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

TitleBiallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Publication TypeJournal Article
AuthorsGhosh, SG, Becker, K, Huang, H, Dixon-Salazar, T, Chai, G, Salpietro, V, Al-Gazali, L, Waisfisz, Q, Wang, H, Vaux, KK, Stanley, V, Manole, A, Akpulat, U, Weiss, MM, Efthymiou, S, Hanna, MG, Minetti, C, Striano, P, Pisciotta, L, De Grandis, E, Altmüller, J, Nürnberg, P, Thiele, H, Yis, U, Okur, TDerya, Polat, AIpek, Amiri, N, Doosti, M, Karimani, EGhayoor, Toosi, MB, Haddad, G, Karakaya, M, Wirth, B, van Hagen, JM, Wolf, NI, Maroofian, R, Houlden, H, Cirak, S, Gleeson, JG
PubMed ID30100084
PubMed Central IDPMC6128219
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
U54 HG003067 / HG / NHGRI NIH HHS / United States
R01 NS048453 / NS / NINDS NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
R01 NS052455 / NS / NINDS NIH HHS / United States
T32 GM008666 / GM / NIGMS NIH HHS / United States
/ / Wellcome Trust / United Kingdom
F31 HD095602 / HD / NICHD NIH HHS / United States