about
Assessment of the factorial validity and reliability of the ALSFRS-R: a revision of its measurement model.Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse.A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALSSusceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.Reconsidering the causality of TIA1 mutations in ALS.A case series of PLS patients with frontotemporal dementia and overview of the literature.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 sonography in treatment-naive chronic inflammatory neuropathies.Dpp6 is associated with susceptibility to progressive spinal muscular atrophy.Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study.Amyotrophic lateral sclerosisSenataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patientsPrognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction modelOutcome in Patients with Isolated Moderate to Severe Traumatic Brain InjuryAssociation of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort“ALS reversals”: demographics, disease characteristics, treatments, and co-morbiditiesNovel optineurin mutations in sporadic amyotrophic lateral sclerosis patientsRare and common paraoxonase gene variants in amyotrophic lateral sclerosis patientsVAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patientH63D polymorphism in HFE is not associated with amyotrophic lateral sclerosisRefining eligibility criteria for amyotrophic lateral sclerosis clinical trialsUNC13A is a modifier of survival in amyotrophic lateral sclerosisLarge-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosisCognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypesDiagnostic value of emergency medical services provider judgement in the identification of head injuries among trauma patientsImplications of spirometric reference values for amyotrophic lateral sclerosisA case of ALS with posterior cortical atrophyA neuropsychological and behavioral study of PLSKIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
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P50
description
investigador
@es
researcher
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wetenschapper
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M A van Es
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M A van Es
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type
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M A van Es
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M A van Es
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M A van Es
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M A van Es
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P31
P496
0000-0002-7709-5883