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Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy by Sara Missaglia, Sara Missaglia, Eleonora Martegani, Eleonora Martegani, Corrado Angelini, Rita Horvath, Veronika Karcagi, Endre Pal, Endre Pal, Daniela Tavian, Daniela Tavian
Published 2025-08-01Get full text
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Padua Days on Muscle and Mobility Medicine, March 25-29, 2025, Hotel Petrarca, Euganean Thermae, Italy: Program and Abstracts by Barbara Ravara, Paolo Gargiulo, David Hood, Lars Larsson, Christiaan Leeuwenburgh, Maria Chiara Maccarone, Stefano Masiero, Philippe Perrin, Amber Pond, Riccardo Rosati, Piera Smeriglio, Lee Sweeney, Daniela Tavian, Gerd Fabian Volk, Ugo Carraro
Published 2025-03-01Get full text
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Mobility Medicine: A call to unify hyper-fragmented specialties by abstracts sent to 2025Pdm3, and typescripts to Ejtm3, and <i>Diagnostics</i> by Ugo Carraro, Marie Sophie Alberty, Stephen Anton, Elena Barbieri, Ines Bersch, Bert Blaauw, Gerardo Bosco, Riccardo Forni, Massimo Ganassi, Paolo Gargiulo, Paulo Gentil, Ashraf S. Gorgey, Christiaan Leeuwenburgh, Maria Chiara Maccarone, Alessandro Martini, Stefano Masiero, Winfried Mayr, Giuseppe Messina, Aldo Morra, Marco Narici, Kay Ohlendieck, Philippe Perrin, Amber Pond, Marco Quadrelli, Riccardo Rosati, Piero Sestili, Piera Smeriglio, H. Lee Sweeney, Daniela Tavian, Gerd Fabian Volk
Published 2024-12-01Get full text
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