Enhancing FSHD Diagnosis: a one-year follow-up study on the Efficacy of a Combined Methylation Assay and Machine Learning Pipeline

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Diaphragmatic Ultrasonography in the respiratory assessment of Facioscapulohumeral Muscular Dystrophy (FSHD): a promising approach for management and longitudinal follow-up

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A Real-life experience with Eculizumab and Efgartigimod in generalized Myasthenia Gravis patients

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Optimization of a screening assay for antibody-mediated complement activation (ACA) in autoimmune neurological disorders

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Frequency of LRP4 antibodies in a consecutive cohort of suspected Myasthenia Gravis patients.

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The DMD Hub Central Recruitment Database, a model for effective recruitment to Rare Disease clinical trials

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EFFECTIVENESS OF THYMECTOMY IN JUVENILE MYASTHENIA GRAVIS: PRELIMINARY RESULTS OF A15-YEAR FOLLOW UP STUDY

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A familiar case of ptosis and dysphagia with facial dysmofisms due to a novel KMT2D gene mutation.

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