Search Results - "Daya, Nassam"
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Proteomic studies in VWA1‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
Published in Journal of cellular and molecular medicine (01-04-2024)“…Bi‐allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a…”
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Muscle Specific Promotors for Gene Therapy - A Comparative Study in Proliferating and Differentiated Cells
Published in Journal of neuromuscular diseases (01-01-2023)“…Depending on the therapy approach and disease background, the heterogeneity of muscular tissues complicates the development of targeted gene therapy, where…”
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Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems
Published in Cells (Basel, Switzerland) (05-05-2023)“…Myofibrillar myopathies (MFM) are a group of chronic muscle diseases pathophysiologically characterized by accumulation of protein aggregates and structural…”
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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
Published in Brain (London, England : 1878) (03-10-2023)“…Abstract Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with…”
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