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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

Guidelines

Diagnosis and management of spinal muscular atrophy: Part 1

DOI: https://doi.org/10.1016/j.nmd.2017.11.005

Jul 2018

Neuromuscular Disorders

See the publication

Revisiting mitochondrial diagnostic criteria in the new era of genomics

DOI: 10.1038/gim.2017.125

Oct 2017

Genetics in Medicine

See the publication

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

See the publication

Common data elements for clinical research in mitochondrial disease

DOI: 10.1007/s10545-017-0035-5

May 2017

Journal of Inherited Metabolic Disease

See the publication

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

See the publication

Management of Cardiac Involvement Associated With Neuromuscular Diseases

DOI: 10.1161/CIR.0000000000000526

Jul 2800

Circulation

See the publication

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

DOI: 10.1212/WNL.0000000000001416

Mar 2015

Neurology

See the publication

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

DOI: 10.1212/WNL.0000000000001783

Jul 2015

Neurology

See the publication

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

DOI: 10.1111/j.1468-1331.2007.01979.x

Nov 2007

European Journal of Neurology

See the publication

Guidelines

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies

DOI: 10.1212/WNL.0000000000000892

Oct 2014

Neurology

See the publication

Guidelines

Diagnosis and management of Duchenne muscular dystrophy, part 1

DOI: 10.1016/S1474-4422(18)30024-3

Jan 2018

Lancet Neurology

See the publication

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