List of works by Michael A van Es

A case of ALS with posterior cortical atrophy

scientific article published on 08 July 2019

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

scientific article published in January 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 25 March 2009

A neuropsychological and behavioral study of PLS

scientific article published on 28 May 2019

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

scientific article

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.

scientific article

Amyotrophic lateral sclerosis

scientific article published on 25 May 2017

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

scientific article

Analysis ofFGGYas a risk factor for sporadic amyotrophic lateral sclerosis

article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

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

scientific article

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

scientific article published on 22 September 2018

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

scientific article

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

scientific article published on October 2010

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

scientific article published on 03 August 2018

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

scientific article

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

scientific article published on 30 September 2018

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

scientific article published on 7 December 2016

Dpp6 is associated with susceptibility to progressive spinal muscular atrophy.

scientific article published in March 2009

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

scientific article

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

scientific article published in February 2010

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

scientific article

Genetic overlap between apparently sporadic motor neuron diseases

scientific article

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

scientific article published on 25 July 2016

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

scientific article

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

scientific article published on 03 December 2009

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

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

scientific article published on 28 July 2011

Outcome in Patients with Isolated Moderate to Severe Traumatic Brain Injury

scientific article published on 23 September 2018

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

scientific article published on 26 March 2018

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

article

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 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

scientific article published on 28 January 2022

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

scientific article published on 21 August 2017

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

scientific article

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

scientific article published on 25 November 2011

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

scientific article published on 09 August 2012

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

scientific article

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

scientific article published on 25 June 2018

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

scientific article published on 02 April 2018

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