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

2021 ◽  
Vol 108 (12) ◽  
pp. 2385
Author(s):  
Shereen G. Ghosh ◽  
Kerstin Becker ◽  
He Huang ◽  
Tracy D. Salazar ◽  
Guoliang Chai ◽  
...  
Keyword(s):  
Ataxia Syndrome ◽  
Biallelic Mutations

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

2018 ◽  
Vol 103 (5) ◽  
pp. 826 ◽  
Author(s):  
Shereen G. Ghosh ◽  
Kerstin Becker ◽  
He Huang ◽  
Tracy Dixon-Salazar ◽  
Guoliang Chai ◽  
...  
Keyword(s):  
Ataxia Syndrome ◽  
Biallelic Mutations

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

2018 ◽  
Vol 103 (3) ◽  
pp. 431-439 ◽  
Author(s):  
Shereen G. Ghosh ◽  
Kerstin Becker ◽  
He Huang ◽  
Tracy Dixon-Salazar ◽  
Guoliang Chai ◽  
...  
Keyword(s):  
Ataxia Syndrome ◽  
Biallelic Mutations

Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients

2019 ◽  
Author(s):  
C. Mignot ◽  
R. Bunod ◽  
D. Doummar ◽  
A. Isapof ◽  
A. Afenjar ◽  
...  
Keyword(s):  
Biallelic Mutations

Opsoclonus-Myoclonus-Ataxia Syndrome in Children: Clinical Characteristics and Treatment Response

2016 ◽  
Vol 24 (4) ◽  
pp. 251-256
Author(s):  
조재소 ◽  
김수연 ◽  
최선아 ◽  
채종희 ◽  
임병찬 ◽  
...  
Keyword(s):  
Treatment Response ◽  
Clinical Characteristics ◽  
Ataxia Syndrome
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