Lista de obras -

A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology

scientific article published on 14 January 2019

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

artículo científico publicado en 2015

Association of common genetic variants with brain microbleeds: A Genome-wide Association Study

scientific article published on 10 September 2020

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

artículo científico publicado en 2012

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

artículo científico publicado en 2017

Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease.

artículo científico publicado en 2016

Cerebral Cortical Microinfarcts on Magnetic Resonance Imaging and Their Association With Cognition in Cerebral Amyloid Angiopathy

artículo científico publicado en 2018

Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study

artículo científico publicado en 2017

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

artículo científico publicado en 2015

Dolichoectasia and Small Vessel Disease in Young Patients With Transient Ischemic Attack and Stroke

artículo científico publicado en 2017

Enzyme enhancers for the treatment of Fabry and Pompe disease.

artículo científico publicado en 2014

Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells.

artículo científico publicado en 2010

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

artículo científico publicado en 2013

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

artículo científico publicado en 2015

Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2

artículo científico publicado en 2016

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients

artículo científico publicado en 2013

Heritability of young- and old-onset ischaemic stroke.

artículo científico publicado en 2015

How to Organize a Journal Club for Fellows and Residents

artículo científico publicado en 2018

In search of a putative imaging biomarker for Fabry disease: Go with the flow?

artículo científico publicado en 2018

Integrity of normal-appearing white matter and functional outcomes after acute ischemic stroke.

artículo científico publicado en 2017

Journal Club: Florbetapir imaging in cerebral amyloid angiopathy-related hemorrhages

artículo científico publicado en 2018

Journal Club: Time trends in incidence, case fatality, and mortality of intracerebral hemorrhage

artículo científico publicado en 2016

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

artículo científico publicado en 2016

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports

artículo científico publicado en 2016

Newborn screening for lysosomal storage disorders in hungary.

artículo científico publicado en 2012

Perioperative posterior reversible encephalopathy syndrome in 2 pediatric neurosurgery patients with brainstem ependymoma.

artículo científico publicado en 2011

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

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

artículo científico publicado en 2014

Structural Integrity of Normal Appearing White Matter and Sex-Specific Outcomes After Acute Ischemic Stroke.

artículo científico publicado en 2017

White Matter Hyperintensity Volume and Outcome of Mechanical Thrombectomy With Stentriever in Acute Ischemic Stroke

artículo científico publicado en 2017

White Matter Integrity and Early Outcomes After Acute Ischemic Stroke

artículo científico publicado en 2019

White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype

artículo científico publicado en 2020

White matter hyperintensity quantification in large-scale clinical acute ischemic stroke cohorts - The MRI-GENIE study.

artículo científico publicado en 2019

Lista de obras de

A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

Association of common genetic variants with brain microbleeds: A Genome-wide Association Study

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease.

Cerebral Cortical Microinfarcts on Magnetic Resonance Imaging and Their Association With Cognition in Cerebral Amyloid Angiopathy

Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

Dolichoectasia and Small Vessel Disease in Young Patients With Transient Ischemic Attack and Stroke

Enzyme enhancers for the treatment of Fabry and Pompe disease.

Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells.

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients

Heritability of young- and old-onset ischaemic stroke.

How to Organize a Journal Club for Fellows and Residents

In search of a putative imaging biomarker for Fabry disease: Go with the flow?

Integrity of normal-appearing white matter and functional outcomes after acute ischemic stroke.

Journal Club: Florbetapir imaging in cerebral amyloid angiopathy-related hemorrhages

Journal Club: Time trends in incidence, case fatality, and mortality of intracerebral hemorrhage

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports

Newborn screening for lysosomal storage disorders in hungary.

Perioperative posterior reversible encephalopathy syndrome in 2 pediatric neurosurgery patients with brainstem ependymoma.

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

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

Structural Integrity of Normal Appearing White Matter and Sex-Specific Outcomes After Acute Ischemic Stroke.

White Matter Hyperintensity Volume and Outcome of Mechanical Thrombectomy With Stentriever in Acute Ischemic Stroke

White Matter Integrity and Early Outcomes After Acute Ischemic Stroke

White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype

White matter hyperintensity quantification in large-scale clinical acute ischemic stroke cohorts - The MRI-GENIE study.