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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

Review

Respiratory insufficiency and sleep impairment in facioscapulohumeral muscular dystrophy

DOI: https://doi.org/10.1016/j.nmd.2026.106419

Jun 2026

Neuromuscular Disord

See the publication

Position paper

European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025

Link: Paper available here

OJRD

See the publication

Consensus, EURO NMD Endorsed Consensus

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

DOI: https://www.doi.org/10.1016/j.nmd.2025.106208

Sep 2025

Neuromuscular Disord

MND/SMA

See the publication

Consensus, EURO NMD Authored Consensus

Nutrition of Neuromuscular Disease Patients

Link: Access leaflet here

Jan 2025

NMD

online leaflet

See the publication

CDST

VCP Standards of Care Working Group. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.

DOI: https://doi.org/10.1002/mgg3.2176

Mar 2023

Molecular Genetics & Genomics Medicine

Muscle Disease

See the publication

EURO NMD Endorsed Guideline, Guidelines

Key Principles and Disease-Specific Considerations to Guide Management of Bone Health and Osteoporosis Among Individuals With Neuromuscular Disorders: The Path Forward

DOI: https://doi.org/10.1002/mus.70203

May 2026

Muscle & Nerve

See the publication

EURO NMD Authored Guideline, Guidelines

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia

DOI: https://doi.org/10.1111/ene.70493

Jan 2026

European Journal of Neurology

Muscle Disease

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EURO NMD Endorsed Guideline, Guidelines

Development of a guideline for orthopaedic management in the care of children and young people with Duchenne muscular dystrophy in the UK National Health Service

DOI: https://doi.org/10.1177/18632521251348972

Aug 2025

J Child Orthop

Muscle Disease

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Consensus, EURO NMD Endorsed Consensus

280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024

DOI: https://doi.org/10.1016/j.nmd.2025.105340

May 2025

Neuromuscular Disord

Mitochondrial Disorders

See the publication

Consensus, EURO NMD Endorsed Consensus

276th ENMC International Workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands

DOI: https://doi.org/10.1016/j.nmd.2025.105344

May 2025

Neuromuscular Disord

Muscle Disease

See the publication

Consensus, EURO NMD Endorsed Consensus

273rd ENMC International workshop: Clinico-Sero-morphological classification of the Antisynthetase syndrome. Amsterdam, The Netherlands, 27-29 October 2023

DOI: https://doi.org/10.1016/j.nmd.2024.104453

Dec 2024

Neuromuscular Disord

Muscle Disease

See the publication

Consensus, EURO NMD Endorsed Consensus

256th ENMC international workshop: Myositis specific and associated autoantibodies (MSA-ab): Amsterdam, The Netherlands, 8-10 October 2021

May 2022

Neuromuscular Disord

Muscle Disease

See the publication

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