Publication Search

Please find below a list of publications which we think might be of interest to our network and the wider community. Currently, this is not a comprehensive list and we will be updating it on a regular basis.

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X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Published: November 2019
Journal: Genes
Disease: Emery–Dreifuss muscular dystrophy
Type of publication: Academic publication

DOI: 10.3390/genes10110919

Cross-border telemedicine: practices and challenges

Published: October 2019
Journal: European Social Observatory
Disease: Neuromuscular disease
Type of publication: Academic publication

Link: www.ose.be

Myalgia in myositis and myopathies

Published: October 2019
Journal: Best Practice & Research Clinical Rheumatology
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1016/j.berh.2019.101433

Policies and actions to tackle rare diseases at European level

Published: October 2019
Journal: Ann Ist Super Sanità 2019
Disease: Neuromuscular disease
Type of publication:

DOI: 10.4415/ANN_19_03_17

MYO-MRI Diagnostic Protocols in Genetic Myopathies

Published: September 2019
Journal: Neuromuscular Disorders
Disease: Neuromuscular disease
Type of publication: Imaging/mRI

DOI: 10.1016/j.nmd.2019.08.011

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data

Published: September 2019
Journal: Annals of Neurology
Disease: Spinal muscular atrophy
Type of publication: Academic publication

DOI: 10.1002/ana.25533

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

Published: August 2019
Journal: Stem Cell Research
Disease: Facioscapulohumeral muscular dystrophy
Type of publication: Academic publication

DOI: doi.org/10.1016/j.scr.2019.101560

Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy

Published: August 2019
Journal: Orphanet j Rare Dis
Disease: Duchenne muscular dystrophy
Type of publication: Academic publication

DOI: 10.1186/s13023-019-1173-7

PAB Position Letter - Call for Proposal on Registries Dedicated to ERNs

Published: July 2019
Disease: Neuromuscular disease
Type of publication: Position Paper

Link: Download Position Paper

Intravenous immunoglobulin to prevent myasthenic crisis after thymectomy and other procedures can be omitted in patients with well-controlled myasthenia gravis

Published: July 2019
Journal: Therapeutic Advances in Neurological Disorders
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Academic publication

DOI: 10.1177/1756286419864497

Strategies to improve the quality of reference networks for rare diseases

Published: March 2019
Journal: Translational Science of Rare Diseases
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.3233/TRD-190032

237th ENMC International Workshop: GNE myopathy current and future research Hoofdorp, The Netherlands, 14 – 16 September 2018

Published: March 2019
Journal: Neuromuscular Disorders
Disease: GNE myopathy / HIBM
Type of publication: Academic publication, Care, Clinical research, Clinical trial readiness, Guidelines, Workshop report

DOI: 10.1016/j.nmd.2019.02.010

A unique e-health and telemedicine implementation: European Reference Networks for rare diseases

Published: March 2019
Journal: Journal of Public Health
Disease: Neuromuscular disease
Type of publication: Academic publication, Clinical research, Diagnosis, Treatment guidelines

DOI: 10.1007/s10389-019-01052-w

Idiopathic inflammatory myopathies: narrative review of unmet needs in clinical practice guidelines

Published: February 2019
Journal: RMD Open
Disease: Idiopathic inflammatory myopathies
Type of publication: Academic publication

DOI: 10.1136/rmdopen-2018-000784

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

Published: January 2019
Journal: Journal of Neuromuscular Diseases
Disease: Neuromuscular disease
Type of publication: Meeting report, Workshop report

DOI: 10.3233/JND-180368

Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease

Published: January 2019
Journal: Journal of Neuromuscular Disorders
Disease: Neuromuscular disease
Type of publication: Imaging/mRI, Standard Operating Procedures

DOI: 10.3233/JND-180333

Recommended Standards for Muscle Biopsies

Published: January 2019
Journal: EURO-NMD Publication
Disease: Neuromuscular disease
Type of publication: Clinical research, Guidelines, Pathology, Standard Operating Procedures

Link: Recomended Standards for Muscle Biopsies

Disease duration and disability in dysfelinopathy can be described by muscle imaging using heatmaps and random forests

Published: December 2018
Journal: Muscle & Nerve
Disease: Limb girdle muscular dystrophy 2b
Type of publication: Academic publication

DOI: 10.1002/mus.26403

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Published: October 2018
Journal: Orphanet Journal of Rare Diseases
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1186/s13023-018-0918-z

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Published: May 2018
Journal: Neuromuscular Disorders
Disease: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2i, Limb girdle muscular dystrophy 2k, Limb girdle muscular dystrophy 2m, Limb girdle muscular dystrophy 2n, Limb girdle muscular dystrophy 2o
Type of publication: Workshop report

DOI: 10.1016/j.nmd.2018.05.007

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Published: March 2018
Journal: Neuromuscular Disorders
Disease: Motor neuron disease, Spinal muscular atrophy
Type of publication: Care, Guidelines, Treatment guidelines

DOI: 10.1016/j.nmd.2017.11.004

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Published: February 2018
Journal: Neuromuscular Disorders
Disease: Motor neuron disease, Spinal muscular atrophy
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1016/j.nmd.2017.11.005

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Published: January 2018
Journal: Lancet Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Care, Guidelines

DOI: 10.1016/S1474-4422(18)30025-5

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan

Published: January 2018
Journal: Lancet Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Care, Guidelines

DOI: 10.1016/S1474-4422(18)30026-7

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Published: January 2018
Journal: Lancet Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1016/S1474-4422(18)30024-3

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Published: January 2018
Journal: Lancet Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1016/S1474-4422(18)30025-5

Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations

Published: December 2017
Journal: Neuromuscular Disorders
Disease: Mitochondrial disease
Type of publication: Guidelines, Outcome measures, Workshop report

DOI: doi.org/10.1016/j.nmd.2017.08.006

221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease

Published: December 2017
Journal: Neuromuscular Disorders
Disease: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies
Type of publication: Workshop report

DOI: 10.1016/j.nmd.2017.09.005

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations

Published: December 2017
Journal: Neuromuscular Disorders
Disease: Mitochondrial disease
Type of publication: Clinical trial readiness, Guidelines, Outcome measures

DOI: 10.1016/j.nmd.2017.08.006

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Published: November 2017
Journal: Neuromuscular Disorders
Disease: Spinal muscular atrophy
Type of publication: Care, Guidelines

DOI: 10.1016/j.nmd.2017.11.005

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Published: November 2017
Journal: Neuromuscular Disorders
Disease: Spinal muscular atrophy
Type of publication: Care, Guidelines

DOI: 10.1016/j.nmd.2017.11.004

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Published: October 2017
Journal: Genetics in Medicine
Disease: Mitochondrial disease
Type of publication: Diagnosis, Guidelines

DOI: 10.1038/gim.2017.125

Myasthenia gravis: new developments in research and treatment

Published: October 2017
Journal: Current Opinion in Neurology
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Care, Clinical research, Guidelines

DOI: 10.1097/WCO.0000000000000473

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Published: September 2017
Journal: Journal of Neurology, Neurosurgery & Pyschiatry
Disease: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies
Type of publication: Diagnosis, Guidelines

DOI: 10.1136/jnnp-2016-313960

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Published: August 2017
Journal: Circulation
Disease: Neuromuscular disease
Type of publication: Guidelines, Treatment guidelines

DOI: 10.1161/CIR.0000000000000526

Patient Care Standards for Primary Mitochondrial Disease: A Consensus Statement from the Mitochondrial Medicine Society

Published: July 2017
Journal: Genetics in Medicine
Disease: Mitochondrial disease
Type of publication: Care, Guidelines

DOI: 10.1038/gim.2017.107

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Published: July 2017
Journal: Genetics in Medicine
Disease: Mitochondrial disease
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1038/gim.2017.107

Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy

Published: June 2017
Journal: Journal of Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Imaging/mRI, Standard Operating Procedures

DOI: 10.1007/s00415-017-8547-3

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

Published: May 2017
Journal: European Journal of Neurology
Disease: Pompe disease
Type of publication: Guidelines, Treatment guidelines

DOI: 10.1111/ene.13285

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Published: May 2017
Journal: Journal of Inherited Metabolic Disease
Disease: Mitochondrial disease
Type of publication: Clinical research, Guidelines

DOI: 10.1007/s10545-017-0035-5

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Published: March 2017
Journal: Journal of Inherited Metabolic Disease
Disease: Mitochondrial disease
Type of publication: Clinical research, Guidelines

DOI: 10.1007/s10545-017-0035-5

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society

Published: August 2016
Journal: Journal of Neurology
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Care, Guidelines

DOI: 10.1007/s00415-016-8045-z

International consensus guidance for management of myasthenia gravis: Executive summary

Published: July 2016
Journal: Neurology
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Care, Guidelines

DOI: 10.1212/WNL.0000000000002790

Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials

Published: March 2016
Journal: Journal of Neuromuscular Diseases
Disease: Becker muscular dystrophy, Duchenne muscular dystrophy
Type of publication: Imaging/mRI, Standard Operating Procedures

DOI: 10.3233/JND-160145

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

Published: February 2016
Journal: Curr Opin Neurol
Disease: ATTR-related neuropathy
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1097/WCO.0000000000000289

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

Published: February 2016
Journal: Curr Opin Neurol
Disease: ATTR-related neuropathy
Type of publication: Care, Guidelines

DOI: 10.1097/WCO.0000000000000290

Motor Neurone Disease: Assessment and Management

Published: February 2016
Journal: Nice Guidelines
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Diagnosis, Guidelines, Treatment guidelines

Link: www.nice.org.uk/guidance

Motor neurone disease: assessment and management

Published: February 2016
Journal: NICE Guidelines
Disease: Amyotrophic lateral sclerosis, Motor neuron disease
Type of publication: Care, Diagnosis, Guidelines

Link: www.nice.org.uk

Myasthenia gravis: Association of British Neurologists' management guidelines

Published: June 2015
Journal: Practical Neurology
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Care, Guidelines

DOI: 10.1136/practneurol-2015-001126

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Published: October 2014
Journal: Neurology
Disease: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2i, Limb girdle muscular dystrophy 2k, Limb girdle muscular dystrophy 2m, Limb girdle muscular dystrophy 2n, Limb girdle muscular dystrophy 2o
Type of publication: Care, Diagnosis, Guidelines, Treatment guidelines

DOI: 10.1212/WNL.0000000000000892

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies

Published: October 2014
Journal: Neurology
Disease: Limb girdle muscular dystrophy
Type of publication: Diagnosis, Guidelines

DOI: 10.1212/WNL.0000000000000892

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

Published: September 2013
Journal: Nature Reviews Neurology
Disease: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies
Type of publication: Clinical research, Guidelines

DOI: 10.1038/nrneurol.2013.179

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

Published: May 2012
Journal: European Journal of Human Genetics
Disease: Myotonic dystrophy, Myotonic dystrophy type 1, Myotonic dystrophy type 2
Type of publication: Diagnosis, Guidelines

DOI: 10.1038/ejhg.2012.108

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

Published: May 2012
Journal: European Journal of Human Genetics
Disease: Myotonic dystrophy, Myotonic dystrophy type 1, Myotonic dystrophy type 2
Type of publication: Diagnosis, Guidelines

DOI: 10.1038/ejhg.2012.108

EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force

Published: March 2012
Journal: European Journal of Neurology
Disease: Amyotrophic lateral sclerosis, Motor neuron disease
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1111/j.1468-1331.2011.03501.x

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

Published: February 2012
Journal: European Journal of Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Guidelines

DOI: 10.1111/j.1468-1331.2011.03501.x

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

Published: January 2011
Journal: Annals of Neurology
Disease: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies
Type of publication: Diagnosis, Guidelines

DOI: 10.1002/ana.22166

Evidence-based guideline update: Plasmapheresis in neurologic disorders

Published: January 2011
Journal: Neurology
Disease: Guillain-Barré syndrome
Type of publication: Guidelines, Treatment guidelines

DOI: 10.1212/WNL.0b013e318207b1f6

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

Published: January 2011
Journal: European Journal of Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Diagnosis, Guidelines

DOI: 10.1111/j.1468-1331.2010.03069.x

Guillain-Barré syndrome and Fisher syndrome: case definitions and guidelines for collection, analysis, and presentation of immunization safety data

Published: January 2011
Journal: Vaccine
Disease: Guillain-Barré syndrome
Type of publication: Care, Guidelines

DOI: 10.1016/j.vaccine.2010.06.003

Peripheral Nerve Society Guideline on the classification, diagnosis, investigation, and immunosuppressive therapy of non-systemic vasculitic neuropathy: executive summary.

Published: October 2010
Journal: Journal of the Peripheral Nervous System
Disease: Vasculitic neuropathy
Type of publication: Care, Guidelines

DOI: 10.1111/j.1529-8027.2010.00281.x

European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy

Published: February 2010
Journal: European Journal of Neurology
Disease: Chronic inflammatory demyelinating polyneuropath
Type of publication: Care, Guidelines

DOI: 10.1111/j.1468-1331.2009.02930.x

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

Published: November 2009
Journal: European Journal of Neurology
Disease: Mitochondrial disease
Type of publication: Diagnosis, Guidelines

DOI: 10.1111/j.1468-1331.2009.02811.x

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

Published: November 2007
Journal: European Journal of Neurology
Disease: Limb girdle muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1111/j.1468-1331.2007.01979.x

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

Published: November 2007
Journal: European Journal of Neurology
Disease: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2i, Limb girdle muscular dystrophy 2k, Limb girdle muscular dystrophy 2m, Limb girdle muscular dystrophy 2n, Limb girdle muscular dystrophy 2o
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1111/j.1468-1331.2007.01979.x

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives

Published: December 2005
Journal: European Journal of Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Guidelines

DOI: 10.1111/j.1468-1331.2005.01351.x

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission


“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern