Lista de obras -

A case of ALS with posterior cortical atrophy

artículo científico publicado en 2019

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

artículo científico publicado en 2009

A case series of PLS patients with frontotemporal dementia and overview of the literature

artículo científico publicado en 2017

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

artículo científico publicado en 2010

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2013

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

artículo científico publicado en 2009

A neuropsychological and behavioral study of PLS

artículo científico publicado en 2019

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

artículo científico publicado en 2010

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

artículo científico publicado en 2012

Amyotrophic lateral sclerosis

artículo científico publicado en 2017

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

artículo científico publicado en 2014

Analysis ofFGGYas a risk factor for sporadic amyotrophic lateral sclerosis

article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

artículo científico

Assessment of the factorial validity and reliability of the ALSFRS-R: a revision of its measurement model

artículo científico publicado en 2017

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

artículo científico publicado en 2018

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

artículo científico publicado en 2014

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

artículo científico publicado en 2010

Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes

artículo científico publicado en 2018

Depolarized inactivation overcomes impaired activation to produce DRG neuron hyperexcitability in a Nav1.7 mutation in a patient with distal limb pain.

artículo científico publicado en 2014

Diagnostic value of emergency medical services provider judgement in the identification of head injuries among trauma patients

artículo científico publicado en 2018

Diagnostic value of sonography in treatment-naive chronic inflammatory neuropathies.

artículo científico publicado en 2016

Dpp6 is associated with susceptibility to progressive spinal muscular atrophy.

artículo científico publicado en 2009

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

artículo científico publicado en 2012

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

artículo científico publicado en 2010

Gene-network analysis identifies susceptibility genes related to glycobiology in autism

artículo científico publicado en 2009

Genetic overlap between apparently sporadic motor neuron diseases

artículo científico publicado en 2012

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2009

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

scientific journal article

Implications of spirometric reference values for amyotrophic lateral sclerosis

scientific article published on 04 July 2019

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

scientific article published on 05 September 2019

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

artículo científico publicado en 2009

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

artículo científico publicado en 2012

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2011

Outcome in Patients with Isolated Moderate to Severe Traumatic Brain Injury

artículo científico publicado en 2018

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

artículo científico publicado en 2018

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

article

Reconsidering the causality of TIA1 mutations in ALS.

artículo científico publicado en 2017

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Refining eligibility criteria for amyotrophic lateral sclerosis clinical trials

scientific article published on 09 January 2019

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

scientific article published on 03 May 2018

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

artículo científico publicado en 2022

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.

artículo científico publicado en 2017

Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse.

artículo científico publicado en 2010

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

artículo científico publicado en 2011

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

artículo científico publicado en 2012

Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients

artículo científico publicado en 2009

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study.

artículo científico publicado en 2018

“ALS reversals”: demographics, disease characteristics, treatments, and co-morbidities

artículo científico publicado en 2018

Lista de obras de

A case of ALS with posterior cortical atrophy

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

A case series of PLS patients with frontotemporal dementia and overview of the literature

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

A neuropsychological and behavioral study of PLS

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Amyotrophic lateral sclerosis

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

Analysis ofFGGYas a risk factor for sporadic amyotrophic lateral sclerosis

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Assessment of the factorial validity and reliability of the ALSFRS-R: a revision of its measurement model

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes

Depolarized inactivation overcomes impaired activation to produce DRG neuron hyperexcitability in a Nav1.7 mutation in a patient with distal limb pain.

Diagnostic value of emergency medical services provider judgement in the identification of head injuries among trauma patients

Diagnostic value of sonography in treatment-naive chronic inflammatory neuropathies.

Dpp6 is associated with susceptibility to progressive spinal muscular atrophy.

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

Gene-network analysis identifies susceptibility genes related to glycobiology in autism

Genetic overlap between apparently sporadic motor neuron diseases

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

Implications of spirometric reference values for amyotrophic lateral sclerosis

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

Outcome in Patients with Isolated Moderate to Severe Traumatic Brain Injury

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

Reconsidering the causality of TIA1 mutations in ALS.

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Refining eligibility criteria for amyotrophic lateral sclerosis clinical trials

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.

Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse.

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study.

“ALS reversals”: demographics, disease characteristics, treatments, and co-morbidities