Perrault Syndrome Unmasked: Genomic Reclassification of a Fabry-Like CKDx Phenotype.

Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.

Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.

The human induced pluripotent stem cell line CTGUi-002A was generated from a Perrault syndrome patient.

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.

TWNK gene pathogenic variant and Perrault syndrome.

CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.

LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

Endocrine Dysfunction in Primary Mitochondrial Diseases.

Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.

Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Perrault syndrome: a forgotten presentation for infertile women.

RMND1 and PLN variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient.

The Perrault Syndrome Mystery: A Case Report on Its Diagnosis in a 26-Year-Old Female.

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.

Knockout Mouse Studies Show That Mitochondrial CLPP Peptidase and CLPX Unfoldase Act in Matrix Condensates near IMM, as Fast Stress Response in Protein Assemblies for Transcript Processing, Translation, and Heme Production.

A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.

A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families.

Perrault syndrome: The Way Forward After Genetic Counselling?

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

CLPP-Null Eukaryotes with Excess Heme Biosynthesis Show Reduced L-arginine Levels, Probably via CLPX-Mediated OAT Activation.

Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome.

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.

[Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes].

Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling.

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.

GTPase Era at the heart of ribosome assembly.

The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications.

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey.

CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2.

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.

The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes.

Primary ovarian insufficiency in RMND1 mitochondrial disease.

A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.

Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.

Movement Disorders Associated with Hypogonadism.

Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.

Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse.

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Loss of Mitochondrial Protease CLPP Activates Type I IFN Responses through the Mitochondrial DNA-cGAS-STING Signaling Axis.

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.

Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.

Perrault syndrome: Clinical report and retrospective analysis.

[Analysis of TWNK variant in a family affected with Perrault syndrome].

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

LARS2-Perrault syndrome: a new case report and literature review.

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease.

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

Broadening the phenotype of the TWNK gene associated Perrault syndrome.

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.

Global Proteome of LonP1+/- Mouse Embryonal Fibroblasts Reveals Impact on Respiratory Chain, but No Interdependence between Eral1 and Mitoribosomes.

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Comprehensive analysis of syndromic hearing loss patients in Japan.

Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea.

Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc.

[Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features].

Perrault syndrome type 3 caused by diverse molecular defects in CLPP.

Mitochondrial adaptation in obesity is a ClpPicated business.

The Role of ClpP Protease in Bacterial Pathogenesis and Human Diseases.

Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.

Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

Unresolved questions regarding human hereditary deafness.

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.

Expanding the genotypic spectrum of Perrault syndrome.

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Barrel-shaped ClpP Proteases Display Attenuated Cleavage Specificities.

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

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.

Perrault syndrome - a rare case report.

Spectrum of combined respiratory chain defects.

Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder.