Canlyniadau Chwilio - Kathryn Selby
- Dangos 1 - 13 canlyniadau o 13
-
1
-
2
A Population-Based Study of Dystrophin Mutations in Canada gan Jean K. Mah, Kathryn Selby, Craig Campbell, Amélie Nadeau, Mark A. Tarnopolsky, Anna McCormick, Joseph M. Dooley, Hanna Kolski, Andrew J. Skalsky, Rupert Smith, David Buckley, Peter N. Ray, Grace Yoon
Cyhoeddwyd 2011Artigo -
3
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy gan Marc‐Olivier Deguise, Giovanni Baranello, Chiara Mastella, Ariane Beauvais, Jean Michaud, Alessandro Leone, Ramona De Amicis, Alberto Battezzati, Christopher Dunham, Kathryn Selby, Jodi Warman‐Chardon, Hugh J. McMillan, Yuting Huang, Natalie L. Courtney, Alannah J. Mole, Sabrina Kubinski, Peter Claus, Lyndsay M. Murray, Mélissa Bowerman, Thomas H. Gillingwater, Simona Bertoli, Simon H. Parson, Rashmi Kothary
Cyhoeddwyd 2019Artigo -
4
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy gan Michelle Demos, Ilaria Guella, C DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric Toyota, Cyrus Boelman, Linda Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce Björnson, Gabriella Horváth, Elena Lopez‐Rangel, Clara van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary Connolly, Matthew J. Farrer
Cyhoeddwyd 2019Artigo -
5
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations gan Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabriel Chow, Aisling Carr, Adnan Manzur, S. Robb, Pinki Munot, Weiwei Liu, Siddharth Banka, Harry Fraser, Christian de Goede, Edmar Zanoteli, Umbertina Conti Reed, Abigail Sage, M. Gratacós, Alfons Macaya, Marina Dusl, Jan Senderek, Ana Töpf, Monika Hofer, Ravi Knight, Sithara Ramdas, Sandeep Jayawant, Hanns Lochmüller, Jacqueline Palace, David Beeson
Cyhoeddwyd 2019Artigo -
6
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients gan Craig M. McDonald, Francesco Muntoni, Vinay Penematsa, Joel Jiang, Allan Kristensen, Francesco Bibbiani, Elizabeth Goodwin, Heather Gordish‐Dressman, Lauren P. Morgenroth, Christian Werner, James Li, Richard Able, Panayiota Trifillis, M. Tulinius, Monique M. Ryan, Kelly Jones, N. Goemans, Craig Campbell, JK Mah, Kathryn Selby, B. Chabrol, Yann Péréon, Thomas Voït, Teresa Gidaro, Ulrike Schara, J. Kirschner, Yoram Nevo, GP Comi, Enrico Bertini, Elisa Mercuri, Jaume Colomer, A. Nascimento, Juan J. Vílchez, M. Tulinius, Thomas Sejersen, Francesco Muntoni, K. Bushby, Michela Guglieri
Cyhoeddwyd 2021Artigo -
7
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy gan Craig Campbell, Richard J. Barohn, Enrico Bertini, B. Chabrol, Giacomo P. Comi, Basil T. Darras, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Susan T. Iannaccone, Kristi Jones, Janbernd Kirschner, Jean K. Mah, Katherine D. Mathews, Craig M. McDonald, Eugenio Mercuri, Yoram Nevo, Yann Péréon, J. Ben Renfroe, Monique M. Ryan, Jacinda B. Sampson, Ulrike Schara, Thomas Sejersen, Kathryn Selby, M. Tulinius, Juan J. Vílchez, Thomas Voït, L. J. Wei, Brenda Wong, Gary Elfring, Marcio Ferreira de Souza, Joseph McIntosh, Panayiota Trifillis, Stuart W. Peltz, Francesco Muntoni
Cyhoeddwyd 2020Revisão -
8
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy gan Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlová, Volker Straub, L. Mengle-Gaw, Benjamin D. Schwartz, Amy D. Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michelle Yang, Monique M. Ryan, Craig M. McDonald, M. Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vashmi K. Rao, Giovanni Baranello, Stefan Spinty, Anne‐Marie Childs, Annie M. Sbrocchi, Kathryn Selby, Migvis Monduy, Yoram Nevo, Juan J. Vílchez, Andres Nascimento-Osorio, Erik H. Niks, Imelda J. M. de Groot, Marina Katsalouli, M. James, John van den Anker, Jesse M. Damsker, Alexandra Ahmet, Leanne M. Ward, Mark Jaros, Phil Shale, Utkarsh J. Dang, Eric P. Hoffman
Cyhoeddwyd 2022Artigo -
9
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy gan Utkarsh J. Dang, Jesse M. Damsker, Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlová, Volker Straub, L. Mengle-Gaw, Benjamin D. Schwartz, Amy Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michele Yang, Monique M. Ryan, Craig M. McDonald, M. Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vamshi K. Rao, Giovanni Baranello, Stefan Spinty, Anne‐Marie Childs, Annie M. Sbrocchi, Kathryn Selby, Migvis Monduy, Yoram Nevo, Juan J. Vílchez, Andres Nascimento-Osorio, Erik H. Niks, Imelda J. M. de Groot, Marina Katsalouli, John N. van den Anker, Leanne M. Ward, Mika Leinonen, Andrea L. D'Alessandro, Eric P. Hoffman
Cyhoeddwyd 2024Artigo -
10
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy gan Nathalie Goemans, Eugenio Mercuri, Е. Д. Белоусова, Hirofumi Komaki, Alberto Dubrovsky, Craig M. McDonald, John E. Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X. Wang, Craig Campbell, Abelardo Araújo, Enrico Bertini, Peter Born, Claude Cancès, B. Chabrol, Jong‐Hee Chae, J. Colomer Oferil, Giacomo P. Comi, J. Cuisset, Guy D’Anjou, Isabelle Desguerre, Ricardo Erazo Torricelli, Raúl G. Escobar, David Feder, Alessandra Ferlini, Roberto Giugliani, Erik Henricson, Ágnes Herczegfalvi, Yuh‐Jyh Jong, Shigemi Kimura, Janbernd Kirschner, Karin Kleinsteuber, Anna Kostera‐Pruszczyk, Martin Kudr, Wolfgang Mueller‐Felber, Erik H. Niks, Katsuhisa Ogata, Concetta Palermo, Marika Pane, Samuel Ignacio Pascual Pascual, Yann Péréon, Salmo Raskin, Magnhild Rasmussen, U.C. Reed, Ulrike Schara, Kathryn Selby, Cláudia Ferreira da Rosa Sobreira, Yasuhiro Takeshima, Juan J. Vílchez, Gian Luca Vita, Petr Vondráček, Gert Wiegand, Ekkehard Wilichowski
Cyhoeddwyd 2017Artigo -
11
Exome Sequencing and the Management of Neurometabolic Disorders gan Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross, Gabriella Horváth, Ramona Salvarinova, Xin C. Ye, Lin-Hua Zhang, Amit P. Bhavsar, Jessica J. Y. Lee, Britt I. Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R. Baumgartner, Patricie Burda, Mary Connolly, Jessie M. Cameron, Michelle Demos, Tammie Dewan, Janis M. Dionne, A. Mark Evans, Jan M. Friedman, Ian Garber, M. E. Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, André Mattman, Margaret L. McKinnon, Aspasia Michoulas, Daniel L. Metzger, Oluseye A. Ogunbayo, Bojana Rakić, Jacob Rozmus, Peter C. Ruben, Bryan Sayson, Saikat Santra, Kirk R. Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti‐Furga, Stuart E. Turvey, Margot I. Van Allen, David S. Wishart, Jiang Wu, John K. Wu, Dimitrios Zafeiriou, Leo A. J. Kluijtmans, Ron A. Wevers, Patrice Eydoux, Anna Lehman, Hilary Vallance, Sylvia Stöckler‐Ipsiroglu, Graham Sinclair, Wyeth W. Wasserman, Clara D.M. van Karnebeek
Cyhoeddwyd 2016Artigo -
12
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial gan Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kamińska, Janbernd Kirschner, Francesco Muntoni, A. Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B. Shieh, H. Lee Sweeney, Haluk Topaloğlu, M. Tulinius, Juan J. Vílchez, Thomas Voït, Brenda Wong, Gary Elfring, Hans Kröger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Ferreira de Souza, Robert J. Spiegel, Stuart W. Peltz, Eugenio Mercuri, Lindsay N. Alfano, Michelle Eagle, M. James, Linda Lowes, Anna Mayhew, Elena Mazzone, Leslie Nelson, Kristy Rose, Hoda Abdel‐Hamid, Susan Apkon, Richard J. Barohn, Enrico Bertini, Clemens Bloetzer, Lausanne Canton de Vaud, Russell J. Butterfield, B. Chabrol, Jong‐Hee Chae, Daehak-ro Jongno-gu, Giacomi Pietro Comi, Basil T. Darras, Jahannaz Dastgir, Isabelle Desguerre, Raúl G. Escobar, Erika Finanger, Michela Guglieri, Imelda Hughes, Susan T. Iannaccone, Kristi Jones, Peter Karachunski, Martin Kudr, Timothy Lotze, Jean K. Mah, Katherine D. Mathews, Yoram Nevo, Julie Parsons, Yann Péréon, Alexandra Prufer de Queiroz Campos Araújo, J. Ben Renfroe, Maria Bernadete Dutra de Resende, Monique M. Ryan, Kathryn Selby, Gihan Tennekoon, Giuseppe Vita
Cyhoeddwyd 2017Artigo -
13
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy gan Ronald G. Victor, H. Lee Sweeney, Richard S. Finkel, Craig M. McDonald, Barry J. Byrne, Michelle Eagle, Nathalie Goemans, Krista Vandenborne, Alberto Dubrovsky, Haluk Topaloğlu, M. Carrie Miceli, Pat Furlong, John Landry, Robert M. Elashoff, David A. Cox, Hoda Abdel‐Hamid, Susan Apkon, Richard J. Barohn, Е. Д. Белоусова, Enrico Bertini, John F. Brandsema, Claudio Bruno, W. Bryan Burnette, Russell J. Butterfield, Barry J. Byrne, Craig Campbell, Jose Carlo, Jong‐Hee Chae, Saleel Chandratre, Giacomo P. Comi, Anne M. Connolly, Imelda J. M. de Groot, Nicolas Deconinck, Joseph Dooley, Alberto Dubrovsky, Julien Durigneux, Erika Finanger, Richard S. Finkel, Loren M. Frank, Nathalie Goemans, Amy Harper, Ayako Hattori, Özlem Hergüner, Susan T. Iannaccone, Joanne Janas, Yuh‐Jyh Jong, Janbernd Kirschner, Hirofumi Komaki, Nancy L. Kuntz, Wang‐Tso Lee, Edward Leung, Jean K. Mah, Katherine D. Mathews, Craig M. McDonald, Eugenio Mercuri, Hugh J. McMillan, Wolfgang Mueller‐Felber, Adolfo López de Munaín, Akinori Nakamura, Erik H. Niks, Katsuhisa Ogata, Samuel Ignacio Pascual Pascual, Elena Pegoraro, Yann Péréon, Ben Renfroe, Ratna Bhavaraju Sanka, Jens Schallner, Ulrike Schara, Kathryn Selby, Isabel Illa Sendra, Laurent Servais, Edward C. Smith, Susan Sparks, Haluk Topaloğlu, R Medina Victor, Juan J. Vílchez, Matthew Wicklund, Ekkehard Wilichoswki, Brenda Wong
Cyhoeddwyd 2017Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Medicine
Internal medicine
Duchenne muscular dystrophy
Pathology
Biology
Gene
Alternative medicine
Mutation
Physical therapy
Placebo
Genetics
Randomized controlled trial
Ambulatory
Missense mutation
Nonsense mutation
Pediatrics
Adverse effect
Biochemistry
Bioinformatics
Chemistry
Clinical endpoint
Clinical trial
Disease
Endocrinology
Environmental health
Exome
Exome sequencing
Muscular dystrophy
Neuroscience
Population