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Ugur Akpulat Selected Research

ADP-ribosylarginine hydrolase

12/2021Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
11/2018Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
1/2018Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

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Ugur Akpulat Research Topics

Disease

3Ataxia (Dyssynergia)
12/2021 - 01/2018
1Inborn Genetic Diseases (Disease, Hereditary)
01/2021
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
12/2018
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
11/2017

Drug/Important Bio-Agent (IBA)

3ADP-ribosylarginine hydrolaseIBA
12/2021 - 01/2018
1DisulfidesIBA
01/2021
1NucleotidesIBA
01/2021
1Oxidoreductases (Dehydrogenase)IBA
01/2021
1pyridineIBA
01/2021
1DystrophinIBA
12/2018
1choline transporterIBA
11/2017