检索结果 - Jeffrey Hamada

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    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation 由 Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, P Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan J. Hayflick, Ivan Gout, Valeria Tiranti

    出版 2013
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    4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of <scp>PKAN</scp>

    4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of <scp>PKAN</scp> 由 Suh Young Jeong, Penelope Hogarth, Andrew T. Placzek, Allison Gregory, Rachel Fox, Dolly Zhen, Jeffrey Hamada, Marianne van der Zwaag, Roald A. Lambrechts, Haihong Jin, Aaron Nilsen, Jared Cobb, Thao Pham, Nora E. Gray, Martina Ralle, Megan Duffy, Leila K. Schwanemann, Puneet Rai, Alison Freed, Katrina Wakeman, Randall L. Woltjer, Ody C.M. Sibon, Susan J. Hayflick

    出版 2019
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  3. 3
    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder 由 Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek‐Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas‐Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben‐Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter M. Anderson, Marcus Annable, Elizabeth Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Yi Qian

    出版 2016
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