Associated Papers
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
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.
Key J et al.
Cells, 2021
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
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA et al.
Clinical Genetics, 2017
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE et al.
Frontiers in Neurology, 2016
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