List of works - Nicol Voermans

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

scientific article published on 11 July 2018

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

scientific article published on 19 October 2016

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

scientific article published on 18 January 2013

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

scientific article published on 13 October 2017

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

scientific article published on 6 July 2017

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

scientific article published on 5 July 2016

Anaesthesia and neuromuscular disorders: what a neurologist needs to know

scientific article published on 27 October 2020

Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type

scientific article published on 15 November 2010

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

scientific article published on 14 July 2016

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

scientific article published in 2021

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

scientific article published on 5 November 2013

Computer-aided visualization of muscle weakness distribution

scientific article

Congenital myopathies: not only a paediatric topic.

scientific article

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

scientific article

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

scientific article published on 30 October 2017

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

scientific article published on 18 March 2015

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

scientific article

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

scientific article

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

scientific article published on 07 September 2016

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

scientific article published on 06 July 2018

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

scientific article published on 16 October 2018

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

scientific article

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome

scientific article

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

scientific article published on 12 May 2018

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

scientific article

Hydrocephalus induced chorea

scientific article published on 23 January 2009

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

scientific article published in January 2013

Interaction between the human hippocampus and the caudate nucleus during route recognition

scientific article published in August 2004

KBTBD13 is an actin-binding protein that modulates muscle kinetics

scientific article published on 01 February 2020

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

scientific article published on 29 December 2015

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

scientific article published on 28 June 2018

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

scientific article

Muscle fiber dysfunction contributes to weakness in inclusion body myositis

scientific article published on 07 March 2019

Mutation-specific effects on thin filament length in thin filament myopathy

scientific article published on 13 April 2016

Neurological and spinal manifestations of the Ehlers-Danlos syndromes

scientific article published on 21 February 2017

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

scientific article

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

scientific article

Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome.

scientific article published on 21 November 2012

Overactive muscles: it can be more serious than common myalgia or cramp

scientific article published in January 2016

Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment

scientific article published on 25 June 2010

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

scientific article published on 01 January 2019

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

scientific article published on 21 January 2020

Prior medical conditions and the risk of amyotrophic lateral sclerosis

scientific article published on 25 July 2014

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers

scientific article published on 06 September 2018

Re: Cervical myelopathy caused by retrograde intraneural dissection of anesthetic solution

scientific article published in April 2008

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

scientific article published on 11 December 2013

Rituximab treatment in patients with refractory inflammatory myopathies

scientific article published on 13 May 2011

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

scientific article published on 20 July 2013

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

scientific article published on 26 June 2019

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

scientific article

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

scientific article published on 31 August 2019

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

scientific article published on 01 June 2012

Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome

scientific article published on 08 June 2017

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

scientific article published on September 2015

The 2017 international classification of the Ehlers-Danlos syndromes

scientific article published on March 2017

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

scientific article published on 13 February 2016

The Ehlers-Danlos syndromes, rare types

scientific article published on March 2017

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

scientific article

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

scientific article published on 05 January 2012

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations

scientific article published on 17 August 2017

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy

scientific article published on 09 February 2016

List of works by Nicol Voermans

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

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

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Anaesthesia and neuromuscular disorders: what a neurologist needs to know

Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Computer-aided visualization of muscle weakness distribution

Congenital myopathies: not only a paediatric topic.

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

Hydrocephalus induced chorea

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

Interaction between the human hippocampus and the caudate nucleus during route recognition

KBTBD13 is an actin-binding protein that modulates muscle kinetics

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

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

MRI in sarcoglycanopathies: a large international cohort study.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

Muscle fiber dysfunction contributes to weakness in inclusion body myositis

Mutation-specific effects on thin filament length in thin filament myopathy

Neurological and spinal manifestations of the Ehlers-Danlos syndromes

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome.

Overactive muscles: it can be more serious than common myalgia or cramp

Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

Prior medical conditions and the risk of amyotrophic lateral sclerosis

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers

Re: Cervical myelopathy caused by retrograde intraneural dissection of anesthetic solution

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

Rituximab treatment in patients with refractory inflammatory myopathies

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

The 2017 international classification of the Ehlers-Danlos syndromes

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

The Ehlers-Danlos syndromes, rare types

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy