Associated Papers
Molecular mechanisms of mitochondrial AAA+ proteases.
Currie SQW et al.
The Journal of Biological Chemistry, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.
Long X et al.
Human Genomics, 2025
40410890 (PubMed )
Supplement: 40246_2025_762_MOESM3_ESM.xlsx › Supplementary__Table_2
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M et al.
Journal of Translational Medicine, 2019
Perrault syndrome type 3 caused by diverse molecular defects in CLPP.
Brodie EJ et al.
Scientific Reports, 2018
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
Dursun F et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE et al.
Frontiers in Neurology, 2016
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
Ahmed S et al.
Journal of the Neurological Sciences, 2015
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