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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

Reliability and agreement of a dynamic quadriceps incremental test for the assessment of neuromuscular function

DOI: 10.1016/j.jelekin.2020.102503

Nov 2020

Journal of Electromyography and Kinesiology

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A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging

DOI: 10.1111/ene.14630

Jul 4400

European Journal of Neurology

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Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies

DOI: 10.3390/pharmaceutics12111083

Nov 2020

Pharmaceutics

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Seizure-related 6 homolog like 2 autoimmunity

Nov 2020

Neurology – Neuroimmunology & Neuroinflammation

See the publication

Guidelines

International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update

DOI: 10.1212/WNL.0000000000011124

Nov 2020

Neurology

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Assessment of respiratory muscles and motor function in children with SMA treated by Nusinersen

DOI: 10.1002/ppul.25142

Oct 2020

Pediatric Pulmonology

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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

DOI: 10.15252/embj.2020105364

Oct 2020

The EMBO Journal

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hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

DOI: 10.3390/brainsci10110780

Oct 2020

Brain Sciences

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Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study

DOI: 10.1093/rheumatology/keaa459

Jul 4000

Rheumatology

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Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients

DOI: 10.1038/s41598-020-74687-5

Oct 2020

Scientific Reports

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Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD)

DOI: 10.1007/s10072-020-04819-2

Oct 2020

Neurological Sciences

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Sleep-disordered breathing in adult patients with mitochondrial diseases

DOI: 10.1212/WNL.0000000000011005

Oct 2020

Neurology

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