Hasil Pencarian - Michael Shy

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  1. 1
    Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy

    Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy oleh Christopher Yanick, Renata Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael Shy, Stephan Zuchner, Mario Saporta

    Diterbitkan 2024-08-01
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  2. 2
    Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

    Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy oleh Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy, James J. Dowling.

    Diterbitkan 2023-04-01
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  3. 3
    Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency

    Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency oleh Yi Zhu, Amanda G. Lobato, Adriana P. Rebelo, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao, Sheyum Syed, Christopher Yanick, Mario Saporta, Michael Shy, Riccardo Perfetti, Shoshana Shendelman, Stephan Züchner, R. Grace Zhai

    Diterbitkan 2023-05-01
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  4. 4
    P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy*

    P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy* oleh Amy White, Jordan Bontrager, William Laxen, Perry Loken, Tiffany Grider, Josef Alawneh, Vincent Carson, Emily Lauer, Angela Pickart, Zhiyv Niu, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Patricia Hall, Dietrich Matern, Michael Shy, David Herrmann, Matthew Schultz

    Diterbitkan 2024-01-01
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  5. 5
    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy oleh Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

    Diterbitkan 2015-08-01
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