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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

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

DOI: 10.1002/mus.26403

Jul 6800

Muscle & Nerve

See the publication

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

DOI: 10.1016/j.nmd.2018.05.007

May 2018

Neuromuscular Disorders

See the publication

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

DOI: 10.1186/s13023-018-0918-z

Oct 2018

Orphanet Journal of Rare Diseases

See the publication

EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis

DOI: 10.1111/j.1468-1331.2011.03501.x

Jul 0000

European Journal of Neurology

See the publication

Guidelines

Motor neurone disease: assessment and management

Link: www.nice.org.uk

Feb 2016

NICE Guidelines

See the publication

Guidelines

Diagnosis and management of spinal muscular atrophy: Part 2

DOI: 10.1016/j.nmd.2017.11.004

Mar 2018

Neuromuscular Disorders

See the publication

Guidelines

Diagnosis and management of spinal muscular atrophy: Part 1

DOI: 10.1016/j.nmd.2017.11.005

Jul 3200

Neuromuscular Disorders

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Revisiting mitochondrial diagnostic criteria in the new era of genomics

DOI: 10.1038/gim.2017.125

Oct 2017

Genetics in Medicine

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EFNS guidelines on the molecular diagnosis of mitochondrial disorders

DOI: 10.1111/j.1468-1331.2009.02811.x

Jul 6000

European Journal of Neurology

See the publication

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

DOI: 10.1016/j.nmd.2017.08.006

Dec 2017

Neuromuscular Disorders

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Common data elements for clinical research in mitochondrial disease

DOI: 10.1007/s10545-017-0035-5

May 2017

Journal of Inherited Metabolic Disease

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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease

DOI: 10.1111/ene.13285

May 2017

European Journal of Neurology

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