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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

artículo científico publicado en 2014

A case-control study of hormonal exposures as etiologic factors for ALS in women: Euro-MOTOR.

artículo científico publicado en 2017

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 genome scan for rare CNVs in amyotrophic lateral sclerosis

artículo científico publicado en 2010

A randomized sequential trial of creatine in amyotrophic lateral sclerosis

artículo científico publicado en 2003

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study

artículo científico publicado en 2017

A stroke of insight from genetics

artículo científico publicado en 2016

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

artículo científico publicado en 2013

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

scientific article published on 19 May 2020

ATXN2 trinucleotide repeat length correlates with risk of ALS.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms

artículo científico publicado en 2016

Amyotrophic lateral sclerosis is not linked to multiple sclerosis in a population based study

artículo científico publicado en 2013

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

artículo científico publicado en 2014

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations

artículo científico publicado en 2008

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

Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

artículo científico publicado en 2014

Associated autoimmune diseases in patients with multifocal motor neuropathy and their family members

artículo científico publicado en 2011

Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control study

artículo científico publicado en 2015

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls

artículo científico publicado en 2013

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Author Correction: A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study.

artículo científico publicado en 2018

Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

artículo científico publicado en 2020

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation

scientific article published in Nature Communications

Blood lipids influence DNA methylation in circulating cells

artículo científico publicado en 2016

Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers

artículo científico publicado en 2015

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

artículo científico publicado en 2014

C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis

artículo científico publicado en 2016

CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis

artículo científico publicado en 2012

CGP 3466B has no effect on disease course of (G93A) mSOD1 transgenic mice

artículo científico publicado en 2004

Cell Specific eQTL Analysis without Sorting Cells

artículo científico publicado en 2015

Cell specific eQTL analysis without sorting cells

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis

Circulating microRNAs in patients with intracranial aneurysms

artículo científico publicado en 2017

Cluster RCT of case management on patients' quality of life and caregiver strain in ALS.

artículo científico publicado en 2013

Coding and Non-Coding RNA Abnormalities in Bipolar Disorder

scientific article published on 19 November 2019

Coding and non-coding RNA dysregulation in bipolar disorder

Cognitive behavioural therapy and quality of life in psychologically distressed patients with amyotrophic lateral sclerosis and their caregivers: Results of a prematurely stopped randomized controlled trial

artículo científico publicado en 2015

Comment: the environmental and genetic impact of spatial cluster analysis in ALS.

artículo científico publicado en 2015

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner ⬇️

artículo científico publicado el 6 de septiembre de 2012

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

artículo científico publicado en 2011

Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways

artículo científico publicado en 2016

Comprehensive pathway analyses of schizophrenia risk loci point to dysfunctional postsynaptic signaling

artículo científico publicado en 2018

Controversies and priorities in amyotrophic lateral sclerosis

artículo científico publicado en 2013

Copy number variants on the X chromosome in women with primary ovarian insufficiency

artículo científico publicado en 2011

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

artículo científico

Correction: DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

artículo científico publicado en 2018

Correlation between structural and functional connectivity impairment in amyotrophic lateral sclerosis

artículo científico publicado en 2014

Cortical thickness in ALS: towards a marker for upper motor neuron involvement

artículo científico publicado en 2014

Critical issues in ALS case-control studies: the case of the Euro-MOTOR study

artículo científico publicado en 2017

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

artículo científico publicado en 2017

Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies

artículo científico publicado en 2020

DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts

artículo científico publicado en 2013

Derivation of norms for the Dutch version of the Edinburgh cognitive and behavioral ALS screen

article by Leonhard A. Bakker et al published 12 October 2018 in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Detection of long repeat expansions from PCR-free whole-genome sequence data

artículo científico publicado en 2017

Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes

artículo científico publicado en 2009

Disease variants alter transcription factor levels and methylation of their binding sites

artículo científico publicado en 2016

Dutch population structure across space, time and GWAS design

scientific article published on 11 September 2020

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

artículo científico publicado en 2012

Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR

artículo científico publicado en 2019

Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis

scientific article published on 01 October 2015

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Erratum: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression

article

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

artículo científico publicado en 2011

Euthanasia and physician-assisted suicide among patients with amyotrophic lateral sclerosis in the Netherlands

artículo científico publicado en 2002

Euthanasia and physician-assisted suicide in amyotrophic lateral sclerosis: a prospective study

artículo científico publicado en 2014

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

artículo científico publicado en 2014

Exploring the fitness hypothesis in ALS: a population-based case-control study of parental cause of death and lifespan

artículo científico publicado en 2017

Exposure to chemicals and metals and risk of amyotrophic lateral sclerosis: a systematic review

artículo científico publicado en 2009

Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes

artículo científico publicado en 2012

Factors related to caregiver strain in ALS: a longitudinal study

artículo científico publicado en 2015

Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

artículo científico publicado en 2016

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

artículo científico publicado en 2016

Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Genetic analysis of ALS cases in the isolated island population of Malta

scientific article published on 07 January 2021

Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects

artículo científico publicado en 2012

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

artículo científico publicado en 2017

Genetic overlap between apparently sporadic motor neuron diseases

artículo científico publicado en 2012

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2007

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

artículo científico publicado en 2020

Genome-wide identification of directed gene networks using large-scale population genomics data

scientific article published in Nature Communications

Genome-wide identification of genes regulating DNA methylation using genetic anchors for causal inference

artículo científico publicado en 2020

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

artículo científico publicado en 2021

Genomic signals of migration and continuity in Britain before the Anglo-Saxons

artículo científico publicado en 2016

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

artículo científico publicado en 2012

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology

artículo científico publicado en 2019

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

scientific journal article

Identification of context-dependent expression quantitative trait loci in whole blood

artículo científico publicado en 2016

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

artículo científico publicado en 2018

Impaired structural motor connectome in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Increased paternal age and the influence on burden of genomic copy number variation in the general population

artículo científico publicado en 2013

Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

scholarly article

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

artículo científico publicado en 2015

Lifetime physical activity and the risk of amyotrophic lateral sclerosis ⬇️

artículo científico publicado el 16 de febrero de 2013

Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial ⬇️

artículo científico publicado el 29 de febrero de 2012

Long-Term Air Pollution Exposure and Amyotrophic Lateral Sclerosis in Netherlands: A Population-based Case–control Study.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Markov Models for inferring copy number variations from genotype data on Illumina platforms

artículo científico publicado en 2009

Meta-analysis of gene expression profiling in amyotrophic lateral sclerosis: a comparison between transgenic mouse models and human patients

artículo científico publicado en 2013

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

artículo científico publicado en 2021

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

artículo científico publicado en 2017

Monitoring disease progression with plasma creatinine in amyotrophic lateral sclerosis clinical trials

artículo científico publicado en 2017

Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study

artículo científico publicado en 2010

Multicentre, cross-cultural, population-based, case-control study of physical activity as risk factor for amyotrophic lateral sclerosis

artículo científico publicado en 2018

Multicentre, population-based, case-control study of particulates, combustion products and amyotrophic lateral sclerosis risk

artículo científico publicado en 2019

Multicohort genomewide association study reveals a new signal of protection against HIV-1 acquisition

artículo científico publicado en 2012

Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis

scientific article published on 15 May 2020

Multimodal tract-based analysis in ALS patients at 7T: a specific white matter profile?

artículo científico publicado en 2013

Multiple common variants for celiac disease influencing immune gene expression

artículo científico publicado en 2010

Mutational analysis of TARDBP in Parkinson's disease

artículo científico publicado en 2012

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

artículo científico publicado en 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

No association between gluten sensitivity and amyotrophic lateral sclerosis

artículo científico publicado en 2017

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

artículo científico publicado en 2013

No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy

artículo científico publicado en 2014

Occupational exposure and amyotrophic lateral sclerosis in a prospective cohort

artículo científico publicado en 2017

P413L CHGB is not associated with ALS susceptibility or age at onset in a Dutch population

artículo científico publicado en 2010

Parental age and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Patterns of symptom development in patients with motor neuron disease

artículo científico publicado en 2017

Pharmacokinetics of intravenous immunoglobulin in multifocal motor neuropathy.

artículo científico publicado en 2013

Physician-assisted death: dying with dignity?

artículo científico publicado en 2003

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology

artículo científico publicado en 2011

Population genetic differentiation of height and body mass index across Europe

artículo científico publicado en 2015

Positive muscle phenomena--diagnosis, pathogenesis and associated disorders

artículo científico

Prior medical conditions and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2014

Prognostic value of weight loss in patients with amyotrophic lateral sclerosis: a population-based study

artículo científico publicado en 2020

Progression of cerebral white matter hyperintensities on MRI is related to diastolic blood pressure ⬇️

artículo científico publicado el 1 de julio de 1998

Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis

artículo científico publicado en 2020

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

RNA Sequencing Analysis of Intracranial Aneurysm Walls Reveals Involvement of Lysosomes and Immunoglobulins in Rupture

artículo científico publicado en 2016

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis

artículo científico publicado en 2009

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

artículo científico publicado en 2016

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

Requests for euthanasia: origin of suffering in ALS, heart failure, and cancer patients

artículo científico publicado en 2010

Residential exposure to extremely low frequency electromagnetic fields and the risk of ALS.

artículo científico publicado en 2014

Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3.

artículo científico publicado en 2012

Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS

artículo científico publicado en 2011

Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis

artículo científico publicado en 2016

Serum angiogenin levels are elevated in ALS, but not Parkinson's disease

artículo científico publicado en 2014

Sexual differences in onset of disease and response to exercise in a transgenic model of ALS ⬇️

artículo científico publicado el 1 de noviembre de 2003

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

artículo científico publicado en 2015

Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Structural brain network imaging shows expanding disconnection of the motor system in amyotrophic lateral sclerosis

artículo científico publicado en 2013

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

artículo científico publicado en 2022

Subcortical structures in amyotrophic lateral sclerosis

artículo científico publicado en 2014

Systematic identification of trans eQTLs as putative drivers of known disease associations

artículo científico publicado en 2013

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

artículo científico publicado en 2012

The Association Between H63D Mutations in HFE and Amyotrophic Lateral Sclerosis in a Dutch Population

article

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

artículo científico publicado en 2012

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The epidemiology and treatment of ALS: focus on the heterogeneity of the disease and critical appraisal of therapeutic trials

artículo científico publicado en 2010

The future of motor neuron disease: the challenge is in the genes

artículo científico publicado en 2004

The genetic architecture of the human cerebral cortex

The genetic architecture of the human cerebral cortex

artículo científico publicado en 2020

The multistep hypothesis of ALS revisited: The role of genetic mutations

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

artículo científico publicado en 2019

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

artículo científico publicado en 2015

The verbal fluency index: Dutch normative data for cognitive testing in ALS.

artículo científico publicado en 2014

Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA

artículo científico publicado en 2011

Trends and determinants of end-of-life practices in ALS in the Netherlands

artículo científico publicado en 2009

UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands

artículo científico publicado en 2012

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression

artículo científico publicado en 2012

Validity of the Dutch version of the Amyotrophic Lateral Sclerosis Assessment Questionnaire, ALSAQ-40, ALSAQ-5.

artículo científico publicado en 2007

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

artículo científico publicado en 2008

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

artículo científico publicado en 2009

What does age at onset in ALS tell us about the genetic basis of the disease?

article

What we truly know about occupation as a risk factor for ALS: A critical and systematic review

artículo científico publicado en 2009

Whole Blood Gene Expression Profiles of Patients with a Past Aneurysmal Subarachnoid Hemorrhage

artículo científico publicado en 2015

Widespread structural brain involvement in ALS is not limited to the C9orf72 repeat expansion

artículo científico publicado en 2016

Would riluzole be efficacious in the new ALS trial design?

artículo científico publicado en 2010

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