Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Titel:
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Auteur:
Ghosh, Shereen G. Becker, Kerstin Huang, He Salazar, Tracy D. Chai, Guoliang Salpietro, Vincenzo Al-Gazali, Lihadh Waisfisz, Quinten Wang, Haicui Vaux, Keith K. Stanley, Valentina Manole, Andreea Akpulat, Ugur Weiss, Marjan M. Efthymiou, Stephanie Hanna, Michael G. Minetti, Carlo Striano, Pasquale Pisciotta, Livia De Grandis, Elisa Altmüller, Janine Weixler, Lisa Nürnberg, Peter Thiele, Holger Yis, Uluc Okur, Tuncay Derya Polat, Ayse Ipek Amiri, Nafise Doosti, Mohammad Karimani, Ehsan Ghayoor Toosi, Mehran B. Haddad, Gabriel Karakaya, Mert Wirth, Brunhilde van Hagen, Johanna M. Wolf, Nicole I. Maroofian, Reza Houlden, Henry Cirak, Sebahattin Gleeson, Joseph G.