Associated Papers
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
Gavaz M et al.
Journal of Neurogenetics, 2024
39654149 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_materials
A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.
Bannister M et al.
Biorxiv : the Preprint Server for Biology, 2024
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.
Öz Yıldız S et al.
Neuropediatrics, 2024
Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).
Lindskov FO et al.
Cerebellum (london, England), 2024
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response.
Beijer D et al.
Life Science Alliance, 2021
Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report.
Ma J et al.
Frontiers in Genetics, 2021
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.
Aryan H et al.
Bmc Neurology, 2020
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.
Hanzlikova H et al.
Nature Communications, 2020
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Ghosh SG et al.
American Journal of Human Genetics, 2018
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks: Phenotypic Variability of the Same Mutation in Two Turkish Patients.
Ozturk G et al.
Annals of Indian Academy of Neurology, 0
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