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123rd ENMC International Workshop: management and therapy in myotonic dystrophy, 6-8 February 2004, Naarden, The Netherlands

scientific article published on 01 May 2005

160th ENMC International Workshop (First ENMC practical care workshop) Exercise training in patients with muscle diseases: 20-22 June 2008, Naarden, The Netherlands.

artículo científico publicado en 2012

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

artículo científico publicado en 2010

191st ENMC International Workshop: Recent advances in oculopharyngeal muscular dystrophy research: From bench to bedside 8-10 June 2012, Naarden, The Netherlands

200th ENMC International Workshop "European reference networks: recommendations and criteria in the neuromuscular field", 18-20 October 2013, Naarden, The Netherlands

artículo científico publicado en 2014

2010 Marigold therapeutic strategies for myotonic dystrophy

222nd ENMC International Workshop:

artículo científico publicado en 2018

225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands

artículo científico publicado en 2017

248th ENMC International Workshop: Myotonic dystrophies: Molecular approaches for clinical purposes, framing a European molecular research network, Hoofddorp, the Netherlands, 11-13 October 2019

artículo científico publicado en 2020

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy

artículo científico publicado en 2018

A case of neuromuscular mimicry

artículo científico publicado en 2006

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

artículo científico publicado en 2013

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

artículo científico publicado en 2018

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

artículo científico publicado en 2012

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

artículo científico publicado en 2013

A weak balance: the contribution of muscle weakness to postural instability and falls

artículo científico publicado en 2008

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

artículo científico publicado en 2017

Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis

scientific article published on 07 March 2019

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy

artículo científico publicado en 2020

Altered sensorimotor representations after recovery from peripheral nerve damage in neuralgic amyotrophy

artículo científico publicado en 2020

Ambulatory disabilities and the use of walking aids in patients with hereditary motor and sensory neuropathy type I (HMSN I).

artículo científico publicado en 2007

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.

artículo científico publicado en 2015

An evaluation of 24 h Holter monitoring in patients with myotonic dystrophy type 1

scientific article published in 2022

An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration

artículo científico publicado en 2024

Auditory processing in patients with Charcot-Marie-Tooth disease type 1A.

artículo científico publicado en 2003

Autoantibodies directed to novel components of the PM/Scl complex, the human exosome

artículo científico publicado en 2002

Autoantibody testing in idiopathic inflammatory myopathies

scientific article published on 02 March 2019

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

artículo científico publicado en 2006

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

artículo científico publicado en 2012

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

artículo científico publicado en 2016

Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: an RCT.

artículo científico publicado en 2014

Brain imaging in myotonic dystrophy type 1: A systematic review

artículo científico publicado en 2017

Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol

artículo científico publicado en 2011

Cell membrane integrity in myotonic dystrophy type 1: implications for therapy

artículo científico publicado en 2015

Characterization of EEG-based functional brain networks in myotonic dystrophy type 1

artículo científico publicado en 2020

Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy.

artículo científico publicado en 2016

Child neurology: differential diagnosis of a low CSF glucose in children and young adults

artículo científico

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

artículo científico publicado en 2021

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle

scientific article published on 02 November 2007

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

Classification of employment factors according to the International Classification of Functioning, Disability and Health in patients with neuromuscular diseases: a systematic review

artículo científico publicado en 2009

Clinical applications of high-density surface EMG: a systematic review.

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Clinical phenotype and outcome of hepatitis E virus-associated neuralgic amyotrophy

artículo científico publicado en 2017

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

artículo científico publicado en 2019

Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial

artículo científico publicado en 2015

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

article

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.

artículo científico publicado en 2015

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

artículo científico publicado en 2009

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

artículo científico publicado en 2002

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

artículo científico publicado en 2013

Computer-aided visualization of muscle weakness distribution

artículo científico publicado en 2008

Concomitant dermatomyositis and myasthenia gravis presenting with respiratory insufficiency.

artículo científico publicado en 2002

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

scientific article published on 21 February 2020

Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine

scientific article published on 01 February 2020

Contribution of central and peripheral factors to residual fatigue in Guillain-Barré syndrome

artículo científico publicado en 2007

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

scientific article published on 15 August 2019

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

artículo científico publicado en 2012

Cost-effectiveness of shared medical appointments for neuromuscular patients.

artículo científico publicado en 2015

Cytokine genes as potential biomarkers for muscle weakness in OPMD.

artículo científico publicado en 2016

Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

artículo científico publicado en 2017

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

artículo científico publicado en 2017

Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

artículo científico publicado en 2020

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Development of a tool to guide referral of patients with neuromuscular disorders to allied health services. Part one.

artículo científico publicado en 2008

Development of a tool to guide referral of patients with neuromuscular disorders to allied health services. Part two

artículo científico publicado en 2008

Diagnosis and differential diagnosis of muscle cramps: a clinical approach

artículo científico publicado en 2002

Diagnostic yield of muscle fibre conduction velocity in myopathies

scientific article published on 16 August 2011

Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools.

artículo científico publicado en 2018

Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy. A clinical and electrophysiological study ⬇️

artículo científico publicado el 1 de junio de 1997

Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue

artículo científico publicado en 2008

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

artículo científico publicado en 2012

Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.

artículo científico publicado en 2003

Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye.

artículo científico publicado en 2011

Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases

artículo científico publicado en 2015

Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration

scientific article published on 14 January 2014

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Dynamic stability during level walking and obstacle crossing in persons with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2015

Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

artículo científico publicado en 2013

Early diagnosis of ALS: the search for signs of denervation in clinically normal muscles

artículo científico publicado en 2007

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

scientific article published on 19 December 2018

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

artículo científico publicado en 2017

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials

artículo científico publicado en 2018

Effect of Suboptimal Sampling and Handling Conditions on Urinary Metabolic Profiles

article by Judit Morello et al published 19 October 2014 in Chromatographia

Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Effectiveness and cost-effectiveness of a self-management group program to improve social participation in patients with neuromuscular disease and chronic fatigue: protocol of the Energetic study

artículo científico publicado en 2015

Effects of Mindfulness-Based Stress Reduction on the Mental Health of Clinical Clerkship Students: A Cluster-Randomized Controlled Trial

artículo científico publicado en 2017

Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial

artículo científico publicado en 2011

Effects of weakness of orofacial muscles on swallowing and communication in FSHD

scientific article published on 25 January 2019

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.

artículo científico publicado en 2018

Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1

artículo científico publicado en 2020

Employment status of patients with neuromuscular diseases in relation to personal factors, fatigue and health status: A secondary analysis

article

Enhancement of central nervous system remyelination in immune and non-immune experimental models of demyelination ⬇️

artículo científico publicado el 1 de abril de 1997

Eosinophilic fasciitis in a child mimicking a myopathy

artículo científico publicado en 2006

Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review

artículo científico publicado en 2007

Exploring employment in consultation reports of patients with neuromuscular diseases

artículo científico publicado en 2012

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

artículo científico publicado en 2018

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

artículo científico publicado en 2022

Fasciculation potentials in high-density surface EMG.

artículo científico publicado en 2007

Fast responses to stepping on an unexpected surface height depend on intact large-diameter nerve fibers: a study on Charcot-Marie-Tooth type 1A disease.

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency.

artículo científico publicado en 2004

Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness

artículo científico publicado en 2014

Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.

artículo científico publicado en 2008

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD

artículo científico publicado en 2012

Genetic defects in the hexosamine and sialic acid biosynthesis pathway.

artículo científico

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

scientific article published on 08 August 2019

Group medical appointments for people with physical illness

artículo científico publicado en 2013

Guidelines on clinical presentation and management of non-dystrophic myotonias

scientific article published on 08 April 2020

Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review

artículo científico publicado en 2019

Hearing impairment in patients with myotonic dystrophy type 2.

artículo científico publicado en 2018

Hepatitis E virus infection and acute non-traumatic neurological injury: A prospective multicentre study

artículo científico publicado en 2017

High disease impact of myotonic dystrophy type 2 on physical and mental functioning

artículo científico publicado en 2011

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

artículo científico publicado en 2014

How persons with a neuromuscular disease perceive employment participation: a qualitative study.

artículo científico publicado en 2014

Immunoglobulin treatment in epilepsy, a review of the literature ⬇️

artículo científico publicado el 1 de diciembre de 1994

Implementation of multidisciplinary advice to allied health care professionals regarding the management of their patients with neuromuscular diseases

artículo científico publicado en 2010

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

scientific article published on 12 March 2008

In vivo quantitative near-infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise

artículo científico publicado en 2002

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

artículo científico publicado en 2005

Increased fascial thickness of the deltoid muscle in dermatomyositis and polymyositis: An ultrasound study.

artículo científico publicado en 2015

Increased plasma amyloid-beta42 protein in sporadic inclusion body myositis

artículo científico publicado en 2009

Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins

artículo científico publicado en 2010

Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I.

artículo científico publicado en 2006

Insulin Signaling as a Key Moderator in Myotonic Dystrophy Type 1

artículo científico publicado en 2019

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2016

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

artículo científico publicado en 2014

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

artículo científico publicado en 2013

Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study

scientific article published on 01 November 2006

Is fatigue a disease-specific or generic symptom in chronic medical conditions?

scientific article published on 01 June 2018

KBTBD13 is an actin-binding protein that modulates muscle kinetics

scientific article published on 01 February 2020

LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy

artículo científico publicado en 2014

Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy.

artículo científico publicado en 2018

Living with myotonic dystrophy; what can be learned from couples? A qualitative study

artículo científico publicado en 2011

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

artículo científico publicado en 2004

Long-term pain, fatigue, and impairment in neuralgic amyotrophy

artículo científico publicado en 2009

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

artículo científico publicado en 2019

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

Maintaining constant voluntary force in generalized myotonia despite muscle membrane disturbances: insights from a high-density surface EMG study

scientific article published on 01 March 2004

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

artículo científico publicado en 2006

Meeting report: the 2020 FSHD International Research Congress

artículo científico publicado en 2020

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

article

Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function

artículo científico publicado en 2010

Monitoring creatine and phosphocreatine by (13)C MR spectroscopic imaging during and after (13)C4 creatine loading: a feasibility study

artículo científico publicado en 2016

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

artículo científico publicado en 2008

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

scientific article published on 08 December 2018

Muscle characteristics and altered myofascial force transmission in tenascin-X-deficient mice, a mouse model of Ehlers-Danlos syndrome

artículo científico publicado en 2010

Muscle fiber dysfunction contributes to weakness in inclusion body myositis

artículo científico publicado en 2019

Muscle ultrasonography is a potential tool for detecting fasciitis in dermatomyositis and polymyositis: comment on the article by Yoshida et al

artículo científico publicado en 2017

Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy

artículo científico publicado en 2020

Muscle-fiber conduction velocity and electromyography as diagnostic tools in patients with suspected inflammatory myopathy: a prospective study.

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

artículo científico publicado en 2016

Myositis specific autoantibodies: changing insights in pathophysiology and clinical associations.

artículo científico publicado en 2004

Myotonic discharges discriminate chloride from sodium muscle channelopathies

scientific article published on 06 October 2014

Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype

scientific article published in 2022

N-of-1 Trials: Evidence-Based Clinical Care or Medical Research that Requires IRB Approval? A Practical Flowchart Based on an Ethical Framework

artículo científico publicado en 2020

NA-CONTROL: a study protocol for a randomised controlled trial to compare specific outpatient rehabilitation that targets cerebral mechanisms through relearning motor control and uses self-management strategies to improve functional capability of th

artículo científico publicado en 2019

Na+-K+-ATPase is not involved in the warming-up phenomenon in generalized myotonia

artículo científico publicado en 2006

Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia

artículo científico publicado en 2011

Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption

artículo científico publicado en 2002

Needle electromyographic findings in 98 patients with myositis

artículo científico publicado en 2006

Neuralgic amyotrophy and hepatitis E virus infection

artículo científico publicado en 2014

Neurological picture. The astrologist's posture: a useful clinical observation

scientific article published on 15 June 2010

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

artículo científico publicado en 2012

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype ⬇️

artículo científico publicado el 1 de septiembre de 2010

No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome

artículo científico publicado en 2016

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy

artículo científico publicado en 2013

Nucleoplasmic LAP2alpha-lamin A complexes are required to maintain a proliferative state in human fibroblasts

artículo científico publicado en 2007

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

artículo científico publicado en 2003

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

artículo científico publicado en 2003

Ophthalmological findings in facioscapulohumeral dystrophy

scientific article published on 11 October 2019

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

artículo científico publicado en 2016

Overweight Is an Independent Risk Factor for Reduced Lung Volumes in Myotonic Dystrophy Type 1.

artículo científico publicado en 2016

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2019

Patients with Systemic Sclerosis/polymyositis Overlap Have a Worse Survival Rate Than Patients Without It.

artículo científico publicado en 2016

Performance of near-infrared spectroscopy in measuring local O(2) consumption and blood flow in skeletal muscle

artículo científico publicado en 2001

Permanent loss of cervical spinal cord function associated with the posterior approach

scientific article published on 01 January 2006

Persistent increased risk for thymoma in myasthenia gravis associated with myositis

scientific article published on 01 August 2006

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1

scientific article published on 08 October 2018

Polymyositis, invasion of non-necrotic muscle fibres, and the art of repetition

artículo científico publicado en 2004

Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2.

artículo científico publicado en 2010

Population-based incidence and prevalence of facioscapulohumeral dystrophy

artículo científico publicado en 2014

Postural instability in Charcot-Marie-Tooth type 1A patients is strongly associated with reduced somatosensation

artículo científico publicado en 2010

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

scientific article published on 21 January 2020

Problems of adults with a mitochondrial disease - the patients' perspective: focus on loss

artículo científico publicado en 2012

Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies

scientific article published in 2021

Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins

artículo científico publicado en 2006

Proteomics approaches to study genetic and metabolic disorders

artículo científico publicado en 2007

Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Quantitative muscle ultrasound versus quantitative magnetic resonance imaging in facioscapulohumeral dystrophy

artículo científico publicado en 2014

Rasch analysis to evaluate the motor function measure for patients with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2020

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

artículo científico publicado en 2008

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

artículo científico publicado en 2016

Reference values of maximum performance tests of speech production

artículo científico publicado en 2017

Referral of patients with neuromuscular disease to occupational therapy, physical therapy and speech therapy: Usual practice versus multidisciplinary advice

artículo científico publicado en 2007

Research priorities of patients with neuromuscular disease

artículo científico publicado en 2012

Respiratory function in facioscapulohumeral muscular dystrophy 1.

artículo científico publicado en 2017

Respiratory pattern in a FSHD pediatric population.

artículo científico publicado en 2017

Rituximab treatment in patients with refractory inflammatory myopathies

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2019

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Scleroderma-polymyositis overlap syndrome versus idiopathic polymyositis and systemic sclerosis: a descriptive study on clinical features and myopathology

artículo científico publicado en 2014

Screening for antecedent Campylobacter jejuni infections and anti-ganglioside antibodies in idiopathic neuralgic amyotrophy

artículo científico publicado en 2011

Self-management program improves participation in patients with neuromuscular disease: A randomized controlled trial

artículo científico publicado en 2019

Semi-automated Rasch analysis using in-plus-out-of-questionnaire log likelihood

artículo científico publicado en 2020

Sensorimotor axonal polyneuropathy without hepatic failure in erythropoietic protoporphyria

artículo científico publicado en 2009

Serum creatine kinase as predictor of clinical course in rhabdomyolysis: a 5-year intensive care survey

artículo científico publicado en 2003

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

artículo científico publicado en 2012

Shared medical appointments improve QOL in neuromuscular patients: a randomized controlled trial

artículo científico publicado en 2014

Short fatigue questionnaire: Screening for severe fatigue

artículo científico publicado en 2020

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

scientific article published on 01 April 2019

Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity

artículo científico publicado en 2008

Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Strength training and aerobic exercise training for muscle disease

artículo científico publicado en 2013

Strength training and aerobic exercise training for muscle disease

artículo científico publicado en 2010

Strength training and aerobic exercise training for muscle disease

scientific article published on 06 December 2019

Structural white matter networks in myotonic dystrophy type 1.

artículo científico publicado en 2018

Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy

artículo científico publicado en 2020

Symptomatic lipid storage in carriers for the PNPLA2 gene

artículo científico publicado en 2012

Symptomatic lipid storage in carriers for the PNPLA2 gene.

artículo científico publicado en 2013

TDP-43 accumulation is common in myopathies with rimmed vacuoles

scientific article published on 09 December 2008

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

artículo científico publicado en 2016

The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature

artículo científico publicado en 2015

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018

artículo científico publicado en 2019

The Radboud Dysarthria Assessment: Development and Clinimetric Evaluation

artículo científico publicado en 2018

The clinical spectrum of neuralgic amyotrophy in 246 cases

artículo científico publicado en 2005

The cognitive profile of myotonic dystrophy type 1: A systematic review and meta-analysis.

artículo científico publicado en 2017

The development of a model of fatigue in neuromuscular disorders: a longitudinal study

artículo científico publicado en 2007

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

artículo científico publicado en 2016

The individualized neuromuscular quality of life questionnaire: cultural translation and psychometric validation for the Dutch population

artículo científico publicado en 2015

The neglected brain in myotonic dystrophy types 1 and 2.

artículo científico publicado en 2010

The phenotype of the Gly94fsX222 PMP22 insertion

The wrong end of the telescope: neuromuscular mimics of movement disorders (and vice versa).

artículo científico publicado en 2016

The yield of diagnostic work-up of patients presenting with myalgia, exercise intolerance, or fatigue: A prospective observational study.

artículo científico publicado en 2016

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

scientific article published on 05 January 2012

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects

artículo científico publicado en 2006

Treatment for idiopathic and hereditary neuralgic amyotrophy (brachial neuritis)

artículo científico publicado en 2009

Treatment for idiopathic and hereditary neuralgic amyotrophy (brachial neuritis)

artículo científico publicado en 2008

Treatment of the inflammatory myopathies: update and practical recommendations

artículo científico publicado en 2009

Ultrasound: A Potential Tool for Detecting of Fasciitis in Dermatomyositis and Polymyositis

artículo científico publicado en 2018

Upregulation of Ca2+ removal in human skeletal muscle: a possible role for Ca2+-dependent priming of mitochondrial ATP synthesis.

artículo científico publicado en 2003

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

artículo científico publicado en 2016

[Light traumatic brain concussion in an older patient with oral antifibrinolytic agents].

artículo científico publicado en 2009

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