Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

Autor: Deconinck, Nicolas, Van Coster, Rudy, Vanlander, Arnaud, Seferian, Andreea, De Lucia, Silvana, Gidaro, Teresa, Brande, Laura Vanden, Servais, Laurent, Kirschner, Janbernd, Borell, Sabine, Mercuri, Eugenio, Brogna, Claudia, Pane, Marika, Fanelli, Lavinia, Norcia, Giulia, Muntoni, Francesco, Brusa, Chiara, Chesshyre, Mary, Maresh, Kate, Pitchforth, Jaqueline, Schottlaender, Lucia, Scoto, Mariacristina, Silwal, Arpana, Trucco, Fedrica, Mercuri, E., Seferian, A.M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F.

Publikováno v: In Neuromuscular Disorders June 2023 33(6):476-483

IRF2BPL Is Associated with Neurological Phenotypes

Autor: Callens, Steven, Coucke, Paul, Dermaut, Bart, Hemelsoet, Dimitri, Poppe, Bruce, Steyaert, Wouter, Terryn, Wim, Van Coster, Rudy, Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Lipson, Allen, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zastrow, Diane B., Zheng, Allison, Marcogliese, Paul C., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Graham, John M., Jr., Ortiz, Damara, Infante, Elena, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Wangler, Michael F., Mirzaa, Ghayda, Lee, Brendan, Nelson, Stanley F., Bellen, Hugo J.

Publikováno v: In The American Journal of Human Genetics 2 August 2018 103(2):245-260

Multiple sclerosis in Belgian children: A multicentre retrospective study

Autor: Verhelst, Helene, De Waele, Liesbeth, Deconinck, Nicolas, Ceulemans, Berten, Willekens, Barbara, Van Coster, Rudy

Publikováno v: In European Journal of Paediatric Neurology March 2017 21(2):358-366

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients

Autor: Dewulf, Joseph P., Barrea, Catherine, Vincent, Marie-Françoise, De Laet, Corinne, Van Coster, Rudy, Seneca, Sara, Marie, Sandrine, Nassogne, Marie-Cécile

Publikováno v: In Molecular Genetics and Metabolism July 2016 118(3):185-189

Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation

Autor: Peeters, Annelies, Shinde, Abhijit Babaji, Dirkx, Ruud, Smet, Joél, De Bock, Katrien, Espeel, Marc, Vanhorebeek, Ilse, Vanlander, Arnaud, Van Coster, Rudy, Carmeliet, Peter, Fransen, Marc, Van Veldhoven, Paul P., Baes, Myriam

Publikováno v: In BBA - Molecular Cell Research February 2015 1853(2):285-298