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Publications

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.

How to Reference our Network in your Publications

Survey report

Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey

DOI: https://doi.org/10.1016/j.jns.2025.123420

May 2025

J Neurol Sci

NMD

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Overview of neuromuscular diseases

Link: Read the publication here

Mar 2023

AFM-TELETHON, 03/2023

See the publication

CDST

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

DOI: https://www.doi.org/10.1186/s13023-024-03373-w

OJRD

Muscle Disease

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CDST

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

DOI: https://www.doi.org/10.1186/s13023-024-03373-w

OJRD

Muscle Disease

See the publication

CDST

Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients

DOI: https://doi.org/10.1016/j.nmd.2023.05.006

Apr 2023

Neuromuscular Disorders

Muscle Disease

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Consensus, EURO NMD Endorsed Consensus

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach

DOI: https://doi.org/10.1016/j.ymgme.2020.10.001

Oct 2020

Molecular Genetics and Metabolism

Muscle Disease

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Consensus, EURO NMD Endorsed Consensus

272nd ENMC international workshop: 10 Years of progress – revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlands

DOI: https://doi.org/10.1016/j.nmd.2024.03.001

Feb 2024

Neuromuscular Disorders

Muscle Disease

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EURO NMD Endorsed Guideline, Guidelines

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.

DOI: https://doi.org/10.1111/cge.14533

Clinical Genetics

Muscle Disease

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Consensus, EURO NMD Endorsed Consensus

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

DOI: https://doi.org/10.1186/s13023-022-02172-5

OJRD

Muscle Disease

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CDST

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024

DOI: https://www.doi.org/10.1111/ene.16383

European Journal of Neurology

Muscle Pathology

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Consensus, EURO NMD Endorsed Consensus

2024 update: European consensus statement on gene therapy for spinal muscular atrophy

DOI: https://doi.org/10.1016/j.ejpn.2024.06.001

Jun 2024

European Journal of Paediatric Neurology

MND/SMA

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Consensus, EURO NMD Endorsed Consensus

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

DOI: https://www.doi.org/10.1002/jimd.12196

J Inherit Metab Dis.

Mitochondrial Disorders

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