Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Shereen G. Ghosh(Children’s Institute), Joseph G. Gleeson(Howard Hughes Medical Institute), Tracy Dixon‐Salazar(Lennox-Gastaut Syndrome Foundation), Uluç Yiş(Dokuz Eylül University), Carlo Minetti(Istituto Giannina Gaslini), Mert Karakaya(University of Cologne), Mehran Beiraghi Toosi(Mashhad University of Medical Sciences), Nicole I. Wolf(Emma Kinderziekenhuis), Sebahattin Çırak(University of Cologne), Stéphanie Efthymiou(Queen Mary University of London), Mohammad Doosti, Quinten Waisfisz(University Medical Center Utrecht), Haicui Wang(University Hospital Cologne), Marjan M. Weiss(Radboud University Nijmegen), Lihadh Al‐Gazali(United Arab Emirates University), Kerstin Becker(University Hospital Cologne), Janine Altmüller(University of Cologne), Hölger Thiele(Leipzig Heart Institute), Nafise Amiri(Mashhad University of Medical Sciences), Ehsan Ghayoor Karimani(St George's, University of London), Brunhilde Wirth(University of Cologne), Lisa Weixler(University Hospital Bonn), Keith K. Vaux(University of California San Diego), Guoliang Chai(Children’s Institute), Andreea Manole(National Hospital for Neurology and Neurosurgery), Peter Nürnberg(Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases), Henry Houlden(University College London), Tuncay Derya Okur(Dokuz Eylül University), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Pasquale Striano(Great Ormond Street Hospital), Uğur Akpulat, Elisa De Grandis(Istituto Giannina Gaslini), Ayşe Polat(Mersin Üniversitesi), Livia Pisciotta(Istituto Giannina Gaslini), He Huang(University of California San Diego), Vincenzo Salpietro(National Hospital for Neurology and Neurosurgery), Johanna M. van Hagen(Amsterdam University Medical Centers), Gabriel Haddad(University of California San Diego), Valentina Stanley(Children’s Institute), Michael G. Hanna(National Hospital for Neurology and Neurosurgery)
The American Journal of Human Genetics
August 9, 2018
Cited by 89


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