Publications by authors named "Michael A Swanson"

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Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Michael A Swanson, Hua Jiang, Nicolas Busquet, Jessica Carlsen, Connie Brindley

J Inherit Metab Dis· September 2024

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Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Michael A Swanson, Hua Jiang, Nicolas Busquet, Jessica Carlsen, Connie Brindley

bioRxiv· March 2024

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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Laura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, Joseph Farris, Elsebet Østergaard

Hum Mol Genet· March 2023

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Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
Michael A Swanson, Kristen Miller, Sarah P Young, Suhong Tong, Lina Ghaloul-Gonzalez

J Inherit Metab Dis· July 2022

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Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Michael F Wempe, Amit Kumar, Vijay Kumar, Yu J Choi, Michael A Swanson

J Inherit Metab Dis· May 2019

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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Curtis R Coughlin, Michael A Swanson, Elaine Spector, Naomi J L Meeks, Kathryn E Kronquist

J Inherit Metab Dis· March 2019

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Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Curtis R Coughlin, Michael A Swanson, Kathryn Kronquist, Cécile Acquaviva, Tim Hutchin

Genet Med· September 2018

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Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.
Curtis R Coughlin, Michael A Swanson, Elaine B Spector, Kathryn E Kronquist, Johan L K Van Hove

Pediatr Neurol· February 2018

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New insights into the phenotype of FARS2 deficiency.
Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson

Mol Genet Metab· December 2017

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Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Irene Bravo-Alonso, Rosa Navarrete, Laura Arribas-Carreira, Almudena Perona, David Abia, Michael A Swanson

Hum Mutat· June 2017

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d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
Michael A Swanson, Stephanie M Garcia, Elaine Spector, Kathryn Kronquist, Geralyn Creadon-Swindell

Mol Genet Metab· June 2017

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Curtis R Coughlin, Michael A Swanson, Kathryn Kronquist, Cécile Acquaviva, Tim Hutchin

Genet Med· January 2017

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Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
Kendra J Bjoraker, Michael A Swanson, Curtis R Coughlin, John Christodoulou, Ee S Tan

J Pediatr· March 2016

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Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606-618.
Michael A Swanson, Curtis R Coughlin, Johan L K Van Hove

Ann Neurol· March 2016

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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Michael A Swanson, Curtis R Coughlin, Gunter H Scharer, Heather J Szerlong, Kendra J Bjoraker

Ann Neurol· October 2015

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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Curtis R Coughlin, Gunter H Scharer, Marisa W Friederich, Hung-Chun Yu, Elizabeth A Geiger, Michael A Swanson

J Med Genet· August 2015

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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
Kathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, Renata C Gallagher, Jay R Hesselberth, Michael A Swanson

Mitochondrion· March 2015

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Room-temperature distance measurements of immobilized spin-labeled protein by DEER/PELDOR.
Virginia Meyer, Michael A Swanson, Laura J Clouston, Przemysław J Boratyński, Richard A Stein

Biophys J· March 2015

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R Baker, Marisa W Friederich, Michael A Swanson, Tamim Shaikh, Kaustuv Bhattacharya

Brain· February 2014

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Correction to organic radical contrast agents for magnetic resonance imaging.
Andrzej Rajca, Ying Wang, Michael Boska, Joseph T Paletta, Arnon Olankitwanit, Michael A Swanson

J Am Chem Soc· February 2014

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Organic radical contrast agents for magnetic resonance imaging.
Andrzej Rajca, Ying Wang, Michael Boska, Joseph T Paletta, Arnon Olankitwanit, Michael A Swanson

J Am Chem Soc· September 2012

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Conformational basis for asymmetric seeding barrier in filaments of three- and four-repeat tau.
Ayisha Siddiqua, Yin Luo, Virginia Meyer, Michael A Swanson, Xiang Yu

J Am Chem Soc· June 2012

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Electron transfer flavoprotein domain II orientation monitored using double electron-electron resonance between an enzymatically reduced, native FAD cofactor, and spin labels.
Michael A Swanson, Velavan Kathirvelu, Tomas Majtan, Frank E Frerman, Gareth R Eaton

Protein Sci· March 2011

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DEER distance measurement between a spin label and a native FAD semiquinone in electron transfer flavoprotein.
Michael A Swanson, Velavan Kathirvelu, Tomas Majtan, Frank E Frerman, Gareth R Eaton

J Am Chem Soc· November 2009

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The iron-sulfur cluster of electron transfer flavoprotein-ubiquinone oxidoreductase is the electron acceptor for electron transfer flavoprotein.
Michael A Swanson, Robert J Usselman, Frank E Frerman, Gareth R Eaton, Sandra S Eaton

Biochemistry· August 2008

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