Academic articles

Our network board members have spotlighted the academic articles included below which have been peer reviewed and published in various reputable journals. They have been specifically chosen for their academic merit and their practical use for the wider community. This list will be developed over time as new guideline articles are included and current ones updated.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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