

article

Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage

artículo científico publicado en 2014

Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations

artículo científico publicado en 2014

Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke

artículo científico publicado en 2020

NURR1 involvement in recombinant tissue-type plasminogen activator treatment complications after ischemic stroke.

artículo científico publicado en 2014

No association of ALOX5AP polymorphisms with risk of MRI-defined brain infarcts.

artículo científico publicado en 2011

No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy

scientific article published on 04 April 2011

Novel mutation in the PYGM gene resulting in McArdle disease.

artículo científico publicado en 2006

Osteopontin predicts long-term functional outcome among ischemic stroke patients

artículo científico publicado en 2010

Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors.

artículo científico publicado en 2019

PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome

artículo científico publicado en 2019

PPM1A Methylation Is Associated With Vascular Recurrence in Aspirin-Treated Patients.

artículo científico publicado en 2016

Plasma d-dimer predicts poor outcome after acute intracerebral hemorrhage.

artículo científico publicado en 2006

Platelet function testing in transient ischaemic attack and ischaemic stroke: A comprehensive systematic review of the literature.

artículo científico

Poststroke C-reactive protein is a powerful prognostic tool among candidates for thrombolysis

artículo científico publicado en 2006

Progression of symptomatic intracranial large artery atherosclerosis is associated with a proinflammatory state and impaired fibrinolysis

scientific article published on 06 March 2008

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

artículo científico publicado en 2019

RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis

artículo científico publicado en 2021

Recommendations from the international stroke genetics consortium, part 1: standardized phenotypic data collection

artículo científico publicado en 2014

Recommendations from the international stroke genetics consortium, part 2: biological sample collection and storage

artículo científico publicado en 2015

Role of TRAF3 in neurological and cardiovascular diseases: an overview of recent studies.

artículo científico publicado en 2017

Role of endogenous granulocyte-macrophage colony stimulating factor following stroke and relationship to neurological outcome.

artículo científico publicado en 2009

Role of the MMP9 gene in hemorrhagic transformations after tissue-type plasminogen activator treatment in stroke patients

scientific article published on 10 April 2012

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

artículo científico publicado en 2003

Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation

artículo científico publicado en 2010

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL

artículo científico publicado en 2017

TRAF3 Epigenetic Regulation Is Associated With Vascular Recurrence in Patients With Ischemic Stroke.

artículo científico publicado en 2016

TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

artículo científico publicado en 2012

The association of the 4q25 susceptibility variant for atrial fibrillation with stroke is limited to stroke of cardioembolic etiology

artículo científico publicado en 2010

Tissue plasminogen activator (t-PA) promotes neutrophil degranulation and MMP-9 release.

artículo científico publicado en 2008

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.

artículo científico publicado en 2003

Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA

scientific article published on 31 July 2019

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.

artículo científico publicado en 2005

Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.

artículo científico publicado en 2016

[ApoE genotype influences on efficacy and safety of thrombolytic treatment for ischemic stroke]

artículo científico publicado en 2006

[Neurological manifestations of Fabry disease]

artículo científico publicado en 2006

[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent]

scientific article published on 01 September 2007

Lista de obras de

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

A panel of biomarkers including caspase-3 and D-dimer may differentiate acute stroke from stroke-mimicking conditions in the emergency department

A parsimonious score with a free web tool for predicting disability after an ischemic stroke: the Parsifal Score

ACE variants and risk of intracerebral hemorrhage recurrence in amyloid angiopathy

An Inflammatory Polymorphisms Risk Scoring System for the Differentiation of Ischemic Stroke Subtypes

Association of a genetic variant in the ALOX5AP with higher risk of ischemic stroke: a case-control, meta-analysis and functional study

Automated quantification of cerebral edema following hemispheric infarction: Application of a machine-learning algorithm to evaluate CSF shifts on serial head CTs.

Biological age is better than chronological as predictor of 3-month outcome in ischemic stroke

Blood biomarkers in cardioembolic stroke. ⬇️

Burden of risk alleles for hypertension increases risk of intracerebral hemorrhage

C-reactive protein gene C1444T polymorphism and risk of recurrent ischemic events in patients with symptomatic intracranial atherostenoses.

COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls

Cardioembolic stroke diagnosis using blood biomarkers

Caspase-3 is related to infarct growth after human ischemic stroke

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

DNA methylation levels are highly correlated between pooled samples and averaged values when analysed using the Infinium HumanMethylation450 BeadChip array.

Differentiating ischemic from hemorrhagic stroke using plasma biomarkers: the S100B/RAGE pathway.

Drug resistance and secondary treatment of ischaemic stroke: The genetic component of the response to acetylsalicylic acid and clopidogrel.

Endogenous activated protein C predicts hemorrhagic transformation and mortality after tissue plasminogen activator treatment in stroke patients.

Exome Sequencing and Clot Lysis Experiments Demonstrate the R458C Mutation of the Alpha Chain of Fibrinogen to be Associated with Impaired Fibrinolysis in a Family with Thrombophilia

Exploring the genetic basis of stroke. Spanish stroke genetics consortium.

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence After Stroke

Genes involved in hemorrhagic transformations that follow recombinant t-PA treatment in stroke patients

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

Genetic variants in CETP increase risk of intracerebral hemorrhage

Genetic variants influencing elevated myeloperoxidase levels increase risk of stroke

Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage

Genetics of stroke: a review of recent advances.

Genome-Wide Association Study of White Blood Cell Counts in Patients With Ischemic Stroke

Global DNA methylation of ischemic stroke subtypes.

Heritability estimates identify a substantial genetic contribution to risk and outcome of intracerebral hemorrhage

IL1B and VWF variants are associated with fibrinolytic early recanalization in patients with ischemic stroke.

Increased brain expression of matrix metalloproteinase-9 after ischemic and hemorrhagic human stroke.

Influence of thrombin-activatable fibrinolysis inhibitor and plasminogen activator inhibitor-1 gene polymorphisms on tissue-type plasminogen activator-induced recanalization in ischemic stroke patients

Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage

KCNK17 genetic variants in ischemic stroke.

Leukoaraiosis is associated with genes regulating blood-brain barrier homeostasis in ischaemic stroke patients

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Lower concentrations of thrombin-antithrombin complex (TAT) correlate to higher recanalisation rates among ischaemic stroke patients treated with t-PA

Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage

Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations

Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke

NURR1 involvement in recombinant tissue-type plasminogen activator treatment complications after ischemic stroke.

No association of ALOX5AP polymorphisms with risk of MRI-defined brain infarcts.

No evidence of APP point mutation and locus duplication in individuals with cerebral amyloid angiopathy

Novel mutation in the PYGM gene resulting in McArdle disease.

Osteopontin predicts long-term functional outcome among ischemic stroke patients

Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors.

PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome

PPM1A Methylation Is Associated With Vascular Recurrence in Aspirin-Treated Patients.

Plasma d-dimer predicts poor outcome after acute intracerebral hemorrhage.

Platelet function testing in transient ischaemic attack and ischaemic stroke: A comprehensive systematic review of the literature.

Poststroke C-reactive protein is a powerful prognostic tool among candidates for thrombolysis

Progression of symptomatic intracranial large artery atherosclerosis is associated with a proinflammatory state and impaired fibrinolysis

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis

Recommendations from the international stroke genetics consortium, part 1: standardized phenotypic data collection

Recommendations from the international stroke genetics consortium, part 2: biological sample collection and storage

Role of TRAF3 in neurological and cardiovascular diseases: an overview of recent studies.

Role of endogenous granulocyte-macrophage colony stimulating factor following stroke and relationship to neurological outcome.

Role of the MMP9 gene in hemorrhagic transformations after tissue-type plasminogen activator treatment in stroke patients

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL

TRAF3 Epigenetic Regulation Is Associated With Vascular Recurrence in Patients With Ischemic Stroke.

TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

The association of the 4q25 susceptibility variant for atrial fibrillation with stroke is limited to stroke of cardioembolic etiology

Tissue plasminogen activator (t-PA) promotes neutrophil degranulation and MMP-9 release.

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.

Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.

Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.

[ApoE genotype influences on efficacy and safety of thrombolytic treatment for ischemic stroke]

[Neurological manifestations of Fabry disease]

[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent]