Canlyniadau Chwilio - Michael A. Swanson

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  1. 1
    Room-Temperature Distance Measurements of Immobilized Spin-Labeled Protein by DEER/PELDOR

    Room-Temperature Distance Measurements of Immobilized Spin-Labeled Protein by DEER/PELDOR gan Virginia Meyer, Michael A. Swanson, Laura J. Clouston, Przemysław J. Boratyński, Richard A. Stein, Hassane S. Mchaourab, Andrzej Rajca, Sandra S. Eaton, Gareth R. Eaton

    Cyhoeddwyd 2015
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  2. 2
    Conformational Basis for Asymmetric Seeding Barrier in Filaments of Three- and Four-Repeat Tau

    Conformational Basis for Asymmetric Seeding Barrier in Filaments of Three- and Four-Repeat Tau gan Ayisha Siddiqua, Yin Luo, Virginia Meyer, Michael A. Swanson, Xiang Yu, Guanghong Wei, Jie Zheng, Gareth R. Eaton, Buyong Ma, Ruth Nussinov, Sandra S. Eaton, Martin Margittai

    Cyhoeddwyd 2012
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  3. 3
    Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

    Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing gan Kathryn C. Chatfield, Curtis R. Coughlin, Marisa W. Friederich, Renata C. Gallagher, Jay R. Hesselberth, Mark A. Lovell, Rob Ofman, Michael A. Swanson, Janet A. Thomas, Ronald J. A. Wanders, Eric P. Wartchow, Johan L.K. Van Hove

    Cyhoeddwyd 2015
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  4. 4
    Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

    Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia gan Michael A. Swanson, Curtis R. Coughlin, Gunter Scharer, Heather Szerlong, Kendra Bjoraker, Elaine Spector, Geralyn Creadon‐Swindell, Vincent Mahieu, Gert Matthijs, Julia B. Hennermann, Derek A. Applegarth, Jennifer R. Toone, Suhong Tong, Kristina Williams, Johan L.K. Van Hove

    Cyhoeddwyd 2015
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  5. 5
    New insights into the phenotype of FARS2 deficiency

    New insights into the phenotype of FARS2 deficiency gan Elise Vantroys, Austin Larson, Marisa W. Friederich, Kaz M. Knight, Michael A. Swanson, Christopher A. Powell, Joél Smet, Sarah Vergult, Boél De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster

    Cyhoeddwyd 2017
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  6. 6
    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder

    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder gan Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung‐Chun Yu, Elizabeth A. Geiger, Geralyn Creadon‐Swindell, Abigail E. Collins, Arnaud Vanlander, Rudy Van Coster, Christopher A. Powell, Michael A. Swanson, Michal Minczuk, Johan L.K. Van Hove, Tamim H. Shaikh

    Cyhoeddwyd 2015
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  7. 7
    Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

    Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia gan Kendra Bjoraker, Michael A. Swanson, Curtis R. Coughlin, John Christodoulou, Ee Shien Tan, Mark Fergeson, Sarah Dyack, Ayesha Ahmad, Marisa W. Friederich, Elaine Spector, Geralyn Creadon‐Swindell, Marie Antoinette Redoblado-Hodge, Sommer Gaughan, Casey Burns, Johan L.K. Van Hove

    Cyhoeddwyd 2015
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  8. 8
    The genotypic spectrum of <i>ALDH7A1</i> mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

    The genotypic spectrum of <i>ALDH7A1</i> mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy gan Curtis R. Coughlin, Michael A. Swanson, Elaine Spector, Naomi Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, Clara van Karnebeek, Sídney M. Gospe, Verena G. Aziz, Becky Pinjou Tsai, Hanlin Gao, Péter L. Nagy, Keith Hyland, Silvy J.M. van Dooren, Gajja S. Salomons, Johan L.K. Van Hove

    Cyhoeddwyd 2019
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  9. 9
    The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

    The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT gan Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez‐Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon‐Swindell, Ana M. Brás-Goldberg, Elisa Rahikkala, Jukka S. Moilanen, Vincent Mahieu, Gert Matthijs, Irene Bravo‐Alonso, Celia Pérez‐Cerdá, Magdalena Ugarte, Christine Vianey‐Saban, Gunter Scharer, Johan L.K. Van Hove

    Cyhoeddwyd 2016
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  10. 10
    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 gan Peter R. Baker, Marisa W. Friederich, Michael A. Swanson, Tamim H. Shaikh, Kaustuv Bhattacharya, Gunter Scharer, Joseph K. Aicher, Geralyn Creadon‐Swindell, Elizabeth A. Geiger, Kenneth N. Maclean, Wang‐Tso Lee, Charu Deshpande, Mary-Louise Freckmann, Ling-Yu Shih, Melissa Wasserstein, Malene Bøgehus Rasmussen, Allan M. Lund, Peter Procopis, Jessie M. Cameron, Brian H. Robinson, Garry K. Brown, Ruth M. Brown, Alison G. Compton, Carol L. Dieckmann, Renata Collard, Curtis R. Coughlin, Elaine Spector, Michael F. Wempe, Johan L.K. Van Hove

    Cyhoeddwyd 2013
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