檢索結果 - Fabiola Mavillard
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NEURONAL LIPOFUSCINOSIS CAUSED BY KUFS DISEASE/CLN4 DNAJC5 MUTATIONS BUT NOT BY A CSP-ALPHA/DNAJC5 DEFICIENCY 由 Santiago López-Begines, Ángela Lavado-Roldán, Cristina Mesa-Cruz, Fabiola Mavillard-Saborido, Nozha Borjini, Vera Wiersma, Carolina Aguado, Rafael Luján, José Luis Nieto-González, Wiep Scheper, Rafael Fernández-Chacón
發表在 IBRO Neuroscience Reports (2023-10-01)獲取全文
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A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss 由 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
發表在 EMBO Molecular Medicine (2016-10-01)獲取全文
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