Hasil Pencarian - Emilia Servian-Morilla

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  1. 1
    Presenilin/γ-secretase regulates neurexin processing at synapses.

    Presenilin/γ-secretase regulates neurexin processing at synapses. oleh Carlos A Saura, Emilia Servián-Morilla, Francisco G Scholl

    Diterbitkan 2011-04-01
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  2. 2
    Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)

    Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rum... oleh Jianbo Wu, Samuel D. Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi

    Diterbitkan 2017-10-01
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  3. 3
    NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

    NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay oleh Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano

    Diterbitkan 2019-11-01
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  4. 4
    Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

    Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD oleh Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, Giovanni Antonini

    Diterbitkan 2018-09-01
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  5. 5
    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 oleh 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

    Diterbitkan 2016-10-01
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