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    • Progetti di ricerca 2023
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      • Activation of human skeletal muscle stem cells:role of Orai3 ans its partner AHNAK2 in physiological condition and in Duchenne Muscular Dystrophy
      • Understanding the clinical spectrum associated with VMA21 deficiency
      • ANTXR2 as a key player in Collagen VI signaling in muscle stem cells: new therapeutic perspectives for COL6-related myopathies.
      • Molecular mechanisms of complement activation and neuromuscular disruption by combinations of autoantibodies from patients with Myasthenia Gravis
      • From the investigation of the role of SRSF1 in ALS/FTD to its targeting as a therapeutic strategy
      • Molecular crosstalk between muscles and motor neurons and its role in neuromuscular circuit formation
      • Molecular Diagnosis and Coping Mechanisms in Mitochondrial Myopathies
      • IPRIMYO: Immune-privileged, immortal, myogenic stem cells for gene therapy of Muscular Dystrophy
      • Effect of RYR1 mutations on muscle spindle function and their impact on the musculoskeletal system
      • Therapeutic potential of human myogenic reserve cells in Duchenne Muscular Dystrophy
      • Glutamine metabolism as a potential target for Duchenne Muscular Dystrophy
      • Targeting protein s-acylation during Tubular Aggregate Myopathy
      • Aggravating the phenotype of dystrophic mice for improving preclinical research and clinical translation for Duchenne muscular dystrophy
      • Characterization of autoreactive T cells in Guillain-Barré syndrome
      • A vascularized human muscle-on-a-chip to elucidate the contribution of endothelial-mesenchymal transition on the progression of muscular dystrophies
      • Characterization of a novel form of ALS associated with changes in the sphingolipid metabolism
      • Pre-clinical treatment of mouse models carrying recessive Ryr1 mutations with HDAC/DNA methyltransferase inhibitors.
      • New aspects of TGFβ signaling in muscle homeostasis and regeneration
      • Inhibition of sphingolipid synthesis as a treatment strategy for Duchenne muscular dystrophy
      • Tamoxifen in Duchenne muscular dystrophy (TAMDMD)
      • DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD
      • Facilitating diagnosis of critical illness myopathy using muscle excitability testing
      • Rapid Exploratory Imaging for High-resolution and Whole Extremity Coverage in MR Neurography
      • Deciphering novel mechanisms and effectors contributing to muscle dysfunction in Myotonic Dystrophy Type I
      • Can HDAC/DNA methyltransferase inhibitors improve muscle function in a congenital myopathy caused by recessive RYR1 mutations?
      • Identification of the critical regulators of protein synthesis and degradation in human muscle atrophy
      • Exploring peripheral B-cell-helper T cell phenotypes in the blood of patients with Myasthenia gravis using mass cytometry (CyTOF)
      • Molecular signature, metabolic profile and therapeutic potential of human myogenic reserve cells
      • A multicenter cross-sectional and longitudinal study of the Swiss cohort of Merosin-negative congenital muscular dystrophy
      • Targeting NADPH oxidase 4 in models of Duchenne muscular dystrophy
      • Characterizing the role of ER stress in C9orf72-linked ALS pathology
      • Inducing mitophagy with Urolithin A to restore mitochondrial and muscle function in muscular dystrophy
      • Motor unit action potentials analysis in patients with myopathies with a new wireless portable and multichannel Surface EMG device (WPM-SEMG)
      • Role and therapeutic potential of PLIN3 in neuromuscular diseases
      • Changes in ventilation distribution in children with neuromuscular disease using the insufflator/exsufflator technique: An observational study
      • Mechanism and function of genome organization in muscle development and integrity
      • Role and therapeutic potential of NADPH oxidases in a mouse model of Duchenne Muscular Dystrophy
      • Characterization of pathological pathways activated in muscles of patients with congenital myopathies with disturbed Ca2+ homeostasis
      • Creation of a study team to conduct an SMA 1-clinical trial at the Centre for Neuromuscular Diseases of the University Children's Hospital Basel (UKBB)
      • Novel treatment to stop progressive neuropathy and muscle weakness in multifocal motor neuropathy
      • Understanding the pathomechanisms leading to muscle alterations in Myotonic Dystrophy type I
      • Automated volumetry and quantitative MRI to diagnose peripheral nerve lesions – translational proposal for a new clinical diagnostic imaging tool
      • Novel approaches against Spinal Muscular Atrophy by targeting splicing regulators
      • Protective effects and mechanisms of action of tamoxifen in mice with severe muscular diseases
      • Role of the receptor FgfrL1 in the development of slow muscle fibers
      • Muscle velocity recovery cycles: A new tool for early diagnosis of critical illness myopathy
      • Generation of uncommitted human IPSC derived muscle stem cells for therapeutic applications
      • Transposable vectors for dystrophin-expression in a murine model for muscular dystrophy
      • Cardiac involvement in patients with Duchenne/Becker Muscular Dystrophy; an observational study
      • Deciphering the pathogenic mechanisms of C9ORF72 ALS
      • Enhancing estrogenic signalling to fight muscular dystrophies: Mechanisms of action and repurposing clinically approved drugs
      • Mechanisms and therapeutic potential of modulating PGC‐1α to alter neuromuscular junction morphology and function
      • Triggering human myoblast differentiation: from EGFR to myogenic transcription factors
      • Improving cellular therapies of muscle dystrophies by uncovering epigenetic and signaling pathways of muscle formation
      • Protein engineering in an attempt to increase the mechanical, integrin dependent cytoskeleton-matrix linkage in muscle fibers
      • Muscle velocity recovery cycles: a new tool for characterization of muscle disease in vivo
      • Excessive neurotrypsin activation and agrin cleavage-a pathogenic condition leading to sarcopenia-like muscle atrophy?
      • Evaluation of novel treatment strategies for dyspherlinopathies in mouse models
      • Cell therapy of LGMD2D by donor HLA-characterized human mesoangioblasts (hMABs) produced in GMP conditions
      • In search of small molecules targeting protein-RNA complex: a novel approach against Spinal Muscular Atrophy
      • Restoration of autophagy as a new strategy for the treatment of congenital muscular dystrophies
      • Development of magnetic resonance methods for functional imaging of the skeletal muscle
      • Targeting ER stress response: a potential mechanism for neuroprotection in Amyotrophic Lateral Sclerosis
      • Generation of uncommitted human IPSC derived muscle stem cells for therapeutic applications
    • Opuscolo progetti
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