Publication Search – ERN-EURO-NMD

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.

237th ENMC International Workshop: GNE myopathy current and future research Hoofdorp, The Netherlands, 14 – 16 September 2018

Published: March 2019
Journal: Neuromuscular Disorders
Disease: GNE myopathy / HIBM
Type of publication: Academic publication, Care, Clinical research, Clinical trial readiness, Guidelines, Workshop report
DOI: 10.1016/j.nmd.2019.02.010

A unique e-health and telemedicine implementation: European Reference Networks for rare diseases

Published: March 2019
Journal: Journal of Public Health
Disease: Neuromuscular disease
Type of publication: Academic publication, Clinical research, Diagnosis, Treatment guidelines
DOI: 10.1007/s10389-019-01052-w

Idiopathic inflammatory myopathies: narrative review of unmet needs in clinical practice guidelines

Published: February 2019
Journal: RMD Open
Disease: Idiopathic inflammatory myopathies
Type of publication: Academic publication
DOI: 10.1136/rmdopen-2018-000784

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018

Published: January 2019
Journal: Journal of Neuromuscular Diseases
Disease: Neuromuscular disease
Type of publication: Meeting report, Workshop report
DOI: 10.3233/JND-180368

Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease - A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRI

Published: January 2019
Journal: Journal of Neuromuscular Disorders
Disease: Neuromuscular disease
Type of publication: Imaging/mRI, Standard Operating Procedures
DOI: 10.3233/JND-180333

Recommended Standards for Muscle Biopsies

Published: January 2019
Journal: EURO-NMD Publication
Disease: Neuromuscular disease
Type of publication: Clinical research, Guidelines, Pathology, Standard Operating Procedures

Link: Recomended Standards for Muscle Biopsies

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

Published: December 2018
Journal: Muscle & Nerve
Disease: Limb girdle muscular dystrophy 2b
Type of publication: Academic publication
DOI: 10.1002/mus.26403

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

Published: October 2018
Journal: Orphanet Journal of Rare Diseases
Disease: Neuromuscular disease
Type of publication: Academic publication
DOI: 10.1186/s13023-018-0918-z

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

Published: May 2018
Journal: Neuromuscular Disorders
Disease: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2i, Limb girdle muscular dystrophy 2k, Limb girdle muscular dystrophy 2m, Limb girdle muscular dystrophy 2n, Limb girdle muscular dystrophy 2o
Type of publication: Workshop report
DOI: 10.1016/j.nmd.2018.05.007

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

Published: March 2018
Journal: Neuromuscular Disorders
Disease: Motor neuron disease, Spinal muscular atrophy
Type of publication: Care, Guidelines, Treatment guidelines
DOI: 10.1016/j.nmd.2017.11.004

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

Published: February 2018
Journal: Neuromuscular Disorders
Disease: Motor neuron disease, Spinal muscular atrophy
Type of publication: Care, Diagnosis, Guidelines
DOI: 10.1016/j.nmd.2017.11.005

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Published: January 2018
Journal: Lancet Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Care, Guidelines
DOI: 10.1016/S1474-4422(18)30024-3

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

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Published: January 2018
Journal: Lancet Neurology
Disease: Duchenne muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines
DOI: 10.1016/S1474-4422(18)30024-3

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, Diagnosis, Guidelines
DOI: 10.1016/S1474-4422(18)30025-5

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

International Workshop:: 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: Clinical trial readiness, Guidelines, Outcome measures
DOI: 10.1016/j.nmd.2017.08.006

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

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Published: October 2017
Journal: Genetics in Medicine
Disease: Mitochondrial disease
Type of publication: Diagnosis, Guidelines
DOI: 10.1038/gim.2017.125

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

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Published: August 2017
Journal: Circulation
Disease: Neuromuscular disease
Type of publication: Guidelines, Treatment guidelines
DOI: 10.1161/CIR.0000000000000526

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

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, Diagnosis, 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

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

Published: May 2017
Journal: European Journal of Neurology
Disease: Pompe disease
Type of publication: Guidelines, Treatment guidelines
DOI: 10.1111/ene.13285

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

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

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

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

Motor neurone disease: assessment and management

Published: February 2016
Journal: NICE Guidelines
Disease: Amyotrophic lateral sclerosis, Motor neuron disease
Type of publication: Care, Diagnosis, Guidelines

Link: www.nice.org.uk

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Published: July 2015
Journal: Neurology
Disease: Facioscapulohumeral muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines, Treatment guidelines
DOI: 10.1212/WNL.0000000000001783

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: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Published: March 2015
Journal: Neurology
Disease: Congenital muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines
DOI: 10.1212/WNL.0000000000001416

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy. Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Published: March 2015
Journal: Neurology
Disease: Congenital muscular dystrophy
Type of publication: Care, Diagnosis, Guidelines, Treatment guidelines
DOI: 10.1212/WNL.0000000000001416

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Published: October 2014
Journal: Neurology
Disease: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2i, Limb girdle muscular dystrophy 2k, Limb girdle muscular dystrophy 2m, Limb girdle muscular dystrophy 2n, Limb girdle muscular dystrophy 2o
Type of publication: Care, Diagnosis, Guidelines, Treatment guidelines
DOI: 10.1212/WNL.0000000000000892

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

Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: Consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1–2 October 2009, Paris, France

Published: October 2012
Journal: Neuromuscular Disorders
Disease: Pompe disease
Type of publication: Imaging/mRI, Standard Operating Procedures
DOI: 10.1016/j.nmd.2012.06.005

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

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Evidence-based guideline: intravenous immunoglobulin in the treatment of neuromuscular disorders: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology

Published: March 2012
Journal: Neurology
Disease: Neuromuscular disease
Type of publication: Treatment guidelines
DOI: 10.1212/WNL.0b013e31824de293

EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force

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

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: Guillain-Barré syndrome
Type of publication: Guidelines, Treatment guidelines
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

European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society

Published: December 2010
Journal: Journal of the Peripheral Nervous System
Disease: Multifocal motor neuropathy
Type of publication: Care, Guidelines
DOI: 10.1111/j.1529-8027.2010.00290.x

European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of paraproteinemic demyelinating neuropathies. Report of a Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society

Published: October 2010
Journal: Journal of the Peripheral Nervous System
Disease: Paraproteinemic demyelinating neuropathies
Type of publication: Care, Guidelines
DOI: 10.1111/j.1529-8027.2010.00278.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

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 guidelines on the molecular diagnosis of mitochondrial disorders

Published: November 2009
Journal: European Journal of Neurology
Disease: Mitochondrial disease
Type of publication: Diagnosis, Guidelines
DOI: 10.1111/j.1468-1331.2009.02811.x

Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.

Published: October 2009
Journal: Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Guidelines
DOI: 10.1212/WNL.0b013e3181bc01a4

Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.

Published: October 2009
Journal: Neurology
Disease: Amyotrophic lateral sclerosis
Type of publication: Care, Guidelines
DOI: 10.1212/WNL.0b013e3181bc0141

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 guideline on diagnosis and management of limb girdle muscular dystrophies

Published: November 2007
Journal: European Journal of Neurology
Disease: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2i, Limb girdle muscular dystrophy 2k, Limb girdle muscular dystrophy 2m, Limb girdle muscular dystrophy 2n, Limb girdle muscular dystrophy 2o
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