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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Recommendations for whole genome sequencing in diagnostics for rare diseases

Published: May 2022
Journal: Nature
Disease:
Type of publication: Academic publication, Consensus-based statements, Diagnosis, Guidelines, Position Paper, Workshop report

DOI: 10.1038/s41431-022-01113-x
Link: Read here

Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1

Published: February 2022
Journal: Neuromuscular Disorders
Disease: Myotonic dystrophy type 1
Type of publication: Academic publication

DOI: https://doi.org/10.1016/j.nmd.2022.02.003

CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.

Published: December 2021
Journal: J Neurol Sci
Disease: Congenital muscular dystrophy
Type of publication: Academic publication

DOI: 10.1016/j.jns.2021.120047
Link: Read here

Determination of Tafamidis Plasma Concentrations in Amyloidosis Patients with Glu89Gln Mutation by HPLC-UV Detection.

Published: December 2021
Journal: Journal of chromatographic science
Disease: Neuromuscular disease,
Type of publication: Academic publication

DOI: 10.1093/chromsci/bmab132
Link: Read here

WMS Covid-19 Update

Published: December 2021
Disease: Neuromuscular disease
Type of publication: COVID-19, Care, Guidelines

Link: Click here to read the document

Returning individual clinical trial data back to participants

Published: March 2021
Disease: Neuromuscular disease
Type of publication: Position Paper

Link: Read paper here

Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

Published: January 2021
Journal: Orphanet Journal of Rare Disease
Disease: Neuromuscular disease
Type of publication: Academic publication, Diagnosis, Position Paper

DOI: 10.21203/rs.3.rs-64046/v1
Link: Click here to read the document

Reliability and agreement of a dynamic quadriceps incremental test for the assessment of neuromuscular function

Published: November 2020
Journal: Journal of Electromyography and Kinesiology
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1016/j.jelekin.2020.102503

Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies

Published: November 2020
Journal: Pharmaceutics
Disease: Mitochondrial disease
Type of publication: Academic publication

DOI: 10.3390/pharmaceutics12111083

A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging

Published: November 2020
Journal: European Journal of Neurology
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1111/ene.14630

International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update

Published: November 2020
Journal: Neurology
Disease: Myasthenia Gravis
Type of publication: Academic publication, Guidelines

DOI: 10.1212/WNL.0000000000011124

Seizure-related 6 homolog like 2 autoimmunity - Neurologic syndrome and antibody effects

Published: November 2020
Journal: Neurology - Neuroimmunology & Neuroinflammation
Disease: Neuromuscular disease
Type of publication: Academic publication

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Published: October 2020
Journal: The EMBO Journal
Disease: Neuromuscular disease, Mitochondrial disease
Type of publication: Academic publication

DOI: 10.15252/embj.2020105364

Assessment of respiratory muscles and motor function in children with SMA treated by Nusinersen

Published: October 2020
Journal: Pediatric Pulmonology
Disease: Spinal muscular atrophy
Type of publication: Academic publication

DOI: 10.1002/ppul.25142

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

Published: October 2020
Journal: Brain Sciences
Disease: ATTR-related neuropathy, Neuromuscular disease
Type of publication: Academic publication

DOI: 10.3390/brainsci10110780

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

Published: October 2020
Journal: Rheumatology
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1093/rheumatology/keaa459

Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD)

Published: October 2020
Journal: Neurological Sciences
Disease: Pompe disease
Type of publication: Academic publication

DOI: 10.1007/s10072-020-04819-2

Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients

Published: October 2020
Journal: Scientific Reports
Disease: Facioscapulohumeral muscular dystrophy
Type of publication: Academic publication

DOI: 10.1038/s41598-020-74687-5

Sleep-disordered breathing in adult patients with mitochondrial diseases

Published: October 2020
Journal: Neurology
Disease: Mitochondrial disease
Type of publication: Academic publication

DOI: 10.1212/WNL.0000000000011005

252nd ENMC international workshop: Developing best practice guidelines for management of mouthpiece ventilation in neuromuscular disorders. March 6th to 8th 2020, Amsterdam, the Netherlands

Published: September 2020
Journal: Neuromuscular Disorders
Disease: Neuromuscular disease
Type of publication: Academic publication, Position Paper, Workshop report

DOI: 10.1016/j.nmd.2020.07.008
Link: Read here

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: a European survey study.

Published: September 2020
Journal: PLOS ONE
Disease: Duchenne muscular dystrophy, Limb girdle muscular dystrophy, Neuromuscular disease, Pompe disease, Spinal muscular atrophy
Type of publication: Academic publication

DOI: 10.1371/journal.pone.0239329

Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4

Published: September 2020
Journal: Journal of Neurology
Disease: Spinal muscular atrophy
Type of publication: Academic publication

DOI: 10.1007/s00415-020-10223-9

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients

Published: September 2020
Journal: Orphanet Journal of Rare Diseases
Disease: Pompe disease
Type of publication: Academic publication

DOI: 10.1186/s13023-020-01482-w

ACEIs, ARBs, ibuprofen originally linked to COVID-19: the other side of the mirror

Published: September 2020
Journal: Inflammopharmacology
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1007/s10787-020-00755-x

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

Published: September 2020
Journal: Journal of Neurology, Neurosurgery & Psychiatry
Disease: Spinal muscular atrophy
Type of publication: Academic publication

DOI: 10.1136/jnnp-2020-324036

International Networking in Myology

Published: September 2020
Journal: QScience
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.5339/qproc.2020.NMD.13

Impact and Management of Dysphagia in Inflammatory Myopathies

Published: August 2020
Journal: Inflammatory Muscle Disease
Disease: Inclusion body myositis
Type of publication: Academic publication

DOI: 10.1007/s11926-020-00950-3

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Published: August 2020
Journal: Orphanet Journal of Rare Diseases
Disease: Neuromuscular disease, Rare neurological disorders
Type of publication: Academic publication

DOI: 10.1186/s13023-020-01493-7

Retinal and brain damage during multiple sclerosis course: inflammatory activity is a key factor in the first 5 years

Published: August 2020
Journal: Scientific reports
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1038/s41598-020-70255-z

Multi‐parametric MR in Becker muscular dystrophy patients

Published: August 2020
Journal: NMR in Biomedicine
Disease: Becker muscular dystrophy
Type of publication: Academic publication

DOI: 10.1002/nbm.4385

Plectin‐related scapuloperoneal myopathy with treatment‐responsive myasthenic syndrome

Published: August 2020
Journal: Neuropathology and Applied Neurobiology
Disease: Myasthenia Gravis
Type of publication: Academic publication

DOI: 10.1111/nan.12652

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

Published: July 2020
Journal: European Journal of Paediatric Neurology
Disease: Spinal muscular atrophy
Type of publication: Academic publication

DOI: 10.1016/j.ejpn.2020.07.001

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus

Published: July 2020
Journal: J Inherit Metab Dis
Disease: Mitochondrial disease
Type of publication: An international Delphi-based consensus

DOI: 10.1002/jimd.12196

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

Published: June 2020
Journal: Journal of Neuropathology & Experimental Neurology
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1093/jnen/nlaa052

Transthyretin amyloidosis: Testing strategies and model for center of excellence support

Published: June 2020
Journal: Clinica Chimica Acta
Disease: ATTR-related neuropathy
Type of publication: Academic publication

DOI: 10.1016/j.cca.2020.06.029

Telemedicine is a useful tool to deliver care to patients with Amyotrophic Lateral Sclerosis during COVID-19 pandemic: results from Southern Italy

Published: June 2020
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Disease: Amyotrophic lateral sclerosis
Type of publication: Academic publication

DOI: 10.1080/21678421.2020.1773502

The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis

Published: June 2020
Journal: Journal of Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Academic publication

DOI: 10.1007/s00415-020-09993-z

Validation of the Italian version of the Charcot‐Marie‐Tooth Health Index

Published: June 2020
Journal: Journal of the Peripheral Nervous System
Disease: Charcot Marie Tooth
Type of publication: Academic publication

DOI: 10.1111/jns.12397

An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients

Published: May 2020
Journal: Frontiers in Neurology
Disease: Neuromuscular disease
Type of publication: Academic publication, COVID-19

DOI: 10.3389/fneur.2020.00564

Macular impairment in mitochondrial diseases: a potential biomarker of disease severity

Published: May 2020
Journal: Scientific reports
Disease: Mitochondrial disease
Type of publication: Academic publication

DOI: 10.1038/s41598-020-65482-3

EMQN best practice guidelines for genetic testing in dystrophinopathies

Published: May 2020
Journal: European Journal of Human Genetics
Disease: Becker muscular dystrophy, Duchenne muscular dystrophy
Type of publication: Academic publication, Clinical trial readiness, Guidelines

DOI: 10.1038/s41431-020-0643-7

Neuromuscular diseases and Covid-19: Advices from scientific societies and early observations in Italy

Published: May 2020
Journal: European Journal of Translational Myology
Disease: Neuromuscular disease
Type of publication: Academic publication

Link: Access the article here

MCT8 Deficiency: The Road to Therapies for a Rare Disease

Published: April 2020
Journal: Frontiers in Neuroscience
Disease:
Type of publication: Academic publication

DOI: 10.3389/fnins.2020.00380

The North American mitochondrial disease registry

Published: April 2020
Journal: Journal of Translational Genetics and Genomics
Disease: Mitochondrial disease
Type of publication: Academic publication

DOI: 10.20517/jtgg.2020.12

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

Published: April 2020
Journal: Cells
Disease: Charcot Marie Tooth
Type of publication: Academic publication

DOI: 10.3390/cells9041028

Teaching Video NeuroImages: Palatal tremor associated with SPG7 variants

Published: April 2020
Journal: Neurology
Disease: Amyotrophic lateral sclerosis, Neuromuscular disease
Type of publication:

DOI: 10.1212/WNL.0000000000009409

Boosting delivery of rare disease therapies: the IRDiRC Orphan Drug Development Guidebook

Published: April 2020
Journal: Nature Reviews Drug Discovery
Disease:
Type of publication: Academic publication

DOI: 10.1038/d41573-020-00060-w

T2 relaxation-time mapping in healthy and diseased skeletal muscle using extended phase graph algorithms

Published: April 2020
Journal: Magnetic Resonance in Medicine
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1002/mrm.28290

Guidelines COVID-19 - Orthopaedic physiotherapy Tutorial for caregivers

Published: April 2020
Disease: Neuromuscular disease
Type of publication: COVID-19, Guidelines

Link: Download a PDF of these guidelines

Guidelines COVID-19 - Respiratory Therapy Clearing secretions Tutorial for caregivers

Published: April 2020
Disease: Neuromuscular disease
Type of publication: COVID-19, Guidelines

Link: Download a PDF of these guidelines

Guidelines COVID-19 - For caregivers at home

Published: April 2020
Disease: Neuromuscular disease
Type of publication: COVID-19, Guidelines

Link: Download a PDF of these guidelines

Guidelines COVID-19 - For Wheelchair Users

Published: April 2020
Disease: Neuromuscular disease
Type of publication: COVID-19, Guidelines

Link: Download a PDF of these guidelines

Renin–Angiotensin–Aldosterone System Inhibitors in Patients with Covid-19

Published: April 2020
Journal: The New England Journal of Medicine
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1056/NEJMsr2005760

Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis

Published: March 2020
Disease: Inclusion body myositis
Type of publication: Academic publication

Link: Link to PDF

Guidance for the management of Myasthenia Gravis (MG) and Lambert-Eaton Myasthenic Syndrome (LEMS) during the COVID-19 pandemic

Published: March 2020
Disease: Lambert-Eaton Myasthenic Syndrome, Myasethenia gravis
Type of publication: Guidelines, Pathology

Link: Download a PDF of the guidance document

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels

Published: March 2020
Journal: ACTA MYOLOGICA
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.36185/2532-1900-007

Long-term human IgG treatment improves heart and muscle function in a mouse model of Duchenne muscular dystrophy

Published: February 2020
Journal: Journal of Cachexia, Sarcopenia and Muscle
Disease: Duchenne muscular dystrophy
Type of publication: Academic publication

DOI: 10.1002/jcsm.12569

239th ENMC International Workshop: Classification of dermatomyositis.

Published: January 2020
Journal: Neuromuscular Disorders
Disease:
Type of publication: Academic publication, Position Paper, Workshop report

DOI: 10.1016/j.nmd.2019.10.005

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

Published: January 2020
Journal: Biomedicines
Disease: Spinal muscular atrophy
Type of publication: Academic publication

DOI: 10.3390/biomedicines8020021

New insights into the treatment of myositis

Published: January 2020
Journal: Therapeutic Advances in Musculoskeletal Disease
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1177/1759720X19886494

European Reference Network for Rare Neuromuscular Diseases (EURO-NMD). The history behind its constitution and the first steps

Published: December 2019
Journal: Med Sci (Paris)
Disease: Neuromuscular disease
Type of publication: Academic publication

DOI: 10.1051/medsci/2019180

Consensus-based statements for the management of mitochondrial stroke-like episodes

Published: December 2019
Journal: Wellcome Open Res
Disease: Mitochondrial disease
Type of publication: Academic publication, Guidelines, Pathology

DOI: 10.12688/wellcomeopenres.15599.1

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

Permutation Entropy and Irreversibility in Gait Kinematic Time Series from Patients with Mild Cognitive Decline and Early Alzheimer’s Dementia

Published: September 2019
Journal: Entropy
Disease:
Type of publication:

DOI: 10.3390/e21090868

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

243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease

Published: September 2019
Journal: Neuromuscular Disorders
Disease: Mitochondrial disease
Type of publication: Academic publication

DOI: 10.1016/j.nmd.2019.08.004

238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018

Published: August 2019
Journal: Neuromuscular Disorders
Disease: Duchenne muscular dystrophy
Type of publication: Academic publication, Workshop report

DOI: 10.1016/j.nmd.2019.06.598
Link: Read here

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

Consensus-based care recommendations for adults with myotonic dystrophy type 2

Published: August 2019
Journal: Neurol Clin Pract
Disease: Myotonic dystrophy type 2
Type of publication: Care, Consensus-based statements

DOI: 10.1212/CPJ.0000000000000645
Link: Read here

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Published: July 2019
Journal: Circulation
Disease: Limb girdle muscular dystrophy,
Type of publication: Academic publication, Care, Natural History/Outcome Measures

DOI: 10.1161/CIRCULATIONAHA.118.039410
Link: Read here

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

Recommended Standards for Muscle Pathology

Published: March 2019
Journal: Neuromuscular Disorders
Disease: Neuromuscular disease
Type of publication: Clinical research, Guidelines, Pathology, Standard Operating Procedures

DOI: https://doi.org/10.1016/j.nmd.2019.03.002
Link: Recomended Standards for Muscle Pathology

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

Published: March 2019
Journal: Neuromuscular Disorders
Disease: Neuromuscular disease
Type of publication: Academic publication, Guidelines, Meeting report, Pathology, Standard Operating Procedures

DOI: https://doi.org/10.1016/j.nmd.2019.03.002

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

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Published: January 2019
Journal: Neurology
Disease: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2b
Type of publication: Academic publication, Natural History/Outcome Measures

DOI: 10.1212/WNL.0000000000006858
Link: Read here

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

Lower Extremity Functional Outcome Measures in Duchenne Muscular Dystrophy-A Delphi Survey

Published: December 2018
Journal: J Neuromuscul Dis
Disease:
Type of publication: An international Delphi-based consensus

DOI: 10.3233/JND-180337
Link: Read here

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

Published: December 2018
Journal: Neurol Clin Pract
Disease:
Type of publication: Care, Consensus-based statements

DOI: 10.1212/CPJ.0000000000000531
Link: Read here

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

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

Published: July 2018
Journal: J Inherit Metab Dis
Disease: Mitochondrial disease
Type of publication: An international Delphi-based consensus

DOI: 10.1007/s10545-018-0229-5

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 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, 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, 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

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: 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

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy

Published: September 2017
Journal: Neuromuscular Disorders
Disease: Mitochondrial disease
Type of publication: An international Delphi-based consensus

DOI: 10.1016/j.nmd.2017.08.006

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, Diagnosis, 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, 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: Consensus-based statements

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

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Published: July 2015
Journal: Neurology
Disease: Facioscapulohumeral muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines, Treatment guidelines

DOI: 10.1212/WNL.0000000000001783

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: evaluation, diagnosis, and management of congenital muscular dystrophy: 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: March 2015
Journal: Neurology
Disease: Congenital muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines

DOI: 10.1212/WNL.0000000000001416

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy. 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: March 2015
Journal: Neurology
Disease: Congenital muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines, Treatment guidelines

DOI: 10.1212/WNL.0000000000001416

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

Awaji Criteria for the Diagnosis of Amyotrophic Lateral Sclerosis

Published: November 2012
Journal: Archives of Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Guidelines

DOI: 10.1001/archneurol.2012.254

Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: Consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1–2 October 2009, Paris, France

Published: October 2012
Journal: Neuromuscular Disorders
Disease: Pompe disease
Type of publication: Imaging/mRI, Standard Operating Procedures

DOI: 10.1016/j.nmd.2012.06.005

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

Evidence-based guideline: intravenous immunoglobulin in the treatment of neuromuscular disorders: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology

Published: March 2012
Journal: Neurology
Disease: Neuromuscular disease
Type of publication: Treatment guidelines

DOI: 10.1212/WNL.0b013e31824de293

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

European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society

Published: December 2010
Journal: Journal of the Peripheral Nervous System
Disease: Multifocal motor neuropathy
Type of publication: Care, Guidelines

DOI: 10.1111/j.1529-8027.2010.00290.x

European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of paraproteinemic demyelinating neuropathies. Report of a Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society

Published: October 2010
Journal: Journal of the Peripheral Nervous System
Disease: Paraproteinemic demyelinating neuropathies
Type of publication: Care, Guidelines

DOI: 10.1111/j.1529-8027.2010.00278.x

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

Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.

Published: October 2009
Journal: Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Guidelines

DOI: 10.1212/WNL.0b013e3181bc01a4

Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.

Published: October 2009
Journal: Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Guidelines

DOI: 10.1212/WNL.0b013e3181bc0141

Electrodiagnostic criteria for diagnosis of ALS

Published: March 2008
Journal: Clinical Neurophysiology
Disease: Amyotrophic lateral sclerosis
Type of publication: Guidelines

DOI: https://doi.org/10.1016/j.clinph.2007.09.143

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“