Søgeresultater - Curtis R. Coughlin

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  1. 1
    Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

    Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns af Curtis R. Coughlin, Gunter Scharer, Tamim H. Shaikh

    Udgivet 2012
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  2. 2
    Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

    Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype af Nicholas Stence, Laura Z. Fenton, Claire Levek, Suhong Tong, Curtis R. Coughlin, Julia B. Hennermann, Saskia B. Wortmann, Johan L.K. Van Hove

    Udgivet 2019
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  3. 3
    Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

    Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum af Clara van Karnebeek, Sylvia A. Tiebout, J.M.F. Niermeijer, Bwee Tien Poll‐The, Aisha Ghani, Curtis R. Coughlin, Johan L.K. Van Hove, Jost Wigand Richter, Hans Juergen Christen, Renata C. Gallagher, Hans Hartmann, Sylvia Stöckler‐Ipsiroglu

    Udgivet 2016
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  4. 4
    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 af 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

    Udgivet 2015
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  5. 5
    Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

    Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia af 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

    Udgivet 2015
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  6. 6
    Mutations in the accessory subunit<i>NDUFB10</i>result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

    Mutations in the accessory subunit<i>NDUFB10</i>result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme asse... af Marisa W. Friederich, Alican J. Erdogan, Curtis R. Coughlin, Mihret Elos, Hua Jiang, Courtney P. O’Rourke, Mark A. Lovell, Eric P. Wartchow, Katherine Gowan, Kathryn C. Chatfield, Wallace S. Chick, Elaine Spector, Johan L.K. Van Hove, Jan Riemer

    Udgivet 2016
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  7. 7
    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 af 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

    Udgivet 2015
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  8. 8
    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 af 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

    Udgivet 2015
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  9. 9
    The 22q11 low copy repeats are characterized by unprecedented size and structural variability

    The 22q11 low copy repeats are characterized by unprecedented size and structural variability af Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven Pastor, Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Elizabeth A. Geiger, Curtis R. Coughlin, Stephen K. Chow, Donna M. McDonald‐McGinn, Bernice E. Morrow, Pui‐Yan Kwok, Ming Xiao, Beverly S. Emanuel, Tamim H. Shaikh, Joris Vermeesch

    Udgivet 2019
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  10. 10
    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 af Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh

    Udgivet 2013
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  11. 11
    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 af 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

    Udgivet 2019
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  12. 12
    Clinical and biochemical characterization of four patients with mutations in ECHS1

    Clinical and biochemical characterization of four patients with mutations in ECHS1 af Sacha Ferdinandusse, Marisa W. Friederich, Alberto Burlina, Jos P.N. Ruiter, Curtis R. Coughlin, Megan K. Dishop, Renata C. Gallagher, Jirair K. Bedoyan, Frédéric M. Vaz, Hans R. Waterham, Katherine Gowan, Kathryn C. Chatfield, Kaitlyn Bloom, Michael J. Bennett, Orly Elpeleg, Johan L.K. Van Hove, Ronald J. A. Wanders

    Udgivet 2015
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  13. 13
    Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

    Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials af Clara van Karnebeek, Hans Hartmann, Sravan Jaggumantri, Levinus A. Bok, Barb Cheng, Mary Connolly, Curtis R. Coughlin, Anibh M. Das, Sídney M. Gospe, Cornelis Jakobs, Johanna H. van der Lee, Saadet Mercimek‐Mahmutoglu, Uta Meyer, Eduard A. Struys, Graham Sinclair, Johan Van Hove, Jean-Paul Collet, Barbara Plecko, Sylvia Stöckler

    Udgivet 2012
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  14. 14
    Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

    Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background af Kelly E. Ormond, Miranda L. G. Hallquist, Adam H. Buchanan, Danielle Dondanville, Mildred K. Cho, Maureen E. Smith, Myra I. Roche, Kyle B. Brothers, Curtis R. Coughlin, Laura Hercher, Louanne Hudgins, Seema M. Jamal, Howard P. Levy, Misha Raskin, Melissa Stosic, Wendy R. Uhlmann, Karen E. Wain, Erin Currey, W. Andrew Faucett

    Udgivet 2018
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  15. 15
    Pathogenic variants in <scp><i>SQOR</i></scp> encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

    Pathogenic variants in <scp><i>SQOR</i></scp> encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease af Marisa W. Friederich, Abdallah F. Elias, Alice Küster, Lucia Laugwitz, Austin Larson, Aaron P. Landry, Logan Ellwood‐Digel, David M. Mirsky, David Dimmock, Jaclyn Haven, Hua Jiang, Kenneth N. Maclean, Katie Styren, Jonathan Schoof, Louise Goujon, T. Lefrançois, Maike Friederich, Curtis R. Coughlin, Ruma Banerjee, Tobias B. Haack, Johan L.K. Van Hove

    Udgivet 2020
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  16. 16
    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 af 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

    Udgivet 2016
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  17. 17
    Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

    Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations af Clara van Karnebeek, Sylvia Stöckler‐Ipsiroglu, Sravan Jaggumantri, Birgit Assmann, Peter Baxter, Daniela Buhaş, Levinus A. Bok, Barbara Cheng, Curtis R. Coughlin, Anibh M. Das, Alette Giezen, Walla Al‐Hertani, Gloria Y.F. Ho, Uta Meyer, Philippa B. Mills, Barbara Plecko, Eduard A. Struys, Keiko Ueda, Monique Albersen, Nanda M. Verhoeven, Sídney M. Gospe, Renata C. Gallagher, Johan K. L. Van Hove, Hans Hartmann

    Udgivet 2014
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  18. 18
    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 af 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

    Udgivet 2013
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  19. 19
    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency af Curtis R. Coughlin, Laura A. Tseng, José E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, Daniela Buhaş, Peter T. Clayton, Anibh M. Das, Hanka Dekker, Athanasios Evangeliou, François Feillet, Emma Footitt, Sídney M. Gospe, Hans Hartmann, Majdi Kara, Erle Kristensen, Joy Lee, R. Lilje, Nicola Longo, Roelineke J. Lunsing, Philippa B. Mills, Maria Papadopoulou, Phillip L. Pearl, Flávia Piazzon, Barbara Plecko, Arushi Gahlot Saini, Saikat Santra, Damayanti Rusli Sjarif, Sylvia Stöckler‐Ipsiroglu, Pasquale Striano, Johan L.K. Van Hove, Nanda M. Verhoeven‐Duif, Frits A. Wijburg, Sameer M. Zuberi, Clara van Karnebeek

    Udgivet 2020
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