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Lista de obras de Leonard H van den Berg

10Kin1day: A Bottom-Up Neuroimaging Initiative

artículo científico publicado en 2019

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

artículo científico publicado en 2016

A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS

scientific article published on 24 September 2020

A blended psychosocial support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: protocol of a randomized controlled trial.

artículo científico publicado en 2018

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

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 comparative study of brachial plexus sonography and magnetic resonance imaging in chronic inflammatory demyelinating neuropathy and multifocal motor neuropathy.

artículo científico publicado en 2017

A continuous repetitive task to detect fatigability in spinal muscular atrophy

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

artículo científico publicado en 2009

A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS).

artículo científico publicado en 2016

A natural history study of late onset spinal muscular atrophy types 3b and 4.

artículo científico publicado en 2008

A neuropsychological and behavioral study of PLS

artículo científico publicado en 2019

A placebo-controlled trial to investigate the safety and efficacy of Penicillin G/Hydrocortisone in patients with ALS (PHALS trial)

artículo científico publicado en 2020

A post hoc analysis of subgroup outcomes and creatinine in the phase III clinical trial (EMPOWER) of dexpramipexole in ALS

article

A proposal for new diagnostic criteria for ALS

scientific article published on 19 April 2020

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

artículo científico publicado en 2010

A way out of the maze: Campylobacter jejuni gene polymorphisms define Guillain-Barré syndrome

artículo científico publicado en 2005

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

artículo científico publicado en 2013

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

artículo científico publicado en 2012

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

Accelerometry for remote monitoring of physical activity in amyotrophic lateral sclerosis: a longitudinal cohort study

scientific article published on 11 June 2019

Activity-dependent conduction block in chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2010

Activity-dependent conduction block in multifocal motor neuropathy

artículo científico publicado en 2011

Acute Effects of Riluzole and Retigabine on Axonal Excitability in Patients With Amyotrophic Lateral Sclerosis: A Randomized, Double-Blind, Placebo-Controlled, Crossover Trial

artículo científico publicado en 2018

Addressing heterogeneity in amyotrophic lateral sclerosis CLINICAL TRIALS

artículo científico publicado en 2020

Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene

artículo científico publicado en 2007

Aerobic Exercise Therapy in Ambulatory Patients With ALS: A Randomized Controlled Trial

scientific article published on 01 February 2019

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

Aging effects on DNA methylation modules in human brain and blood tissue

artículo científico publicado en 2012

Alternative trial design in amyotrophic lateral sclerosis saves time and patients

artículo científico publicado en 2007

Alzheimer's disease beyond APOE.

artículo científico publicado en 2009

Amyotrophic lateral sclerosis

artículo científico publicado en 2017

Amyotrophic lateral sclerosis

artículo científico publicado en 2017

Amyotrophic lateral sclerosis

artículo científico publicado en 2017

Amyotrophic lateral sclerosis as a multi-step process: an Australia population study

scientific article published on 08 July 2019

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

artículo científico publicado en 2013

Amyotrophic lateral sclerosis: a consensus viewpoint on designing and implementing a clinical trial

artículo científico publicado en 2004

Amyotrophic lateral sclerosis: moving towards a new classification system

artículo científico publicado en 2016

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

artículo científico publicado en 2019

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

Anti-sulphatide antibodies in peripheral neuropathy

artículo científico publicado en 1993

Antiganglioside antibodies in polyneuropathy associated with monoclonal gammopathy ⬇️

artículo científico publicado el 27 de noviembre de 2001

Anti–GM1 IgG antibodies induce leukocyte effector functions via Fcγ receptors ⬇️

artículo científico publicado el 1 de mayo de 2003

Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

artículo científico publicado en 2014

Assessment of motor unit loss in patients with spinal muscular atrophy

scientific article published on 13 February 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Association between alcohol exposure and the risk of amyotrophic lateral sclerosis in the Euro-MOTOR study

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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 of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4.

artículo científico publicado en 2017

Association of the Fc gamma receptor IIA-R/R131 genotype with myasthenia gravis in Dutch patients.

artículo científico publicado en 2003

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 between psychological factors and health-related quality of life and global quality of life in patients with ALS: a systematic review

artículo científico publicado en 2016

Associations of Electric Shock and Extremely Low-Frequency Magnetic Field Exposure With the Risk of Amyotrophic Lateral Sclerosis

scientific article published on 01 April 2019

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

Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell-derived model.

artículo científico publicado en 2016

Axon guidance proteins: novel therapeutic targets for ALS?

artículo científico publicado en 2009

Axon loss is an important determinant of weakness in multifocal motor neuropathy

artículo científico publicado en 2006

Beneficial vascular risk profile is associated with amyotrophic lateral sclerosis

artículo científico publicado en 2011

Blended psychosocial support for partners of patients with ALS and PMA: results of a randomized controlled trial

scientific article published on 02 May 2020

Blood lipids influence DNA methylation in circulating cells

artículo científico publicado en 2016

Blood metal levels and amyotrophic lateral sclerosis risk: a prospective cohort

artículo científico publicado en 2020

Botulism and Guillain-Barré syndrome

artículo científico publicado en 1992

Brachial plexus magnetic resonance imaging differentiates between inflammatory neuropathies and does not predict disease course

artículo científico publicado en 2017

Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers

artículo científico publicado en 2015

Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy

artículo científico publicado en 2019

Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia

artículo científico publicado en 2014

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

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

Cardiac pathology in spinal muscular atrophy: a systematic review

artículo científico publicado en 2017

Caregiver burden in amyotrophic lateral sclerosis: A systematic review

artículo científico publicado en 2017

Case 40-2007: a man with weakness in the hands

artículo científico publicado en 2008

Cell Specific eQTL Analysis without Sorting Cells

artículo científico publicado en 2015

Cell specific eQTL analysis without sorting cells

Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness

artículo científico publicado en 2014

Chapter 12 Multifocal and other motor neuropathies

scientific article published on 01 January 2007

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

Chronic idiopathic axonal polyneuropathy and vitamin B6: a controlled population-based study

artículo científico

Chronic idiopathic axonal polyneuropathy is associated with the metabolic syndrome

artículo científico publicado en 2012

Chronic idiopathic axonal polyneuropathy. Comparison of patients with and without monoclonal gammopathy

artículo científico publicado en 1996

Chronic idiopathic polyneuropathy presenting in middle or old age: a clinical and electrophysiological study of 75 patients ⬇️

artículo científico publicado el 1 de octubre de 1993

Chronic obstructive pulmonary disease is not a risk factor for polyneuropathy: A prospective controlled study

artículo científico publicado en 2016

Classical and lectin complement pathway activity in polyneuropathy associated with IgM monoclonal gammopathy

artículo científico publicado en 2015

Clinical diagnosis and management of amyotrophic lateral sclerosis

artículo científico

Clinical features of late-onset Pompe disease: a prospective cohort study

artículo científico publicado en 2008

Clinical outcomes in multifocal motor neuropathy: A combined cross-sectional and follow-up study

scientific article published on 30 July 2020

Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations inTARDBP

artículo científico publicado en 2014

Clonality of anti-GM1 IgM antibodies in multifocal motor neuropathy and the Guillain-Barré syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy

artículo científico publicado en 2010

Cold paresis in multifocal motor neuropathy

artículo científico publicado en 2011

Comment: Plateaus and reversals in ALS disease course or limitations of trial design?

artículo científico publicado en 2016

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 variant at 16p11.2 conferring risk of psychosis.

artículo científico publicado en 2012

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

artículo científico publicado en 2011

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Comparative study of peripheral nerve Mri and ultrasound in multifocal motor neuropathy and amyotrophic lateral sclerosis

artículo científico publicado en 2016

Comparing methods to combine functional loss and mortality in clinical trials for amyotrophic lateral sclerosis

artículo científico publicado en 2018

Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses

artículo científico publicado en 2015

Comparison of maximal voluntary isometric contraction and hand-held dynamometry in measuring muscle strength of patients with progressive lower motor neuron syndrome ⬇️

artículo científico publicado el 1 de noviembre de 2003

Complement activity is associated with disease severity in multifocal motor neuropathy

artículo científico publicado en 2015

Connectome-Based Propagation Model in Amyotrophic Lateral Sclerosis

scientific article published on 18 February 2020

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 to our comment

artículo científico publicado en 2006

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

Correlates of health related quality of life in adult patients with spinal muscular atrophy

artículo científico publicado en 2016

Correlates of outcome and response to IVIg in 88 patients with multifocal motor neuropathy

artículo científico publicado en 2010

Correlation between structural and functional connectivity impairment in amyotrophic lateral sclerosis

artículo científico publicado en 2014

Correlation of the patient's reported outcome Inflammatory-RODS with an objective metric in immune-mediated neuropathies.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Criteria for conduction block based on computer simulation studies of nerve conduction with human data obtained in the forearm segment of the median nerve

artículo científico publicado en 2006

Criteria for demyelination based on the maximum slowing due to axonal degeneration, determined after warming in water at 37 degrees C: diagnostic yield in chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2005

Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Cross-diagnostic validity of the SF-36 physical functioning scale in patients with stroke, multiple sclerosis and amyotrophic lateral sclerosis: A study using rasch analysis

scientific article published on 01 March 2007

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

artículo científico publicado en 2017

Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease

scientific article published on 16 August 2019

Current trends in the clinical trial landscape for amyotrophic lateral sclerosis

scientific article published on 10 August 2020

Cytokine profiles in multifocal motor neuropathy and progressive muscular atrophy

artículo científico publicado en 2015

Deciphering amyotrophic lateral sclerosis: What phenotype, neuropathology and genetics are telling us about pathogenesis ⬇️

artículo científico publicado el 1 de mayo de 2013

Deep learning predictions of survival based on MRI in amyotrophic lateral sclerosis.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Demyelination and axonal loss in multifocal motor neuropathy: distribution and relation to weakness

artículo científico publicado en 2003

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 anti-MAG antibodies in polyneuropathy associated with IgM monoclonal gammopathy

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

artículo científico publicado en 2008

Development and assessment of the inter-rater and intra-rater reproducibility of a self-administration version of the ALSFRS-R

artículo científico publicado en 2019

Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): a randomised, double-blind, phase 3 trial

artículo científico publicado en 2013

Diagnostic value of high-resolution sonography in ulnar neuropathy at the elbow

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Diagnostic value of sural nerve demyelination in chronic inflammatory demyelinating polyneuropathy ⬇️

artículo científico publicado el 1 de diciembre de 2001

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

artículo científico publicado en 2009

Disease course and prognostic factors of progressive muscular atrophy

artículo científico publicado en 2007

Disease severity in multifocal motor neuropathy and its association with the response to immunoglobulin treatment

artículo científico publicado en 2002

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

artículo científico publicado en 2016

Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies

artículo científico publicado en 2014

Does ability to walk reflect general functionality in inflammatory neuropathies?

artículo científico publicado en 2016

Dpp6 is associated with susceptibility to progressive spinal muscular atrophy.

artículo científico publicado en 2009

Drug treatment for spinal muscular atrophy type I

artículo científico publicado en 2012

Drug treatment for spinal muscular atrophy type I

artículo científico publicado en 2011

Drug treatment for spinal muscular atrophy type I

artículo científico publicado en 2009

Drug treatment for spinal muscular atrophy type I

scientific article published on 11 December 2019

Drug treatment for spinal muscular atrophy types II and III

artículo científico publicado en 2012

Drug treatment for spinal muscular atrophy types II and III

artículo científico publicado en 2011

Drug treatment for spinal muscular atrophy types II and III

artículo científico publicado en 2009

Drug treatment for spinal muscular atrophy types II and III

scientific article published on 06 January 2020

Dutch population structure across space, time and GWAS design

scientific article published on 11 September 2020

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Edaravone: a new treatment for ALS on the horizon?

scientific article published on 15 May 2017

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

Effect of non-invasive ventilation on survival, quality of life, respiratory function and cognition: a review of the literature

artículo científico publicado en 2006

Effects of aerobic exercise therapy and cognitive behavioural therapy on functioning and quality of life in amyotrophic lateral sclerosis: protocol of the FACTS-2-ALS trial ⬇️

artículo científico publicado el 14 de junio de 2011

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

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

Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain.

artículo científico publicado en 2014

Evidence for a multimodal effect of riluzole in patients with ALS?

artículo científico publicado en 2019

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Evidence for heterogeneity of T cell expansion in polymyositis and inclusion body myositis

artículo científico publicado en 2002

Evidence-based care in amyotrophic lateral sclerosis

artículo científico publicado en 2006

Evidence-based guideline update: plasmapheresis in neurologic disorders

Excitability of motor and sensory axons in multifocal motor neuropathy

scientific article published on 26 August 2020

Excitability tests using high-density surface-EMG: A novel approach to studying single motor units

scientific article published on 01 June 2018

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

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

artículo científico publicado en 2011

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

Expression of accessory molecules for T-cell activation in peripheral nerve of patients with CIDP and vasculitic neuropathy.

artículo científico publicado en 2000

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

artículo científico publicado en 2010

Factors related to caregiver strain in ALS: a longitudinal study

artículo científico publicado en 2015

Family history of neurodegenerative and vascular diseases in ALS: a population-based study

artículo científico publicado en 2011

Fcγ receptor IIIA genotype is associated with rituximab response in antimyelin-associated glycoprotein neuropathy

artículo científico publicado en 2014

Features of the Guillain-Barré syndrome in mice following intraperitoneal injection of patient serum

artículo científico publicado en 1994

Few adverse effects of long-term creatine supplementation in a placebo-controlled trial

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Functional health status of patients with chronic inflammatory neuropathies

artículo científico publicado en 2005

Functioning of patients with multifocal motor neuropathy

artículo científico publicado en 2010

Gammadelta T cell non-responsiveness in Campylobacter jejuni-associated Guillain-Barré syndrome patients

artículo científico publicado en 2003

Ganglioside-specific IgG and IgA recruit leukocyte effector functions in Guillain-Barré syndrome

artículo científico publicado en 2006

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

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

artículo científico publicado en 2012

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 in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene

artículo científico publicado en 2009

Genome-wide association study of intracranial aneurysm identifies three new risk loci

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar

artículo científico publicado en 2015

Guidelines for preclinical animal research in ALS/MND: A consensus meeting

artículo científico publicado en 2010

Guidelines for the preclinical in vivo evaluation of pharmacological active drugs for ALS/MND: report on the 142nd ENMC international workshop

artículo científico publicado en 2007

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.

artículo científico publicado en 2018

Hereditary pure lower motor neuron disease with adult onset and rapid progression

scientific article published on 01 April 2001

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

article

High-resolution ultrasound in patients with Wartenberg's migrant sensory neuritis, a case-control study

artículo científico publicado en 2017

Home‐based IVIg treatment is convenient and time‐saving in patients with multifocal motor neuropathy ⬇️

artículo científico publicado el 1 de junio de 2011

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

artículo científico publicado en 2001

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

artículo científico publicado en 2019

Human immune globulin 10% with recombinant human hyaluronidase in multifocal motor neuropathy

artículo científico publicado en 2019

Hypermetabolism in ALS is associated with greater functional decline and shorter survival

artículo científico publicado en 2018

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

scientific journal article

IVIg inhibits classical pathway activity and anti-GM1 IgM-mediated complement deposition in MMN

artículo científico publicado en 2010

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

artículo científico publicado en 2016

IgG receptor IIa alleles determine susceptibility and severity of Guillain-Barré syndrome

scientific article published on 01 April 2000

Immune Pathogenesis and Treatment of Multifocal Motor Neuropathy ⬇️

artículo científico publicado el 2 de septiembre de 2012

Impaired structural motor connectome in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison

artículo científico publicado en 2015

Implications of spirometric reference values for amyotrophic lateral sclerosis

scientific article published on 04 July 2019

Improvement of multifocal motor neuropathy during long-term weekly treatment with human immunoglobulin

scientific article published on 01 May 1995

Incidence of polyneuropathy in Utrecht, the Netherlands

artículo científico publicado en 2014

Increase of sural nerve T cells in progressive axonal polyneuropathy and monoclonal gammopathy

artículo científico publicado en 2003

Increased frequencies of HPRT mutant T lymphocytes in patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy: further evidence for a role of T cells in the etiopathogenesis of peripheral demyelinating diseases

scientific article published on 01 April 1995

Increased frequency of HLA-DRB1*15 in patients with multifocal motor neuropathy

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Increasing the efficiency of clinical trials in neurodegenerative disorders using group sequential trial designs

artículo científico publicado en 2018

Indications for an immune-mediated etiology of idiopathic sensory neuronopathy

scientific article published on 01 April 1997

Intake of polyunsaturated fatty acids and vitamin E reduces the risk of developing amyotrophic lateral sclerosis

artículo científico publicado en 2007

Inter- and intraindividual variability of riluzole serum concentrations in patients with ALS.

artículo científico publicado en 2001

Intermittent cyclophosphamide and prednisone treatment of polyneuropathy associated with monoclonal gammopathy of undetermined significance.

artículo científico publicado en 1996

Intermittent cyclophosphamide with prednisone versus placebo for polyneuropathy with IgM monoclonal gammopathy

artículo científico publicado en 2007

Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy

artículo científico publicado en 2008

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

artículo científico publicado en 2020

Intravenous immunoglobulin for multifocal motor neuropathy

artículo científico publicado en 2005

Intravenous immunoglobulin treatment in lower motor neuron disease associated with highly raised anti-GM1 antibodies ⬇️

artículo científico publicado el 1 de noviembre de 1997

Intravenous immunoglobulin treatment in multifocal motor neuropathy

artículo científico publicado en 2010

Is cold paresis related to axonal depolarization?

artículo científico publicado el 1 de septiembre de 2010

Is human blood a good surrogate for brain tissue in transcriptional studies? ⬇️

artículo científico publicado el 20 de octubre de 2010

Is it accurate to classify ALS as a neuromuscular disorder?

artículo científico publicado en 2020

Is the Frontal Assessment Battery reliable in ALS patients? ⬇️

artículo científico publicado el 13 de agosto de 2012

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

scholarly article

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

artículo científico publicado en 2019

July 2017 ENCALS statement on edaravone

artículo científico publicado en 2017

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

scientific article published on 05 September 2019

Kuramoto model simulation of neural hubs and dynamic synchrony in the human cerebral connectome

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Leukocyte and complement activation by GM1-specific antibodies is associated with acute motor axonal neuropathy in rabbits

scientific article published on 11 December 2006

Lifetime occupation, education, smoking, and risk of ALS.

artículo científico publicado en 2007

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

Loss of appetite is associated with a loss of weight and fat mass in patients with amyotrophic lateral sclerosis

artículo científico publicado en 2019

MMN: from immunological cross-talk to conduction block

artículo científico publicado en 2014

MRI of the brachial plexus in polyneuropathy associated with monoclonal gammopathy

artículo científico publicado en 2001

MRI shows thickening and altered diffusion in the median and ulnar nerves in multifocal motor neuropathy

artículo científico publicado en 2016

Magnetic resonance imaging of the brachial plexus in patients with multifocal motor neuropathy

scientific article published on 01 May 1997

Magnetic resonance imaging of the cervical spinal cord in spinal muscular atrophy

scientific article published on 03 September 2019

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

Maximizing the Potential of Longitudinal Cohorts for Research in Neurodegenerative Diseases: A Community Perspective

artículo científico publicado en 2017

Measurement of decline of functioning in persons with amyotrophic lateral sclerosis: Responsiveness and possible applications of the Functional Independence Measure, Barthel Index, Rehabilitation Activities Profile and Frenchay Activities Index

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

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

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype

artículo científico publicado en 2008

Microglia innately develop within cerebral organoids

artículo científico publicado en 2018

Microhemorrhages: Undetectable but clinically meaningful the question persists

Mimic syndromes in sporadic cases of progressive spinal muscular atrophy

scientific article published on 01 June 2002

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

Multidisciplinary ALS care improves quality of life in patients with ALS.

artículo científico publicado en 2005

Multifocal inflammatory demyelinating neuropathy: a distinct clinical entity?

artículo científico publicado en 2000

Multifocal motor neuropathy

scientific article published on 01 March 1997

Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG‐1 genes ⬇️

artículo científico publicado el 1 de septiembre de 2011

Multifocal motor neuropathy: association of anti-GM1 IgM antibodies with clinical features

artículo científico publicado en 2010

Multifocal motor neuropathy: controversies and priorities

scientific article published on 11 September 2019

Multifocal motor neuropathy: diagnosis, pathogenesis and treatment strategies ⬇️

artículo científico publicado el 22 de noviembre de 2011

Multifocal motor neuropathy: diagnostic criteria that predict the response to immunoglobulin treatment

artículo científico publicado en 2000

Multifocal motor neuropathy: long-term clinical and electrophysiological assessment of intravenous immunoglobulin maintenance treatment

artículo científico publicado en 2002

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

Muscle strength and motor function in adolescents and adults with spinal muscular atrophy

scientific article published on 30 July 2020

Muscle strength and motor function throughout life in a cross- sectional cohort of 180 patients with SMA types 1c-4.

artículo científico publicado en 2017

Mutational analysis of TARDBP in Parkinson's disease

artículo científico publicado en 2012

Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy

artículo científico publicado en 2012

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

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

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

artículo científico publicado en 2012

Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy

scientific article published on 04 June 2019

Natural history of SMA IIIb: muscle strength decreases in a predictable sequence and magnitude

artículo científico publicado en 2009

Natural history of lung function in spinal muscular atrophy

scientific article published on 10 April 2020

Negative selection in humans and fruit flies involves synergistic epistasis.

artículo científico publicado en 2017

Nerve sonography to detect peripheral nerve involvement in vasculitis syndromes

artículo científico publicado en 2016

Nerve ultrasound and magnetic resonance imaging in the diagnosis of neuropathy

scientific article published on 01 October 2018

Nerve ultrasound can identify treatment-responsive chronic neuropathies without electrodiagnostic features of demyelination

scientific article published on 24 July 2019

Nerve ultrasound for diagnosing chronic inflammatory neuropathy: a multicenter validation study

artículo científico publicado en 2020

Nerve ultrasound improves detection of treatment-responsive chronic inflammatory neuropathies

scientific article published on 20 January 2020

Nerve ultrasound: A reproducible diagnostic tool in peripheral neuropathy

artículo científico publicado en 2018

Neuro-imaging in amyotrophic lateral sclerosis: Should we shift towards the periphery?

artículo científico publicado en 2020

Neuropathy and IgM M-proteins: prognostic value of antibodies to MAG, SGPG, and sulfatide

artículo científico publicado en 2001

Neuropathy associated with immunoglobulin M monoclonal gammopathy: A combined sonographic and nerve conduction study

scientific article published on 24 July 2019

New hope for patients with pure lower motor neuron syndromes

artículo científico publicado en 1999

New liquid intravenous immunoglobulin (10 % IVIg) for treatment of multifocal motor neuropathy: a prospective study of efficacy, safety and tolerability

scientific article published on 03 September 2008

No association between Borrelia burgdorferi antibodies and amyotrophic lateral sclerosis in a case-control study

artículo científico publicado en 2016

No association between gluten sensitivity and amyotrophic lateral sclerosis

artículo científico publicado en 2017

No benefits from experimental treatment with olfactory ensheathing cells in patients with ALS.

artículo científico publicado en 2010

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

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2011

Occupation and motor neuron disease: a New Zealand case–control study

article

Oral levosimendan in amyotrophic lateral sclerosis: a phase II multicentre, randomised, double-blind, placebo-controlled trial

scientific article published on 17 July 2019

Outcome measures in MMN revisited: further improvement needed

artículo científico publicado en 2015

Ovariectomy and 17beta-estradiol modulate disease progression of a mouse model of ALS.

artículo científico publicado en 2004

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

artículo científico publicado en 2010

Palliative care in amyotrophic lateral sclerosis: a review of current international guidelines and initiatives

artículo científico publicado en 2011

Palliative care in amyotrophic lateral sclerosis: a review of current international guidelines and initiatives

artículo científico publicado en 2011

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

scientific article published on 17 September 2008

Parental age and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Participation restrictions in ambulatory amyotrophic lateral sclerosis patients: Physical and psychological factors

artículo científico publicado en 2017

Pathogenicity of anti-ganglioside antibodies in the Guillain-Barré syndrome.

artículo científico publicado en 2004

Patterns of symptom development in patients with motor neuron disease

artículo científico publicado en 2017

Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure?

scientific article published on 17 October 2019

Pharmacokinetics of intravenous immunoglobulin in multifocal motor neuropathy.

artículo científico publicado en 2013

Physical activity and the association with sporadic ALS.

artículo científico publicado en 2005

Physician-assisted death: dying with dignity?

artículo científico publicado en 2003

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

artículo científico publicado en 2010

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

Population-based analysis of survival in spinal muscular atrophy

artículo científico publicado en 2020

Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

artículo científico publicado en 2014

Prevalence, specificity and functionality of anti-ganglioside antibodies in neuropathy associated with IgM monoclonal gammopathy

artículo científico publicado en 2014

Primary lateral sclerosis as a phenotypic manifestation of familial ALS

artículo científico publicado en 2005

Primary lateral sclerosis: consensus diagnostic criteria

scientific article published on 06 February 2020

Prior medical conditions and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Prognostic factors for the course of functional status of patients with ALS: a systematic review

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 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

Prose memory impairment in amyotrophic lateral sclerosis patients is related to hippocampus volume

artículo científico publicado en 2014

Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers

scientific article published on 02 October 2019

Protein aggregation in amyotrophic lateral sclerosis.

artículo científico

Proteomic profiling of the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis

artículo científico publicado en 2016

Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial)

scientific article published on 30 July 2018

Psychological distress and coping styles of caregivers of patients with amyotrophic lateral sclerosis: a longitudinal study

scientific article published on 18 January 2019

Psychological distress in partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: what's the role of care demands and perceived control?

scientific article published on 20 November 2019

Pulsed high-dose dexamethasone is not effective in patients with multifocal motor neuropathy

artículo científico publicado en 1997

Pulsed high-dose dexamethasone treatment of polyneuropathy associated with monoclonal gammopathy ⬇️

artículo científico publicado el 1 de julio de 1997

Pulsed high-dose dexamethasone versus standard prednisolone treatment for chronic inflammatory demyelinating polyradiculoneuropathy (PREDICT study): a double-blind, randomised, controlled trial

artículo científico publicado en 2010

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid

artículo científico publicado en 2010

Quantitative assessment of brachial plexus MRI for the diagnosis of chronic inflammatory neuropathies

scientific article published on 23 September 2020

Randomised controlled trial comparing two different intravenous immunoglobulins in chronic inflammatory demyelinating polyradiculoneuropathy

artículo científico publicado en 2010

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis

artículo científico publicado en 2009

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

article

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

artículo científico publicado en 2016

Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS(©) ).

artículo científico publicado en 2015

Reconsidering the causality of TIA1 mutations in ALS.

artículo científico publicado en 2017

Reconsidering the revised amyotrophic lateral sclerosis functional rating scale for ALS clinical trials

scientific article published on 23 November 2020

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

Rehabilitation care for patients with ALS in the Netherlands

artículo científico publicado en 2003

Replication study and meta-analysis in European samples supports association of the 3p21.1 locus with bipolar disorder

artículo científico publicado en 2012

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

Response to ‘Exploring limits of neuropsychological screening in ALS: The FAB problem’ ⬇️

artículo científico publicado el 4 de enero de 2013

Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

article

Riluzole serum concentrations in patients with ALS: associations with side effects and symptoms.

artículo científico publicado en 2003

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

artículo científico publicado en 2005

SMN1 gene duplications are associated with sporadic ALS.

artículo científico publicado en 2012

Safety and efficacy of ozanezumab in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled, phase 2 trial

artículo científico publicado en 2017

Safety and tolerability of Triumeq in amyotrophic lateral sclerosis: the Lighthouse trial

scientific article published on 08 July 2019

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

Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes

artículo científico publicado en 2009

Sequential designs for clinical trials in amyotrophic lateral sclerosis

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy

scientific article published on 28 March 2013

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

artículo científico publicado en 2014

Serum cytokine patterns in immunoglobulin m monoclonal gammopathy-associated polyneuropathy

artículo científico publicado en 2019

Severity of Guillain-Barré syndrome is associated with Fc gamma Receptor III polymorphisms

scientific article published on 01 May 2005

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

Shared vulnerability for connectome alterations across psychiatric and neurological brain disorders

artículo científico publicado en 2019

Simulating disease propagation across white matter connectome reveals anatomical substrate for neuropathology staging in amyotrophic lateral sclerosis

artículo científico

Simulating perinodal changes observed in immune-mediated neuropathies: impact on conduction in a model of myelinated motor and sensory axons

artículo científico publicado en 2019

Sixth nerve palsy from a CNS lesion in chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 1996

Smoking, Alcohol Consumption, and the Risk of Amyotrophic Lateral Sclerosis: A Population-based Study

artículo científico publicado en 2012

Social participation of adult patients with spinal muscular atrophy: Frequency, restrictions, satisfaction, and correlates

artículo científico publicado en 2018

Sodium-potassium pump assessment by submaximal electrical nerve stimulation

scientific article published on 31 January 2018

Spastin mutations in sporadic adult-onset upper motor neuron syndromes

article

Sporadic lower motor neuron disease with adult onset: classification of subtypes ⬇️

artículo científico publicado el 1 de mayo de 2003

Statins do not increase risk of polyneuropathy: A case-control study and literature review

scientific article published on 08 February 2019

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

Subcutaneous immunoglobulin therapy for multifocal motor neuropathy

artículo científico publicado en 2009

Support needs of caregivers of patients with amyotrophic lateral sclerosis: A qualitative study

artículo científico publicado en 2018

Sural nerve T cells in demyelinating polyneuropathy associated with monoclonal gammopathy

artículo científico publicado en 2001

Sural nerve T-cell receptor Vbeta gene utilization in chronic inflammatory demyelinating polyneuropathy and vasculitic neuropathy

Susceptibility loci for intracranial aneurysm in European and Japanese populations

artículo científico publicado en 2008

Susceptibility loci for sporadic brain arteriovenous malformation; a replication study and meta-analysis.

artículo científico publicado en 2015

Symptoms of activity-induced weakness in peripheral nervous system disorders

artículo científico publicado en 2011

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

TDP-43 proteinopathies: a new wave of neurodegenerative diseases

artículo científico publicado en 2020

TRICALS: creating a highway toward a cure

artículo científico publicado en 2020

Taking a risk: a therapeutic focus on ataxin-2 in amyotrophic lateral sclerosis?

artículo científico

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

artículo científico publicado en 2010

Telehealth as part of specialized ALS care: feasibility and user experiences with "ALS home-monitoring and coaching"

artículo científico publicado en 2020

The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS.

artículo científico publicado en 2012

The Beginning of Genomic Therapies for ALS

artículo científico publicado en 2020

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

artículo científico publicado en 2012

The Combined Assessment of Function and Survival (CAFS): A new endpoint for ALS clinical trials ⬇️

artículo científico publicado el 17 de enero de 2013

The Diagnostic Utility of Determining Anti-GM1: GalC Complex Antibodies in Multifocal Motor Neuropathy: A Validation Study

artículo científico publicado en 2015

The El Escorial criteria: Strengths and weaknesses

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

The TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseases.

artículo científico publicado en 2009

The changing picture of amyotrophic lateral sclerosis: lessons from European registers

artículo científico publicado en 2017

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

artículo científico publicado en 2012

The costs of amyotrophic lateral sclerosis, according to type of care

artículo científico publicado en 2009

The current use of telehealth in ALS care and the barriers to and facilitators of implementation: a systematic review

scientific article published on 26 December 2019

The diagnostic value of sural nerve T cells in chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 1999

The distinct traits of the UNC13A polymorphism in amyotrophic lateral sclerosis

artículo científico publicado en 2020

The effect of SMN gene dosage on ALS risk and disease severity

scientific article published on 02 January 2021

The frontotemporal syndrome of ALS is associated with poor survival

scientific article published on 26 September 2016

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

artículo científico publicado en 2004

The genetics and neuropathology of amyotrophic lateral sclerosis

artículo científico

The life expectancy of Stephen Hawking, according to the ENCALS model

artículo científico publicado en 2018

The long-term effect of intravenous immunoglobulin treatment in multifocal motor neuropathy ⬇️

artículo científico publicado el 1 de marzo de 1998

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 provision of assistive devices and home adaptations to patients with ALS in the Netherlands: patients' perspectives

artículo científico publicado en 2014

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 role of de novo mutations in the development of amyotrophic lateral sclerosis.

artículo científico

The role of nutrition as risk factor for polyneuropathy: a case-control study

artículo científico publicado en 2017

The spectrum of lower motor neuron syndromes

artículo científico publicado en 2003

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

artículo científico publicado en 2014

The Åstrand-Ryhming Test is not a Feasible Measure in Ambulatory Patients with Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

Therapy of amyotrophic lateral sclerosis remains a challenge

artículo científico publicado en 2014

Three families with polyneuropathy associated with monoclonal gammopathy

artículo científico publicado en 2000

Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9

artículo científico publicado en 2011

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

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

scientific article published on 20 May 2020

Treatment of Guillain-Barré syndrome with mycophenolate mofetil: a pilot study

artículo científico publicado en 2007

Treatment of multifocal motor neuropathy with high dose intravenous immunoglobulins: a double blind, placebo controlled study ⬇️

artículo científico publicado el 1 de septiembre de 1995

Treatment of multifocal motor neuropathy with interferon-beta1A

artículo científico publicado en 2000

Treatment of respiratory impairment in patients with motor neuron disease in the Netherlands: patient preference and timing of referral ⬇️

artículo científico publicado el 9 de febrero de 2013

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

artículo científico publicado en 2009

Tripod pinch strength and thumb opposition are the major determinants of manual dexterity in Charcot-Marie-Tooth disease type 1A

artículo científico publicado en 2010

Two heads are better than one: benefits of joint models for ALS trials

scientific article published on 11 April 2019

UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands

artículo científico publicado en 2012

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Ultrasonography shows extensive nerve enlargements in multifocal motor neuropathy

artículo científico publicado en 2005

Understanding the use of NIV in ALS: results of an international ALS specialist survey

artículo científico publicado en 2018

Unmyelinated nerve fiber degeneration in chronic inflammatory demyelinating polyneuropathy.

artículo científico publicado en 2000

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

artículo científico publicado en 2012

Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study ⬇️

artículo científico publicado el 28 de febrero de 2011

Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion

scientific article published on 18 May 2020

User perspectives on a psychosocial blended support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: a qualitative study.

artículo científico publicado en 2019

Using patient-reported symptoms of dyspnea for screening reduced respiratory function in patients with motor neuron diseases

artículo científico publicado en 2020

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

artículo científico publicado en 2012

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 10 November 2011

Validated inference of smoking habits from blood with a finite DNA methylation marker set

scientific article published on 07 September 2019

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

artículo científico publicado en 2007

Validity of the shuttle walk test as a functional assessment of walking ability in individuals with polyneuropathy

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Warming nerves for excitability testing

scientific article published on 10 July 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

artículo científico publicado en 2012

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

Zinc amplifies mSOD1-mediated toxicity in a transgenic mouse model of amyotrophic lateral sclerosis

artículo científico publicado en 2003

[Amyotrophic lateral sclerosis, a heterogeneous disorder]

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

artículo científico publicado en 2018

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