• A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome
• A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
• A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
• A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects
• A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
• A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
• A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
• A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
• An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
• An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
• Analysis of TWNK variant in a family affected with Perrault syndrome
• Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms
• Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation
• Broadening the phenotype of the TWNK gene associated Perrault syndrome
• Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient
• Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features
• Clinical approach to inherited peroxisomal disorders
• Clinical biochemistry of peroxisomal disorders
• CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2
• Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases
• Developmental profiles of polyunsaturated fatty acids in the brain of normal infants and patients with peroxisomal diseases: severe deficiency of docosahexaenoic acid in Zellweger's and pseudo-Zellweger's syndromes
• 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
• Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the <em>HARS2</em> gene
• 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
• First-ever genetic link for Perrault syndrome established
• Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree
• 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)
• Genotype and phenotype heterogeneity in perrault syndrome
• Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: cytochemical and morphometric data
• Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
• LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
• LARS2-Perrault syndrome: a new case report and literature review
• Liver pathologies due to peroxisome disorders
• Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review
• Marfanoid habitus is a nonspecific feature of Perrault syndrome
• Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
• Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome
• Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
• Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
• Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome
• New approaches in peroxisomal disorders
• New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
• Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome
• Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome
• On the molecular basis of D-bifunctional protein deficiency type III
• Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders
• Peroxisomal disorders in children: immunohistochemistry and neuropathology
• Peroxisomal disorders in neurology
• Peroxisomal hereditary diseases
• Peroxisomes and neurologic diseases
• Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
• Perrault syndrome type 3 caused by diverse molecular defects in CLPP
• Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc
• Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder
• Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
• Perrault syndrome: Clinical report and retrospective analysis
• Perrault syndrome: further evidence for genetic heterogeneity
• Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders
• Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities
• Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome
• Severe deficiency of docosahexaenoic acid in peroxisomal disorders: a defect of delta 4 desaturation?
• Severe manifestation of Leber's hereditary optic neuropathy due to 11778G&gt;A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome
• The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy
• Two Novel Pathogenic Variants Confirm <em>RMND1</em> Causative Role in Perrault Syndrome with Renal Involvement
• Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings
• Unresolved questions regarding human hereditary deafness
• XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription