Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

A pathophysiological and mechanistic review of chronic inflammatory demyelinating polyradiculoneuropathy therapy.

Large-scale profiling of antibody reactivity to glycolipids in patients with Guillain-Barré syndrome.

Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using (23)Na-MRI in Dysferlinopathy and Healthy Controls.

Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.

Persistent symptoms, exacerbations and drug side effects despite treatment in myasthenia gravis.

Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.

Inflammatory Neuropathy Consortium base (INCbase): a protocol of a global prospective observational cohort study for the development of a prediction model for treatment response in chronic inflammatory demyelinating polyneuropathy.

Efficacy, safety and tolerability of rozanolixizumab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a randomised, subject-blind, investigator-blind, placebo-controlled, phase 2a trial and open-label extension study.

Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD.

Author Correction: Denervation-activated STAT3-IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosis.

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.

Clinical and pathophysiological implications of autoantibodies in autoimmune neuropathies.

Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.

Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.

Effect of monovalency on anti-contactin-1 IgG4.

Leptospirosis-induced acute acquired inflammatory neuropathy.

Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies.

Survey on the management of Pompe disease in routine clinical practice in Spain.

Muscle MRI in McArdle Disease: A European Multicenter Observational Study.

Impact of Neuromyelitis Optica Spectrum Disorder on Quality of Life from the Patients' Perspective: An Observational Cross-Sectional Study.

Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis.

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.

Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.

Optic Nerve Demyelination in IgG4 Anti-Neurofascin 155 Antibody-Positive Combined Central and Peripheral Demyelination Syndrome.

[Fifteen years of enzyme therapy in Pompe disease].

Autoimmune nodopathies: treatable neuropathies beyond traditional classifications.

European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision.

Corrigendum: Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests.

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa.

Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy.

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.

Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients.

International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update.

COVID-19-associated risks and effects in myasthenia gravis (CARE-MG).

247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019.

Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.

Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.

Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy.

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.

Autoantibodies in immune-mediated inflammatory neuropathies.

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

Identification of serum microRNAs as potential biomarkers in Pompe disease.

Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.

Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy.

PDGF-BB serum levels are decreased in adult onset Pompe patients.

Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.

Ocular ptosis: differential diagnosis and treatment.

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy.

Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.

231st ENMC International Workshop:: International Standard for CIDP Registry and Biobank, Naarden, The Netherlands, 12-14 May 2017.

ARTHUR ASBURY LECTURE: Chronic inflammatory demyelinating polyradiculoneuropathy: clinical aspects and new animal models of auto-immunity to nodal components.

Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy.

[Dysferlinopathy masquerading as a refractory polymyositis].

Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J mice.

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.

Protein array-based profiling of CSF identifies RBPJ as an autoantigen in multiple sclerosis.

Amyotrophic lateral sclerosis in Catalonia: a population based study.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Long-lasting treatment effect of rituximab in MuSK myasthenia.

Limb-girdle muscular dystrophy 2A.

Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.

Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient.

Symptomatic dysferlin gene mutation carriers: characterization of two cases.

In vivo and in vitro dysferlin expression in human muscle satellite cells.

[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].

[Treatment of autoimmune neuromuscular diseases with intravenous immunoglobulins].

[Sensory polyneuropathy and neural conduction block as an initial manifestation of polyarteritis nodosa].