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

  • Shereen G. Ghosh
  • , Kerstin Becker
  • , He Huang
  • , Tracy Dixon-Salazar
  • , Guoliang Chai
  • , Vincenzo Salpietro
  • , Lihadh Al-Gazali
  • , Quinten Waisfisz
  • , Haicui Wang
  • , Keith K. Vaux
  • , Valentina Stanley
  • , Andreea Manole
  • , Ugur Akpulat
  • , Marjan M. Weiss
  • , Stephanie Efthymiou
  • , Michael G. Hanna
  • , Carlo Minetti
  • , Pasquale Striano
  • , Livia Pisciotta
  • , Elisa De Grandis
  • Janine Altmüller, Peter Nürnberg, Holger Thiele, Uluc Yis, Tuncay Derya Okur, Ayse Ipek Polat, Nafise Amiri, Mohammad Doosti, Ehsan Ghayoor Karimani, Mehran B. Toosi, Gabriel Haddad, Mert Karakaya, Brunhilde Wirth, Johanna M. van Hagen, Nicole I. Wolf, Reza Maroofian, Henry Houlden, Sebahattin Cirak, Joseph G. Gleeson

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Biochemistry, Genetics and Molecular Biology

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