A novel pathogenic variant in the DYNC1H1 gene: the combining neuromuscular and brain involvement in the disease spectrum of “Dyneinopathyes”. A case report.

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Comprehensive central nervous system (CNS) functional evaluation in Italian children affected by Pompe disease: a longitudinal multicentre study

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Early real-life experience of Complement Factor C5 Inhibitors in refractory generalized myasthenia gravis

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Sleep Disordered Breathing in a cohort of patients with Duchenne Muscular Dystrophy: a retrospective analysis and future perspectives

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Pathogenic TNNI1 variants cause muscle disease manifesting as either a hypo- (recessively inherited) or a hyper- (dominantly inherited) contractile phenotype.

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Clinical variability and molecular complexity of FSHD: relevance of deep phenotyping and comprehensive genetics in characterizing atypical clinical cases

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Long-read DNA and RNA sequencing improves analyzing large and complex genes: the example of TTN and NEB

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Epilepsy and myasthenia gravis, clues of a complex interplay: case series and review of the literature

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Basal metabolism, myokine levels and disease severity in Amyotrophic Lateral Sclerosis

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