• A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome
• A MELAS syndrome family harboring two mutations in mitochondrial genome
• A missense mutation in the murine Opa3 gene models human Costeff syndrome
• A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness
• A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma
• A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract
• A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy
• A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance
• A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease
• A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease
• Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria
• Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome
• AGK regulates the progression to NASH by affecting mitochondria complex I function
• An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA
• An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
• Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report
• ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency
• Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism
• Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing
• Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8
• Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
• Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome
• Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report
• Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions
• Cellular Senescence and Aging in Myotonic Dystrophy
• Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
• Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
• Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
• Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
• Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
• Complex mitochondriopathy associated with 4 mtDNA transitions
• Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion
• Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
• Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome
• COXPD9 in an individual from Puerto Rico and literature review
• CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation
• CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation
• Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function
• DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7
• Dominant optic atrophy
• Eltrombopag Therapy in Children With Rare Disorders Associated With Thrombocytopenia
• Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through technique
• EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
• External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation
• Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
• Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
• General anaesthesia in a man with mitochondrial myopathy undergoing eye surgery
• Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome
• Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
• Kearns Sayre Syndrome--case report with review of literature
• Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome
• Lady in red: A case of Kearns-Sayre syndrome supported by histopathology
• Long term follow-up in two siblings with Sengers syndrome: Case report
• Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype
• Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
• Metals and neuroscience
• Mitochondrial complex I-linked disease
• Mitochondrial disorders with significant ophthalmic manifestations
• Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications
• Mitochondrial dysfunction caused by novel ATAD3A mutations
• Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy
• Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
• Mitochondriopathies
• Mouse models for mitochondrial disease
• Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene
• Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change
• Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy
• Myopathy in Marinesco-Sjogren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology
• Neuroradiologic findings in Sengers syndrome
• Ophthalmologic findings in patients with ataxia
• Other autosomal recessive and childhood ataxias
• Phenotypic spectrum of <em>SLC25A4</em> mutations
• Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant
• Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA^Lys (m.8340G&gt;A) gene variant
• POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria
• Ptosis Correction
• Ptosis Correction
• Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease
• Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy
• Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation
• Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts
• Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
• Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex
• Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report
• Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
• Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy
• Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a <em>TCF4</em> Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
• SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human
• SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder
• Small heat shock proteins: Role in cellular functions and pathology
• Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy
• Syndrome of mitochondrial myopathy of the heart and skeletal muscle, congenital cataract and lactic acidosis
• Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome
• The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease
• The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency
• The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis
• The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism
• Transmitochondrial mice: proof of principle and promises
• Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
• Vici syndrome: a review