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  1. 1
    High‐Density Lipoprotein‐Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin‐Deficient Limb–Girdle Muscular Dystrophy Type R2

    High‐Density Lipoprotein‐Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin‐Deficient Limb–Girdle Muscular Dystrophy Type R2 by Zoe White, Laura Rufibach, Heather Gordish Dressman, Heather Hilsden, Dan Cox, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Jordi Diaz‐Manera, Elena Pegoraro, Jerry R. Mendell, the Jain COS Consortium, Volker Straub, Pascal Bernatchez

    Published 2025-08-01
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  2. 2
    A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

    A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss by Emilia Servián‐Morilla, Hideyuki Takeuchi, Tom V Lee, Jordi Clarimon, Fabiola Mavillard, Estela Area‐Gómez, Eloy Rivas, Jose L Nieto‐González, Maria C Rivero, Macarena Cabrera‐Serrano, Leonardo Gómez‐Sánchez, Jose A Martínez‐López, Beatriz Estrada, Celedonio Márquez, Yolanda Morgado, Xavier Suárez‐Calvet, Guillermo Pita, Anne Bigot, Eduard Gallardo, Rafael Fernández‐Chacón, Michio Hirano, Robert S Haltiwanger, Hamed Jafar‐Nejad, Carmen Paradas

    Published 2016-10-01
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