检索结果 - Iulia Munteanu

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  1. 1
    RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

    RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling 由 Haiyan Zhou, Ori Rokach, Lucy Feng, Iulia Munteanu, Kamel Mamchaoui, Jo M. Wilmshurst, Caroline A. Sewry, Adnan Y. Manzur, Komala Pillay, Vincent Mouly, Michael R. Duchen, Heinz Jungbluth, Susan Treves, Francesco Muntoni

    出版 2013
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  2. 2
    A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

    A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome 由 Gevork N. Mnatzakanian, Hannes Lohi, Iulia Munteanu, Simon E. Alfred, Takahiro Yamada, Patrick J. M. MacLeod, Julie R. Jones, Stephen W. Scherer, N. Carolyn Schanen, Michael J. Friez, John B. Vincent, Berge A. Minassian

    出版 2004
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  3. 3
    RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

    RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification 由 N. Ramachandran, Iulia Munteanu, Peixiang Wang, Pauline Aubourg, Jennifer J. Rilstone, Nyrie Israelian, Taline Naranian, Paul Paroutis, Ray Guo, Zhi-Ping Ren, Ichizo Nishino, B. Chabrol, Jean-Francois Pellissier, Carlo Minetti, Bjarne Udd, Michel Fardeau, Chetankumar S. Tailor, Don J. Mahuran, John T. Kissel, Hannu Kalimo, Nicolas Lévy, Morris F. Manolson, Cameron Ackerley, Berge A. Minassian

    出版 2009
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  4. 4
    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling 由 Clare V. Logan, György Szabadkai, Jenny A. Sharpe, David Parry, Silvia Torelli, Anne‐Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A. Johnson, Nicola Roberts, David T. Bonthron, Karen Pysden, Tamieka Whyte, Iulia Munteanu, A. Reghan Foley, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Zakia A. Abdelhamed, Joanne Morgan, H. Roper, Gijs W.E. Santen, Erik H. Niks, W. Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T. den Dunnen, Yu Sun, Ieke B. Ginjaar, Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan

    出版 2013
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