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1
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrola..:
Ghosh, Shereen G
;
Becker, Kerstin
;
Huang, He
...
qt0p70k5s6. , 2018
Link:
https://escholarship.org/uc/item/0p70k5s6
RT Journal T1
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt0p70k5s6&Exemplar=1&LAN=DE A1 Ghosh, Shereen G A1 Becker, Kerstin A1 Huang, He A1 Dixon-Salazar, Tracy A1 Chai, Guoliang A1 Salpietro, Vincenzo A1 Al-Gazali, Lihadh A1 Waisfisz, Quinten A1 Wang, Haicui A1 Vaux, Keith K A1 Stanley, Valentina A1 Manole, Andreea A1 Akpulat, Ugur A1 Weiss, Marjan M A1 Efthymiou, Stephanie A1 Hanna, Michael G A1 Minetti, Carlo A1 Striano, Pasquale A1 Pisciotta, Livia A1 De Grandis, Elisa A1 Altmüller, Janine A1 Weixler, Lisa A1 Nürnberg, Peter A1 Thiele, Holger A1 Yis, Uluc A1 Okur, Tuncay Derya A1 Polat, Ayse Ipek A1 Amiri, Nafise A1 Doosti, Mohammad A1 Karimani, Ehsan Ghayoor A1 Toosi, Mehran B A1 Haddad, Gabriel A1 Karakaya, Mert A1 Wirth, Brunhilde A1 van Hagen, Johanna M A1 Wolf, Nicole I A1 Maroofian, Reza A1 Houlden, Henry A1 Cirak, Sebahattin A1 Gleeson, Joseph G PB eScholarship, University of California YR 2018 K1 Biochemistry and Cell Biology K1 Genetics K1 Biological Sciences K1 Epilepsy K1 Pediatric K1 Brain Disorders K1 Neurosciences K1 Rare Diseases K1 Neurodegenerative K1 Aetiology K1 2.1 Biological and endogenous factors K1 Neurological K1 ADP-ribosylation K1 ADPRHL2 K1 ARH3 K1 SUDEP K1 ataxia K1 neurodegeneration K1 neuropathy K1 oxidative stress K1 poly-ADP ribose K1 Medical and Health Sciences K1 Genetics & Heredity K1 Biomedical and clinical sciences K1 Health sciences JF qt0p70k5s6 LK http://dx.doi.org/https://escholarship.org/uc/item/0p70k5s6 DO https://escholarship.org/uc/item/0p70k5s6 SF ELIB - SuUB Bremen
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