Treatment of pediatric chronic inflammatory demyelinating polyneuropathy: Challenges, controversies and questions

por Desai, Jay, Ramos-Platt, Leigh, Mitchell, Wendy G.
Publicado 2015

Immunotherapy responsive SARS-CoV-2 infection exacerbating opsoclonus myoclonus syndrome

por Wiegand, Sarah E., Mitchell, Wendy G., Santoro, Jonathan D.
Publicado 2021

m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome

por Jean, Jeffrey, Christodoulou, Eirini, Gai, Xiaowu, Tamrazi, Benita, Vera, Moin, Mitchell, Wendy G., Schmidt, Ryan J.
Publicado 2022

Stable dosages of clobazam for Lennox-Gastaut syndrome are associated with sustained drop-seizure and total-seizure improvements over 3 years

por Conry, Joan A, Ng, Yu-Tze, Kernitsky, Lydia, Mitchell, Wendy G, Veidemanis, Rima, Drummond, Rebecca, Isojarvi, Jouko, Lee, Deborah, Paolicchi, Juliann M
Publicado 2014

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

por Souza, Ivana A., Gandini, Maria A., Zhang, Fang-Xiong, Mitchell, Wendy G., Matsumoto, Joyce, Lerner, Jason, Pierson, Tyler Mark, Zamponi, Gerald W.
Publicado 2019

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases

por Jafarpour, Saba, Banerjee, Abhik, Boyd, Natalie K., Vogel, Benjamin N., Paulsen, Kelli C., Ahsan, Nusrat, Mitchell, Wendy G., Jeste, Shafali S., Santoro, Jonathan D.
Publicado 2022

Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective

por Rossor, Thomas, Yeh, E. Ann, Khakoo, Yasmin, Angelini, Paola, Hemingway, Cheryl, Irani, Sarosh R., Schleiermacher, Gudrun, Santosh, Paramala, Lotze, Tim, Dale, Russell C., Deiva, Kumaran, Hero, Barbara, Klein, Andrea, de Alarcon, Pedro, Gorman, Mark P., Mitchell, Wendy G., Lim, Ming
Publicado 2022

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

por Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E., Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G., Boles, Richard G., Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A., Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa
Publicado 2016

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

por Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno
Publicado 2020