Associated Papers
An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.
Bannister M et al.
Hgg Advances, 2025
39580621 (PubMed )
Supplement: mmc2.pdf
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
Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).
Lindskov FO et al.
Cerebellum (london, England), 2024
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
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Danhauser K 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
35693655 (PubMed )
Supplement: AIAN-25-292_Suppl1.pdf
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