Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie, Haberlova, Jana, Straub, Volker, Mengle-Gaw, Laurel J, Schwartz, Benjamin D, Harper, Amy D, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michelle L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard, McMillan, Hugh J, Kuntz, Nancy L, Rao, Vashmi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez-Padilla, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, de Groot, Imelda JM, Katsalouli, Marina, James, Meredith K, van den Anker, Johannes, Damsker, Jesse M, Ahmet, Alexandra, Ward, Leanne M, Jaros, Mark, Shale, Phil, Dang, Utkarsh J, Hoffman, Eric P
Published in Archives of neurology (Chicago) (01.10.2022)
Published in Archives of neurology (Chicago) (01.10.2022)
Get full text
Journal Article
Ankle contractures and functional motor decline in Duchenne muscular dystrophy
Woof, Angelina L., Selby, Kathryn, Harris, Susan R.
Published in Brain & development (Tokyo. 1979) (01.02.2022)
Published in Brain & development (Tokyo. 1979) (01.02.2022)
Get full text
Journal Article
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Rodríguez Cruz, Pedro M, Cossins, Judith, Estephan, Eduardo de Paula, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David
Published in Brain (London, England : 1878) (01.06.2019)
Published in Brain (London, England : 1878) (01.06.2019)
Get full text
Journal Article
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.
Published in Molecular genetics and metabolism (01.08.2019)
Published in Molecular genetics and metabolism (01.08.2019)
Get full text
Journal Article
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial
Dang, Utkarsh J, Damsker, Jesse M, Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie M, Haberlová, Jana, Straub, Volker, Mengle-Gaw, Laurel, Schwartz, Benjamin D, Harper, Amy, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michele L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard I, Mcmillan, Hugh J, Kuntz, Nancy, Rao, Vamshi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, De Groot, Imelda J M, Katsalouli, Marina, Van Den Anker, John N, Ward, Leanne M, Leinonen, Mika, D'Alessandro, Andrea L, Hoffman, Eric P
Published in Neurology (12.03.2024)
Published in Neurology (12.03.2024)
Get more information
Journal Article
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
Deguise, Marc‐Olivier, Baranello, Giovanni, Mastella, Chiara, Beauvais, Ariane, Michaud, Jean, Leone, Alessandro, De Amicis, Ramona, Battezzati, Alberto, Dunham, Christopher, Selby, Kathryn, Warman Chardon, Jodi, McMillan, Hugh J., Huang, Yu‐Ting, Courtney, Natalie L., Mole, Alannah J., Kubinski, Sabrina, Claus, Peter, Murray, Lyndsay M., Bowerman, Melissa, Gillingwater, Thomas H., Bertoli, Simona, Parson, Simon H., Kothary, Rashmi
Published in Annals of clinical and translational neurology (01.08.2019)
Published in Annals of clinical and translational neurology (01.08.2019)
Get full text
Journal Article
Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada
Yea, Carmen, Bitnun, Ari, Robinson, Joan, Mineyko, Aleksandra, Barton, Michelle, Mah, Jean K, Vajsar, Jiri, Richardson, Susan, Licht, Christoph, Brophy, Jason, Crone, Megan, Desai, Shalini, Hukin, Juliette, Jones, Kevin, Muir, Katherine, Pernica, Jeffrey M, Pless, Robert, Pohl, Daniela, Rafay, Mubeen F, Selby, Kathryn, Venkateswaran, Sunita, Bernard, Geneviève, Yeh, E Ann
Published in Journal of child neurology (01.03.2017)
Published in Journal of child neurology (01.03.2017)
Get more information
Journal Article
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency
Yeganeh, Mehdi, March, Kaitlin, Jones, Catherine, Ho, Gloria, Selby, Kathryn A., Chanoine, Jean-Pierre, Stockler, Sylvia, Salvarinova, Ramona, Horvath, Gabriella, Brunel-Guitton, Catherine
Published in Molecular genetics and metabolism reports (01.06.2023)
Published in Molecular genetics and metabolism reports (01.06.2023)
Get full text
Journal Article
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J
Published in Frontiers in neurology (21.05.2019)
Published in Frontiers in neurology (21.05.2019)
Get full text
Journal Article
Effects of Bisphosphonate Therapy on Bone Mineral Density in Boys with Duchenne Muscular Dystrophy
Ronsley, Rebecca, Islam, Nazrul, Kang, Mehima, Nadel, Helen, Reilly, Christopher, Metzger, Daniel, Selby, Kathryn, Panagiotopoulos, Constadina
Published in Clinical medicine insights. Endocrinology and diabetes (2020)
Published in Clinical medicine insights. Endocrinology and diabetes (2020)
Get full text
Journal Article
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
Tarailo‐Graovac, Maja, Zahir, Farah R., Zivkovic, Irena, Moksa, Michelle, Selby, Kathryn, Sinha, Sunita, Nislow, Corey, Stockler‐Ipsiroglu, Sylvia G., Sheffer, Ruth, Saada‐Reisch, Ann, Friedman, Jan M., Karnebeek, Clara D. M., Horvath, Gabriella A.
Published in Molecular genetics & genomic medicine (01.10.2019)
Published in Molecular genetics & genomic medicine (01.10.2019)
Get full text
Journal Article
Myostatin inhibitor ACE‐031 treatment of ambulatory boys with Duchenne muscular dystrophy: Results of a randomized, placebo‐controlled clinical trial
Campbell, Craig, McMillan, Hugh J., Mah, Jean K., Tarnopolsky, Mark, Selby, Kathryn, McClure, Ty, Wilson, Dawn M., Sherman, Matthew L., Escolar, Diana, Attie, Kenneth M.
Published in Muscle & nerve (01.04.2017)
Published in Muscle & nerve (01.04.2017)
Get full text
Journal Article
Total functional workspace volume in youth with spinal muscular atrophy: A pilot study
Gravel, Cedric, Chen, Xing, Eggenspieler, Damien, Herzig, David, Gottowik, Juergen, Mcintyre, Leigh, Selby, Kathryn, Oskoui, Maryam
Published in Journal of the neurological sciences (01.12.2023)
Published in Journal of the neurological sciences (01.12.2023)
Get full text
Journal Article
Opsoclonus-myoclonus syndrome: a new era of improved prognosis?
Galstyan, Armine, Wilbur, Colin, Selby, Kathryn, Hukin, Juliette
Published in Pediatric neurology (01.07.2017)
Published in Pediatric neurology (01.07.2017)
Get full text
Journal Article
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, Mercuri, Eugenio, Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe
Published in The Lancet (British edition) (23.09.2017)
Published in The Lancet (British edition) (23.09.2017)
Get full text
Journal Article
Exome Sequencing and the Management of Neurometabolic Disorders
Tarailo-Graovac, Maja, Shyr, Casper, Ross, Colin J, Horvath, Gabriella A, Salvarinova, Ramona, Ye, Xin C, Zhang, Lin-Hua, Bhavsar, Amit P, Lee, Jessica J.Y, Drögemöller, Britt I, Abdelsayed, Mena, Alfadhel, Majid, Armstrong, Linlea, Baumgartner, Matthias R, Burda, Patricie, Connolly, Mary B, Cameron, Jessie, Demos, Michelle, Dewan, Tammie, Dionne, Janis, Evans, A. Mark, Friedman, Jan M, Garber, Ian, Lewis, Suzanne, Ling, Jiqiang, Mandal, Rupasri, Mattman, Andre, McKinnon, Margaret, Michoulas, Aspasia, Metzger, Daniel, Ogunbayo, Oluseye A, Rakic, Bojana, Rozmus, Jacob, Ruben, Peter, Sayson, Bryan, Santra, Saikat, Schultz, Kirk R, Selby, Kathryn, Shekel, Paul, Sirrs, Sandra, Skrypnyk, Cristina, Superti-Furga, Andrea, Turvey, Stuart E, Van Allen, Margot I, Wishart, David, Wu, Jiang, Wu, John, Zafeiriou, Dimitrios, Kluijtmans, Leo, Wevers, Ron A, Eydoux, Patrice, Lehman, Anna M, Vallance, Hilary, Stockler-Ipsiroglu, Sylvia, Sinclair, Graham, Wasserman, Wyeth W, van Karnebeek, Clara D
Published in The New England journal of medicine (09.06.2016)
Published in The New England journal of medicine (09.06.2016)
Get full text
Journal Article
Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond
Groulx-Boivin, Emilie, Osman, Homira, Chakraborty, Pranesh, Lintern, Stacey, Oskoui, Maryam, Selby, Kathryn, Van Caeseele, Paul, Wyatt, Alexandra, McMillan, Hugh J.
Published in Canadian journal of neurological sciences (01.03.2024)
Published in Canadian journal of neurological sciences (01.03.2024)
Get full text
Journal Article
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Mercuri, Eugenio, Vilchez, Juan J, Boespflug-Tanguy, Odile, Zaidman, Craig M, Mah, Jean K, Goemans, Nathalie, Müller-Felber, Wolfgang, Niks, Erik H, Schara-Schmidt, Ulrike, Bertini, Enrico, Comi, Giacomo P, Mathews, Katherine D, Servais, Laurent, Vandenborne, Krista, Johannsen, Jessika, Messina, Sonia, Spinty, Stefan, McAdam, Laura, Selby, Kathryn, Byrne, Barry, Laverty, Chamindra G, Carroll, Kevin, Zardi, Giulia, Cazzaniga, Sara, Coceani, Nicoletta, Bettica, Paolo, McDonald, Craig M, Acsadi, Gyula, Baranello, Giovanni, Blaschek, Astrid, Brandsema, John, Brogna, Claudia, Bruno, Claudio, Connolly, Anne, de Groot, Imelda, De Waele, Liesbeth, Finanger, Erika, Finkel, Richard, Gidaro, Teresa, Guglieri, Michaela, Harper, Amy, Lopez Lobato, Mercedes, Madruga Garrido, Marcos, Magri, Francesca, Manousakis, Georgios, Masson, Riccardo, Monduy, Migvis, Muelas Gomez, Nuria, Munell, Francina, Nascimento, Andres, Nevo, Yoram, Pereon, Yann, Phan, Han, Sansone, Valeria, Scoto, Mariacristina, Vucinic, Dragana, Willis, Tracey
Published in Lancet neurology (01.04.2024)
Published in Lancet neurology (01.04.2024)
Get full text
Journal Article
Improved strength on 5-hydroxytryptophan and carbidopa in spinal cord atrophy
Horvath, Gabriella A, Meisner, Lorelyn, Selby, Kathryn, Stowe, Robert, Carleton, Bruce
Published in Journal of the neurological sciences (15.07.2017)
Published in Journal of the neurological sciences (15.07.2017)
Get full text
Journal Article
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
Victor, Ronald G, Sweeney, H Lee, Finkel, Richard, McDonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David
Published in Neurology (24.10.2017)
Published in Neurology (24.10.2017)
Get more information
Journal Article