檢索結果 - Lindsay C. Swanson

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  1. 1
    CDKL5 deficiency disorder: clinical features, diagnosis, and management

    CDKL5 deficiency disorder: clinical features, diagnosis, and management 由 Helen Leonard, Jenny Downs, Tim A. Benke, Lindsay C. Swanson, Heather E. Olson, Scott Demarest

    出版 2022
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  2. 2
    Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

    Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review 由 Heather E. Olson, Scott Demarest, Elia M. Pestana-Knight, Lindsay C. Swanson, Sumaiya Iqbal, Dennis Lal, Helen Leonard, J. Helen Cross, Orrin Devinsky, Tim A. Benke

    出版 2019
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  3. 3
    A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

    A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study 由 Alan H. Beggs, Barry J. Byrne, S. de Chastonay, Tmirah Haselkorn, Imelda Hughes, Emma James, Nancy L. Kuntz, Jennifer Simon, Lindsay C. Swanson, Michele Yang, Zi‐Fan Yu, Sabrina W. Yum, Suyash Prasad

    出版 2017
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  4. 4
    Tissue Triage and Freezing for Models of Skeletal Muscle Disease

    Tissue Triage and Freezing for Models of Skeletal Muscle Disease 由 Hui Meng, Paul M.L. Janssen, Robert W. Grange, Lin Yang, Alan H. Beggs, Lindsay C. Swanson, Stacy A. Cossette, Alison Rockett Frase, Martin K. Childers, Henk Granzier, Emanuela Gussoni, Michael W. Lawlor

    出版 2014
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  5. 5
    CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

    CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development 由 Scott Demarest, Heather E. Olson, Angela Moss, Elia M. Pestana-Knight, Xiaoming Zhang, Sumit Parikh, Lindsay C. Swanson, Katherine D. Riley, Grace A. Bazin, Katie Angione, Lisa‐Marie Niestroj, Dennis Lal, Elizabeth Juarez‐Colunga, Tim A. Benke

    出版 2019
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  6. 6
    SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

    SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy 由 Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa G. Viola, Lindsay C. Swanson, Göknur Haliloğlu, Beril Talim, Kyle S. Yau, Richard J.N. Allcock, Nigel G. Laing, Mark A. Perrella, Alan H. Beggs

    出版 2014
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  7. 7
    Comparison of evoked potentials across four related developmental encephalopathies

    Comparison of evoked potentials across four related developmental encephalopathies 由 Joni N. Saby, Sarika U. Peters, Tim A. Benke, Shannon M. Standridge, Lindsay C. Swanson, David N. Lieberman, Heather E. Olson, Alexandra P. Key, Alan K. Percy, Jeffrey L. Neul, Charles A. Nelson, Timothy P. L. Roberts, Eric D. Marsh

    出版 2023
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  8. 8
    Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

    Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy 由 Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo, Klaus Schmitz‐Abe, Elizabeth T. DeChene, Lindsay C. Swanson, Rachel Soemedi, Nasim Vasli, Susan T. Iannaccone, Perry B. Shieh, Natasha Shur, Jane M. Dennison, Michael W. Lawlor, Jocelyn Laporte, Kyriacos Markianos, William G. Fairbrother, Henk Granzier, Alan H. Beggs

    出版 2013
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  9. 9
    Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

    Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder 由 Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin Greene, Anne Marie M. Denny, Scott Demarest, Elia M. Pestana-Knight, Xiaoming Zhang, Ahsan N. Moosa, Andrea Fidell, Judith Weisenberg, Bernhard Suter, Cary Fu, Jeffrey L. Neul, Alan K. Percy, Eric D. Marsh, Tim A. Benke, Annapurna Poduri

    出版 2021
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  10. 10
    Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome

    Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome 由 Heather M. O’Leary, Walter E. Kaufmann, Katherine V. Barnes, Kshitiz Rakesh, Kush Kapur, Daniel Tarquinio, Nicole G. Cantwell, Katherine J. Roche, Suzanne Rose, Alexandra C. Walco, Natalie M. Bruck, Grace A. Bazin, Ingrid A. Holm, Mark E. Alexander, Lindsay C. Swanson, Lauren Baczewski, Juan Manuel Mayor Torres, Charles A. Nelson, Mustafa Şahin

    出版 2018
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  11. 11
    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region 由 McKenna Kelly, Meredith Park, Ivana Mihalek, Anne Rochtus, Marie Gramm, Eduardo Pérez‐Palma, Erika Axeen, Christina Hung, Heather E. Olson, Lindsay C. Swanson, Irina Anselm, Lauren C. Briere, Frances A. High, David A. Sweetser, Saima Kayani, Molly Snyder, Sophie Calvert, Ingrid E. Scheffer, Edward Yang, Jeff L. Waugh, Dennis Lal, Olaf A. Bodamer, Annapurna Poduri

    出版 2019
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  12. 12
    Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

    Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy 由 Vandana Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J. Todd, Lindsay C. Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F. Clarke, Basil T. Darras, Michelle A. Farrar, Amal Hashem, Nicholas Manton, Francesco Muntoni, Kathryn N. North, Sarah A. Sandaradura, Ichizo Nishino, Yukiko Hayashi, Caroline A. Sewry, Elizabeth M. Thompson, Kyle S. Yau, Catherine A. Brownstein, Timothy W. Yu, Richard J. N. Allcock, Mark R. Davis, Carina Wallgren‐Pettersson, Naomichi Matsumoto, Fowzan S. Alkuraya, Nigel G. Laing, Alan H. Beggs

    出版 2013
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  13. 13
    Mendelian etiologies identified with whole exome sequencing in cerebral palsy

    Mendelian etiologies identified with whole exome sequencing in cerebral palsy 由 Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David L. Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian D. Snyder, Scellig Stone, Ana Ubeda, Colyn J. Watkins, Charles B. Berde, Jeffrey Bolton, Catherine A. Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O’Donnell‐Luria, Alex R. Paciorkowski, Anna Maria Pinto, John Pugh, Lance H. Rodan, Eugene Roe, Lindsay C. Swanson, Bo Zhang, Michael C. Kruer, Mustafa Şahin, Annapurna Poduri, Siddharth Srivastava

    出版 2022
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  14. 14
    Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

    Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy 由 Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari, Emily J. Todd, Pauliina Vornanen, Kyle S. Yau, Yukiko Hayashi, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Hitoshi Osaka, Sumimasa Yamashita, Takashi Ohya, Yuko Sakamoto, Eriko Koshimizu, Shintaro Imamura, Michiaki Yamashita, Kazuhiro Ogata, Masaaki Shiina, Robert J. Bryson‐Richardson, Raquel Vaz, Ö. Ceyhan, Catherine A. Brownstein, Lindsay C. Swanson, Sophie Monnot, Norma B. Romero, Helge Amthor, Nina Kresoje, Padma Sivadorai, Cathy Kiraly‐Borri, Göknur Haliloğlu, Beril Talim, Diclehan Orhan, Gülsev Kale, Adrian Charles, Victoria A. Fabian, Mark R. Davis, Martin Lammens, Caroline A. Sewry, Adnan Manzur, Francesco Muntoni, Nigel F. Clarke, Kathryn N. North, Enrico Bertini, Yoram Nevo, E Willichowski, Inger Elisabeth Silberg, Haluk Topaloğlu, Alan H. Beggs, Richard J. N. Allcock, Ichizo Nishino, Carina Wallgren‐Pettersson, Naomichi Matsumoto, Nigel G. Laing

    出版 2013
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  15. 15
    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy 由 Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, Alla S. Kostyukova, Natalia Moroz, Kate G.R. Quinlan, Vilma‐Lotta Lehtokari, Gianina Ravenscroft, Emily J. Todd, Ozge Ceyhan‐Birsoy, David S. Gokhin, Jérôme Maluenda, Monkol Lek, Flora Nolent, Christopher T. Pappas, Stefanie M. Novak, Adele D’Amico, Edoardo Malfatti, Brett Thomas, Stacey Gabriel, Namrata Gupta, Mark J. Daly, Biljana Ilkovski, Peter J. Houweling, Ann E. Davidson, Lindsay C. Swanson, Catherine A. Brownstein, Vandana Gupta, Līvija Medne, Patrick Shannon, Nicole Martin, David Bick, Anders Flisberg, Eva Holmberg, Peter Van den Bergh, Pablo Lapunzina, Leigh B. Waddell, Darcée D. Sloboda, Enrico Bertini, David Chitayat, William R. Telfer, Annie Laquerrière, Carol C. Gregorio, Coen A. C. Ottenheijm, Carsten G. Bönnemann, Katarina Pelin, Alan H. Beggs, Yukiko Hayashi, Norma B. Romero, Nigel G. Laing, Ichizo Nishino, Carina Wallgren‐Pettersson, Judith Melki, Velia M. Fowler, Daniel G. MacArthur, Kathryn N. North, Nigel F. Clarke

    出版 2014
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  16. 16
    Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Congenital Titinopathy: Comprehensive characterization and pathogenic insights 由 Emily C. Oates, Kristi Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair Corbett, Monique M. Ryan, Gina O’Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, M. Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, M. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James J. Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola Foulds, Marjorie Illingworth, Sian Ellard, Catriona McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, C. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

    出版 2018
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