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Sabrina Sacconi

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https://researchid.co/sabrinasacconi
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202Scopus Publications

Recent Scopus Publications

  1. French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice
    Orphanet Journal of Rare Diseases, 2026
  2. EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia
    European Journal of Neurology, 2026
  3. Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework
    Neuromuscular Disorders, 2026
  4. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021: Remote Monitoring: New Solutions for New Avenues in Neuromuscular Disorders
    Journal of Neuromuscular Diseases, 2026
  5. Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients
    Journal of Neuropathology and Experimental Neurology, 2026

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