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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Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease.

Published: October 2022
Journal: Journal of Translational Genetics and Genomics
Disease: ,
Type of publication:

DOI: https://dx.doi.org/10.20517/jtgg.2022.04

Recommendations for whole genome sequencing in diagnostics for rare diseases

Published: May 2022
Journal: Nature
Disease:
Type of publication:

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:
Type of 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:
Type of 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:
Type of publication:

DOI: 10.1093/chromsci/bmab132
Link: Read here

WMS Covid-19 Update

Published: December 2021
Disease:
Type of publication:

Link: Click here to read the document

Returning individual clinical trial data back to participants

Published: March 2021
Disease:
Type of publication:

Link: Read paper here

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:
Type of publication:

DOI: 10.1016/j.jelekin.2020.102503

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:
Type of publication:

DOI: 10.1111/ene.14630

International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update

Published: November 2020
Journal: Neurology
Disease:
Type of publication:

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:
Type of publication:

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Published: October 2020
Journal: The EMBO Journal
Disease:
Type of 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:
Type of publication:

DOI: 10.1002/ppul.25142

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

Published: October 2020
Journal: Brain Sciences
Disease:
Type of publication:

DOI: 10.3390/brainsci10110780

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

Published: October 2020
Journal: Neurological Sciences
Disease:
Type of 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:
Type of publication:

DOI: 10.1038/s41598-020-74687-5

Sleep-disordered breathing in adult patients with mitochondrial diseases

Published: October 2020
Journal: Neurology
Disease:
Type of publication:

DOI: 10.1212/WNL.0000000000011005

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:
Type of 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:
Type of 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:
Type of publication:

DOI: 10.1136/jnnp-2020-324036

International Networking in Myology

Published: September 2020
Journal: QScience
Disease:
Type of publication:

DOI: 10.5339/qproc.2020.NMD.13

Impact and Management of Dysphagia in Inflammatory Myopathies

Published: August 2020
Journal: Inflammatory Muscle Disease
Disease:
Type of 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:
Type of publication:

DOI: 10.1186/s13023-020-01493-7

Multi‐parametric MR in Becker muscular dystrophy patients

Published: August 2020
Journal: NMR in Biomedicine
Disease:
Type of publication:

DOI: 10.1002/nbm.4385

Plectin‐related scapuloperoneal myopathy with treatment‐responsive myasthenic syndrome

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

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:
Type of 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:
Type of 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:
Type of 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:
Type of 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:
Type of 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:
Type of publication:

DOI: 10.3389/fneur.2020.00564

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

Published: May 2020
Journal: Scientific reports
Disease:
Type of 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:
Type of publication:

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:
Type of 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:

DOI: 10.3389/fnins.2020.00380

The North American mitochondrial disease registry

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

DOI: 10.20517/jtgg.2020.12

Teaching Video NeuroImages: Palatal tremor associated with SPG7 variants

Published: April 2020
Journal: Neurology
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:

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:
Type of publication:

DOI: 10.1002/mrm.28290

Guidelines COVID-19 - For caregivers at home

Published: April 2020
Disease:
Type of publication:

Link: Download a PDF of these guidelines

Guidelines COVID-19 - For Wheelchair Users

Published: April 2020
Disease:
Type of publication:

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:
Type of publication:

DOI: 10.1056/NEJMsr2005760

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:
Type of publication:

DOI: 10.1002/jcsm.12569

239th ENMC International Workshop: Classification of dermatomyositis.

Published: January 2020
Journal: Neuromuscular Disorders
Disease:
Type of publication:

DOI: 10.1016/j.nmd.2019.10.005

New insights into the treatment of myositis

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

DOI: 10.1177/1759720X19886494

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

Published: December 2019
Journal: Wellcome Open Res
Disease:
Type of publication:

DOI: 10.12688/wellcomeopenres.15599.1

Cross-border telemedicine: practices and challenges

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

Link: www.ose.be

Myalgia in myositis and myopathies

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

DOI: 10.4415/ANN_19_03_17

MYO-MRI Diagnostic Protocols in Genetic Myopathies

Published: September 2019
Journal: Neuromuscular Disorders
Disease:
Type of publication:

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:
Type of publication:

DOI: 10.1002/ana.25533

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

Published: August 2019
Journal: Neurol Clin Pract
Disease:
Type of publication:

DOI: 10.1212/CPJ.0000000000000645
Link: Read here

Strategies to improve the quality of reference networks for rare diseases

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

DOI: 10.3233/TRD-190032

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

Published: March 2019
Journal: Journal of Public Health
Disease:
Type of publication:

DOI: 10.1007/s10389-019-01052-w

Recommended Standards for Muscle Pathology

Published: March 2019
Journal: Neuromuscular Disorders
Disease:
Type of publication:

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

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:
Type of publication:

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:
Type of publication:

DOI: 10.3233/JND-180333

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

Published: January 2019
Journal: Neurology
Disease:
Type of publication:

DOI: 10.1212/WNL.0000000000006858
Link: Read here

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

Published: December 2018
Journal: J Neuromuscul Dis
Disease:
Type of publication:

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:

DOI: 10.1212/CPJ.0000000000000531
Link: Read here

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

Published: December 2017
Journal: Neuromuscular Disorders
Disease:
Type of publication: Standard Operation Procedure

DOI: 10.1016/j.nmd.2017.09.005

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Published: October 2017
Journal: Genetics in Medicine
Disease:
Type of publication:

DOI: 10.1038/gim.2017.125

Myasthenia gravis: new developments in research and treatment

Published: October 2017
Journal: Current Opinion in Neurology
Disease:
Type of publication:

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:
Type of publication:

DOI: 10.1136/jnnp-2016-313960

Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy

Published: June 2017
Journal: Journal of Neurology
Disease:
Type of publication:

DOI: 10.1007/s00415-017-8547-3

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:
Type of publication:

DOI: 10.3233/JND-160145

Motor Neurone Disease: Assessment and Management

Published: February 2016
Journal: Nice Guidelines
Disease:
Type of publication:

Link: www.nice.org.uk/guidance

Motor neurone disease: assessment and management

Published: February 2016
Journal: NICE Guidelines
Disease:
Type of publication:

Link: www.nice.org.uk

Myasthenia gravis: Association of British Neurologists' management guidelines

Published: June 2015
Journal: Practical Neurology
Disease:
Type of publication:

DOI: 10.1136/practneurol-2015-001126

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

Published: September 2013
Journal: Nature Reviews Neurology
Disease:
Type of publication:

DOI: 10.1038/nrneurol.2013.179

Awaji Criteria for the Diagnosis of Amyotrophic Lateral Sclerosis

Published: November 2012
Journal: Archives of Neurology
Disease:
Type of publication:

DOI: 10.1001/archneurol.2012.254

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:
Type of publication: Guideline

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:
Type of publication:

DOI: 10.1038/ejhg.2012.108

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

Published: January 2011
Journal: Annals of Neurology
Disease:
Type of publication:

DOI: 10.1002/ana.22166

Evidence-based guideline update: Plasmapheresis in neurologic disorders

Published: January 2011
Journal: Neurology
Disease:
Type of publication:

DOI: 10.1212/WNL.0b013e318207b1f6

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

Published: November 2009
Journal: European Journal of Neurology
Disease:
Type of publication:

DOI: 10.1111/j.1468-1331.2009.02811.x

Electrodiagnostic criteria for diagnosis of ALS

Published: March 2008
Journal: Clinical Neurophysiology
Disease:
Type of publication:

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:
Type of publication:

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:
Type of publication:

DOI: 10.1111/j.1468-1331.2007.01979.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