Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study

por Geraldo, Ana Filipa, Alves, Cesar Augusto P. F., Luis, Aysha, Tortora, Domenico, Guimarães, Joana, Abreu, Daisy, Reimão, Sofia, Pavanello, Marco, de Marco, Patrizia, Scala, Marcello, Capra, Valeria, Vaz, Rui, Rossi, Andrea, Schwartz, Erin Simon, Mankad, Kshitij, Severino, Mariasavina
Publicado 2022

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

por Priestley, Jessica R.C., Pace, Lisa M., Sen, Kuntal, Aggarwal, Anjali, Alves, Cesar Augusto P.F., Campbell, Ian M., Cuddapah, Sanmati R., Engelhardt, Nicole M., Eskandar, Marina, Jolín García, Paloma C., Gropman, Andrea, Helbig, Ingo, Hong, Xinying, Gowda, Vykuntaraju K., Lusk, Laina, Trapane, Pamela, Srinivasan, Varunvenkat M., Suwannarat, Pim, Ganetzky, Rebecca D.
Publicado 2022