List of works - Marianne de Visser

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

scientific article

119th ENMC international workshop: Trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10–12 October 2003, Naarden, The Netherlands

article by Jessica E Hoogendijk et al published May 2004 in Neuromuscular Disorders

2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Adult Dermatomyositis and Polymyositis: An International Myositis Assessment and Clinical Studies Group/Paediatri

scientific article published on 6 April 2017

2016 American College of Rheumatology/European League Against Rheumatism criteria for minimal, moderate, and major clinical response in adult dermatomyositis and polymyositis: An International Myositis Assessment and Clinical Studies Group/Paediatri

scientific article published on May 2017

2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups

scientific article published on 27 October 2017

2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups.

scientific article

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

scientific article published on 18 January 2013

A systematic review of behavioural changes in motor neuron disease

scientific article

A time-to-event pharmacodynamic model describing treatment response in patients with pulmonary tuberculosis using days to positivity in automated liquid mycobacterial culture

scientific article published on 26 November 2012

Analysis ofFGGYas a risk factor for sporadic amyotrophic lateral sclerosis

article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

scientific article published on 06 May 2019

Baseline predictors of sputum culture conversion in pulmonary tuberculosis: importance of cavities, smoking, time to detection and W-Beijing genotype

scientific article

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

scientific article published in December 2002

Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers

scientific article

Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study

scientific article published in December 2014

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands

scientific article published on 06 April 2013

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

scientific article

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

scientific article

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

scientific article

Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo.

scientific article published in March 2002

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

scientific article published on 03 June 2015

Diagnostic accuracy of MRI and ultrasound in chronic immune-mediated neuropathies

scientific article published on 11 December 2019

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

scientific article published in April 2009

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

scientific article (publication date: 11 November 2012)

EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report

scientific article published in 2017

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

scientific article (publication date: April 2005)

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 enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

scientific article

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

scientific article published on 13 September 2012

Evaluation of the 2020 EAN Virtual Congress: transition from a face-to-face to a virtual meeting

scientific article published on 28 December 2020

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

scientific article

Exercise therapy and cognitive behavioural therapy to improve fatigue, daily activity performance and quality of life in postpoliomyelitis syndrome: the protocol of the FACTS-2-PPS trial

scientific article

Genetic overlap between apparently sporadic motor neuron diseases

scientific article

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

scientific article published on 25 July 2016

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

scientific article

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Harmonization of the neurological training across Europe and beyond is a challenge

scientific article published on 16 May 2020

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

article

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

scientific article published on 01 December 2018

Impact of nonlinear interactions of pharmacokinetics and MICs on sputum bacillary kill rates as a marker of sterilizing effect in tuberculosis

scientific article

Inclusion body myositis. Clinical features and clinical course of the disease in 64 patients

scientific article published on 17 June 2005

Increased CK activity in serum without symptoms: further investigations often unnecessary

scientific article published in January 2013

Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study

scientific article published on 25 October 2020

Is the Frontal Assessment Battery reliable in ALS patients?

scientific article published on 13 August 2012

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

scientific article published on 29 December 2015

Lifetime physical activity and the risk of amyotrophic lateral sclerosis

scientific article published on 16 February 2013

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

scientific article published on 29 February 2012

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

scientific article

Long-Term Exposure To Traffic Related Air Pollution Is Associated With An Increased Risk Of Amyotrophic Lateral Sclerosis ⬇️

scholarly article

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

scientific article

Micronutrient supplementation for children with HIV infection

scientific article

Micronutrient supplementation in adults with HIV infection.

scientific article

Micronutrient supplementation in children and adults with HIV infection

scientific article (publication date: 8 December 2010)

Micronutrient supplementation in children and adults with HIV infection

scientific article

Micronutrient supplementation in pregnant women with HIV infection

scientific article

Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA

scientific article published on March 2016

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

scientific article (publication date: July 2014)

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

scientific article published on 01 June 2012

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

scientific article (publication date: February 2002)

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

scientific article

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

scientific article

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

scientific article published on 01 September 2020

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

scientific article

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

scientific article published on 28 July 2011

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

scientific article published in May 2008

Nutritional interventions for reducing morbidity and mortality in people with HIV

scientific article (publication date: 28 February 2013)

Nutritional interventions for reducing morbidity and mortality in people with HIV

scientific article

OptimisAtion of Diagnostic Accuracy in idioPathic inflammaTory myopathies (ADAPT study): a protocol for a prospective diagnostic accuracy study of multimodality testing in patients suspected of a treatable idiopathic inflammatory myopathy

scientific article published in 2021

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

scientific article

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

scientific article published on 19 March 2014

Parental age and the risk of amyotrophic lateral sclerosis

scientific article published on 14 November 2012

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

scientific article published on 27 May 2011

Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

scientific article published on 30 July 2014

Prior medical conditions and the risk of amyotrophic lateral sclerosis

scientific article published on 25 July 2014

Progress report on development of classification criteria for adult and juvenile idiopathic inflammatory myopathies

scientific article published on 17 September 2014

Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis

scientific article published on 13 May 2020

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis

scientific article

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

article

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

scientific article

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Author response

scientific article published in June 2013

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Author response

scientific article

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

scientific article published in October 2014

Response to 'Exploring limits of neuropsychological screening in ALS: the FAB problem'.

scientific article published on 4 January 2013

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

scientific article published on 12 September 2012

The SLCO1B1 rs4149032 polymorphism is highly prevalent in South Africans and is associated with reduced rifampin concentrations: dosing implications.

scientific article

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

scientific article published on 13 August 2020

The cognitive profile of ALS: a systematic review and meta-analysis update

scientific article

The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis

scientific article published on January 2010

The cognitive profile of behavioural variant FTD and its similarities with ALS: a systematic review and meta-analysis

scientific article published on 9 February 2018

The frontotemporal syndrome of ALS is associated with poor survival

scientific article published on 26 September 2016

The history of progressive muscular atrophy: syndrome or disease?

scientific article

The lymphoid follicle variant of dermatomyositis

scientific article published on 28 July 2014

The pyrazinamide susceptibility breakpoint above which combination therapy fails

scientific article

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

scientific article

Treatment for postpolio syndrome

scientific article

Treatment for postpolio syndrome

scientific article (publication date: 16 February 2011)

Treatment for postpolio syndrome

scientific article (publication date: 15 April 2009)

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 10 November 2011

Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature.

scientific article

What we do not know about pregnancy in hereditary neuromuscular disorders

scientific article published on 18 August 2009

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

scientific article

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

scientific article published in December 2011

[Amyotrophic lateral sclerosis and frontotemporal dementia: overlapping characteristics]

scientific article published on 01 January 2010

List of works by Marianne de Visser

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

119th ENMC international workshop: Trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10–12 October 2003, Naarden, The Netherlands

2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Adult Dermatomyositis and Polymyositis: An International Myositis Assessment and Clinical Studies Group/Paediatri

2016 American College of Rheumatology/European League Against Rheumatism criteria for minimal, moderate, and major clinical response in adult dermatomyositis and polymyositis: An International Myositis Assessment and Clinical Studies Group/Paediatri

2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups

2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups.

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

A systematic review of behavioural changes in motor neuron disease

A time-to-event pharmacodynamic model describing treatment response in patients with pulmonary tuberculosis using days to positivity in automated liquid mycobacterial culture

Analysis ofFGGYas a risk factor for sporadic amyotrophic lateral sclerosis

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Baseline predictors of sputum culture conversion in pulmonary tuberculosis: importance of cavities, smoking, time to detection and W-Beijing genotype

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers

Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

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

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo.

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

Diagnostic accuracy of MRI and ultrasound in chronic immune-mediated neuropathies

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

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

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

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

Evaluation of the 2020 EAN Virtual Congress: transition from a face-to-face to a virtual meeting

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Exercise therapy and cognitive behavioural therapy to improve fatigue, daily activity performance and quality of life in postpoliomyelitis syndrome: the protocol of the FACTS-2-PPS trial

Genetic overlap between apparently sporadic motor neuron diseases

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

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

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

Harmonization of the neurological training across Europe and beyond is a challenge

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

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

Impact of nonlinear interactions of pharmacokinetics and MICs on sputum bacillary kill rates as a marker of sterilizing effect in tuberculosis

Inclusion body myositis. Clinical features and clinical course of the disease in 64 patients

Increased CK activity in serum without symptoms: further investigations often unnecessary

Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study

Is the Frontal Assessment Battery reliable in ALS patients?

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

Lifetime physical activity and the risk of amyotrophic lateral sclerosis

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

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

Long-Term Exposure To Traffic Related Air Pollution Is Associated With An Increased Risk Of Amyotrophic Lateral Sclerosis ⬇️

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

Micronutrient supplementation for children with HIV infection

Micronutrient supplementation in adults with HIV infection.

Micronutrient supplementation in children and adults with HIV infection

Micronutrient supplementation in children and adults with HIV infection

Micronutrient supplementation in pregnant women with HIV infection

Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

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

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Nutritional interventions for reducing morbidity and mortality in people with HIV

Nutritional interventions for reducing morbidity and mortality in people with HIV

OptimisAtion of Diagnostic Accuracy in idioPathic inflammaTory myopathies (ADAPT study): a protocol for a prospective diagnostic accuracy study of multimodality testing in patients suspected of a treatable idiopathic inflammatory myopathy

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

Parental age and the risk of amyotrophic lateral sclerosis

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

Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

Prior medical conditions and the risk of amyotrophic lateral sclerosis

Progress report on development of classification criteria for adult and juvenile idiopathic inflammatory myopathies

Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis