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Article

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

9 Aug 2018

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30100084
DOI: 10.1016/j.ajhg.2018.07.010

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromePMID 30100084Read ↗

Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2Semantic proximity Read ↗

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.Semantic proximity Read ↗

An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.Semantic proximity Read ↗

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathySemantic proximity Read ↗

A novel variant in <i>ADPRS</i> disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failureSemantic proximity Read ↗

Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case ReportSemantic proximity Read ↗

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response.Semantic proximity Read ↗

Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).Semantic proximity Read ↗

Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Can Include Severe Primary HypogonadismSemantic proximity Read ↗

Exploring Potential Minocycline–ARH3 Interactions in <i>ADPRHL2</i> -Associated CONDSIAS: A Translational Clinical and Computational StudySemantic proximity Read ↗

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus.Semantic proximity Read ↗

ADP-ribosylation signalling and human diseaseSemantic proximity Read ↗

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