Lista de obras -

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

artículo científico publicado en 2003

A 43-Year-Old Female with Multifocal Cerebral Lesions. Histiocytic Sarcoma

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Age-related longitudinal changes in metabolic energy expenditure during walking in boys with Duchenne muscular dystrophy.

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

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

artículo científico publicado en 2019

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Diagnosis and treatment response in the asymmetric variant of chronic inflammatory demyelinating polyneuropathy

scientific article published on 29 May 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.

artículo científico publicado en 2008

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

artículo científico publicado en 2012

Genetic overlap between apparently sporadic motor neuron diseases

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

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

article

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

artículo científico publicado en 2015

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Intravenous immunoglobulins in patients with clinically suspected chronic immune-mediated neuropathy

scientific article published on 31 December 2018

July 2017 ENCALS statement on edaravone

artículo científico publicado en 2017

Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Lifetime physical activity and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Living with muscular dystrophy: health related quality of life consequences for children and adults

artículo científico publicado en 2007

Local dystrophin restoration with antisense oligonucleotide PRO051

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

scholarly article

Maintenance IV immunoglobulin treatment in chronic inflammatory demyelinating polyradiculoneuropathy

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

Neurosarcoidosis in a Tertiary Referral Center: A Cross-Sectional Cohort Study

artículo científico publicado en 2016

No association between gluten sensitivity and amyotrophic lateral sclerosis

artículo científico publicado en 2017

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2021

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

artículo científico publicado en 2014

Paraneoplastic Necrotizing Autoimmune Myopathy in a Patient Undergoing Laparoscopic Pancreatoduodenectomy for Distal Cholangiocarcinoma

artículo científico publicado en 2016

Parental age and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

scientific article published on 04 November 2019

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

artículo científico publicado en 2011

Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy.

artículo científico publicado en 2009

Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

artículo científico publicado en 2014

Prior medical conditions and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2014

Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis

artículo científico publicado en 2020

Protocol of a dose response trial of IV immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy (DRIP study).

artículo científico publicado en 2017

Randomised trial of intravenous immunoglobulin maintenance treatment regimens in chronic inflammatory demyelinating polradiculoneuropathy

scientific article published on 02 September 2020

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

article

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy

scientific article published on 28 March 2013

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

scientific article published on 13 August 2020

The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands

artículo científico publicado en 2016

The frontotemporal syndrome of ALS is associated with poor survival

scientific article published on 26 September 2016

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2011

[Recurrent rhabdomyolysis: screening for underlying disease]

scientific article published on 01 January 2010

Lista de obras de

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

A 43-Year-Old Female with Multifocal Cerebral Lesions. Histiocytic Sarcoma

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

Age-related longitudinal changes in metabolic energy expenditure during walking in boys with Duchenne muscular dystrophy.

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

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

Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness

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

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

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

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

Diagnosis and treatment response in the asymmetric variant of chronic inflammatory demyelinating polyneuropathy

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

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

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

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

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

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

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

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

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

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

Intravenous immunoglobulins in patients with clinically suspected chronic immune-mediated neuropathy

July 2017 ENCALS statement on edaravone

Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications

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

Living with muscular dystrophy: health related quality of life consequences for children and adults

Local dystrophin restoration with antisense oligonucleotide PRO051

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 ⬇️

Maintenance IV immunoglobulin treatment in chronic inflammatory demyelinating polyradiculoneuropathy

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

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

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Neurosarcoidosis in a Tertiary Referral Center: A Cross-Sectional Cohort Study

No association between gluten sensitivity and amyotrophic lateral sclerosis

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.

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

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

Paraneoplastic Necrotizing Autoimmune Myopathy in a Patient Undergoing Laparoscopic Pancreatoduodenectomy for Distal Cholangiocarcinoma

Parental age and the risk of amyotrophic lateral sclerosis

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

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

Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy.

Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

Prior medical conditions and the risk of amyotrophic lateral sclerosis

Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis

Protocol of a dose response trial of IV immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy (DRIP study).

Randomised trial of intravenous immunoglobulin maintenance treatment regimens in chronic inflammatory demyelinating polradiculoneuropathy

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

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

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

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

Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy

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

The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands

The frontotemporal syndrome of ALS is associated with poor survival

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

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

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

[Recurrent rhabdomyolysis: screening for underlying disease]