ERN EURO-NMD

Recent papers from ERN EURO-NMD

1. Unveiling pathogens and contaminants: refining metagenomics for clinical diagnosticsFrontiers in Microbiology · 2026
2. Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the “ERN transversal working group on pregnancy and family planning” surveyReproductive Health · 2025
3. Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective StudyEuropean Journal of Neurology · 2025
4. Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene‐Related Demyelinating Peripheral NeuropathyEuropean Journal of Neurology · 2025
5. Economic and healthcare resource utilization for hereditary transthyretin amyloidosis with polyneuropathy in Spain: real-world insights from early-stage patients and mutation carriersExpert Review of Pharmacoeconomics & Outcomes Research · 2025
6. MYH7 -related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortJournal of Neurology Neurosurgery & Psychiatry · 2024
7. Prevalence and gender - specific analysis of a systemic sclerosis cohort in LatviaOrphanet Journal of Rare Diseases · 2024
8. Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognitionNeurobiology of Disease · 2024
9. Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosisBrain · 2024
10. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disordersOrphanet Journal of Rare Diseases · 2024
11. Translation, reliability, and validity of the Norwegian version of the ABILHAND-NMD and the ACTIVLIM for Myotonic Dystrophy type 1Disability and Rehabilitation · 2023
12. Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophyPLoS ONE · 2023
13. Conformation-stabilizing ELISA and cell-based assays reveal patient subgroups targeting three different epitopes of AGO1 antibodiesFrontiers in Immunology · 2022
14. Functional Ability and Physical Activity in Hereditary Neuromuscular DiseasesJournal of Neuromuscular Diseases · 2022
15. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseActa Neuropathologica Communications · 2021