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

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

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.

Am J Hum Genet ; 108(12): 2385, 2021 Dec 02.

Article in En | MEDLINE | ID: mdl-34861176

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Am J Hum Genet Year: 2021 Document type: Article Publication country: EEUU / ESTADOS UNIDOS / ESTADOS UNIDOS DA AMERICA / EUA / UNITED STATES / UNITED STATES OF AMERICA / US / USA

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