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.

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Published: January 2018
Journal: Lancet Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Care, Guidelines
DOI: 10.1016/S1474-4422(18)30025-5

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan

Published: January 2018
Journal: Lancet Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Care, Guidelines
DOI: 10.1016/S1474-4422(18)30026-7

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

Published: December 2017
Journal: Neuromuscular Disorders
Disease: Mitochondrial disease
Type of publication: Guidelines, Outcome measures, Workshop report
DOI: doi.org/10.1016/j.nmd.2017.08.006

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

Published: December 2017
Journal: Neuromuscular Disorders
Disease: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies
Type of publication: Workshop report
DOI: 10.1016/j.nmd.2017.09.005

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Published: November 2017
Journal: Neuromuscular Disorders
Disease: Spinal muscular atrophy
Type of publication: Care, Guidelines
DOI: 10.1016/j.nmd.2017.11.005

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Published: November 2017
Journal: Neuromuscular Disorders
Disease: Spinal muscular atrophy
Type of publication: Care, Guidelines
DOI: 10.1016/j.nmd.2017.11.004

Myasthenia gravis: new developments in research and treatment

Published: October 2017
Journal: Current Opinion in Neurology
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Care, Clinical research, Guidelines
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: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies
Type of publication: Diagnosis, Guidelines
DOI: 10.1136/jnnp-2016-313960

Patient Care Standards for Primary Mitochondrial Disease: A Consensus Statement from the Mitochondrial Medicine Society

Published: July 2017
Journal: Genetics in Medicine
Disease: Mitochondrial disease
Type of publication: Care, Guidelines
DOI: 10.1038/gim.2017.107

Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy

Published: June 2017
Journal: Journal of Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Imaging/mRI, Standard Operating Procedures
DOI: 10.1007/s00415-017-8547-3

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Published: March 2017
Journal: Journal of Inherited Metabolic Disease
Disease: Mitochondrial disease
Type of publication: Clinical research, Guidelines
DOI: 10.1007/s10545-017-0035-5

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society

Published: August 2016
Journal: Journal of Neurology
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Care, Guidelines
DOI: 10.1007/s00415-016-8045-z

International consensus guidance for management of myasthenia gravis: Executive summary

Published: July 2016
Journal: Neurology
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Care, Guidelines
DOI: 10.1212/WNL.0000000000002790

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: Becker muscular dystrophy, Duchenne muscular dystrophy
Type of publication: Imaging/mRI, Standard Operating Procedures
DOI: 10.3233/JND-160145

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

Published: February 2016
Journal: Curr Opin Neurol
Disease: ATTR-related neuropathy
Type of publication: Care, Diagnosis, Guidelines
DOI: 10.1097/WCO.0000000000000289

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

Published: February 2016
Journal: Curr Opin Neurol
Disease: ATTR-related neuropathy
Type of publication: Care, Guidelines
DOI: 10.1097/WCO.0000000000000290

Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology

Published: February 2016
Journal: Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Guidelines, Treatment guidelines
DOI: 10.1212/WNL.0000000000002337

Motor Neurone Disease: Assessment and Management

Published: February 2016
Journal: Nice Guidelines
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Diagnosis, Guidelines, Treatment guidelines

Link: www.nice.org.uk/guidance

Myasthenia gravis: Association of British Neurologists' management guidelines

Published: June 2015
Journal: Practical Neurology
Disease: Myasethenia gravis, Neuromuscular junction
Type of publication: Care, Guidelines
DOI: 10.1136/practneurol-2015-001126

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

Published: October 2014
Journal: Neurology
Disease: Limb girdle muscular dystrophy
Type of publication: Diagnosis, Guidelines
DOI: 10.1212/WNL.0000000000000892

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

Published: September 2013
Journal: Nature Reviews Neurology
Disease: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies
Type of publication: Clinical research, Guidelines
DOI: 10.1038/nrneurol.2013.179

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: Myotonic dystrophy, Myotonic dystrophy type 1, Myotonic dystrophy type 2
Type of publication: Diagnosis, Guidelines
DOI: 10.1038/ejhg.2012.108

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

Published: February 2012
Journal: European Journal of Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Guidelines
DOI: 10.1111/j.1468-1331.2011.03501.x

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

Published: January 2011
Journal: Annals of Neurology
Disease: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies
Type of publication: Diagnosis, Guidelines
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 for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

Published: January 2011
Journal: European Journal of Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Diagnosis, Guidelines
DOI: 10.1111/j.1468-1331.2010.03069.x

Guillain-Barré syndrome and Fisher syndrome: case definitions and guidelines for collection, analysis, and presentation of immunization safety data

Published: January 2011
Journal: Vaccine
Disease: Guillain-Barré syndrome
Type of publication: Care, Guidelines
DOI: 10.1016/j.vaccine.2010.06.003

Peripheral Nerve Society Guideline on the classification, diagnosis, investigation, and immunosuppressive therapy of non-systemic vasculitic neuropathy: executive summary.

Published: October 2010
Journal: Journal of the Peripheral Nervous System
Disease: Vasculitic neuropathy
Type of publication: Care, Guidelines
DOI: 10.1111/j.1529-8027.2010.00281.x

European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy

Published: February 2010
Journal: European Journal of Neurology
Disease: Chronic inflammatory demyelinating polyneuropath
Type of publication: Care, Guidelines
DOI: 10.1111/j.1468-1331.2009.02930.x

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

Published: November 2007
Journal: European Journal of Neurology
Disease: Limb girdle muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines
DOI: 10.1111/j.1468-1331.2007.01979.x

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives

Published: December 2005
Journal: European Journal of Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Guidelines
DOI: 10.1111/j.1468-1331.2005.01351.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