Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.

CRISPR prime editing of mitochondrial heteroplasmy in rare Kearns-Sayre syndrome: ocular and cardiac synergies.

Mitochondrial tRNA-Derived Diseases.

Choroidal neovascularization in a teenager with Kearns Sayre syndrome.

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders.

Molecular Aspects of Mitochondrial Dysfunction in Diabetes, Pearson and Kearns-Sayre Syndromes, and Neurodegenerative Disorders.

Comprehensive basic and clinical studies are needed to improve the treatment and outcome of patients with Kearns-Sayre syndrome.

Recurrent Syncope and Drooping Eyes in a Young Woman: Kearns-Sayre Syndrome.

Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report.

Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review.

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes.

Noninvasive Assessments of Mitochondrial Capacity in People with Mitochondrial Myopathies.

Mitochondrial Disorder: Kearns-Sayre Syndrome.

Mitophagy modulation rescues single large-scale mitochondrial DNA deletion (SLSMD) disease symptoms in the C. elegans uaDf5 animal model.

Neuroimaging characteristics of single Large-Scale mitochondrial DNA deletion syndromes.

Diagnosing Kearns-Sayre syndrome requires documentation of the underlying genetic defect.

Expanding the Genetic and Phenotypic Spectrum of Kearns-Sayre Syndrome: A Case Report.

Kearns-Sayre syndrome presenting with fanconi syndrome: a case report.

Aflibercept for the treatment of pigmentary retinopathy in Kearns-Sayre syndrome?

Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.

DKA in a toddler negative to type 1 diabetes autoantibodies: unusual presentation of Kearn-Sayre syndrome.

Polyendocrinopathy and multisystem involvement are common phenotypic features of Kearns-Sayre syndrome.

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy.

Kearns-Sayre syndrome presenting with progressive external ophthalmoplegia and third-degree atrioventricular block diagnostic challenge in resource-limited settings: a case report.

Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).

Enamel hypoplasia: a potential diagnostic aid in DiGeorge syndrome.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Overview of neuroimaging in primary mitochondrial disorders.

Endocrine Dysfunction in Primary Mitochondrial Diseases.

[Kearns-Sayre Syndrome: A case report in Rabat University Hospital Center and literature review].

Syndromic retinitis pigmentosa.

Anti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.

LNC-ing Genetics in Mitochondrial Disease.

Mitochondrial disorders are associated with morphological neuromuscular junction defects.

Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review.

Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes.

New Insights into Mitochondria in Health and Diseases.

Primary mitochondrial diseases.

Syncope in Kearns-Sayre syndrome may not only be due to AV-block, but may also have other causes due to the multiorgan nature of the disease.

Kearns-Sayre Syndrome: a rare mitochondrial cytopathy complicated with complete heart block in a teenager.

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience.

Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy.

Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review.

Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion.

Diagnosing Kearns-Sayre syndrome requires clinical and genetic evidence.

[Clinical and genetic analysis of a patient with HUPRA syndrome due to missense variants of SARS2 gene and literature review].

Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia.

Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review.

Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms.

Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy.

Propofol and Kearns-Sayre Syndrome: An idiographic approach.

Adrenal involvement in mitochondrial DNA deletion disorders is highly dependent on comorbidities and pituitary function.

Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.

The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.

Mitochondrial Dysfunction in Kidney Tubulopathies.

A Tale of Two Maladies: Interplay of Mendelian Principles.

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.

Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.

Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation.

Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.

A Case Report of Kearns-Sayre Syndrome: Not an Absolute Contraindication for Radiotherapy.

Kearns-Sayre syndrome: Two case reports and a review for the primary care physician.

Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics.

Diagnosis of Kearns-Sayre syndrome requires genetic confirmation.

Ophthalmoplegia, pigmentary retinopathy, and abnormal cardiac conduction: A rare case of Kearns-Sayre syndrome.

Progressive external ophthalmoplegia.

KEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS.

Adrenal Dysfunction in Mitochondrial Diseases.

Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes.

Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases.

Mitochondrial disorders: Understanding mitochondrial DNA point mutations and deletion syndromes.

Prevention of sudden death in Kearns-Sayre syndrome requires prospective studies.

Stroke-like Episodes in Inherited Neurometabolic Disorders.

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.

Ventricular arrhythmias in Kearns-Sayre syndrome: A cohort study using the National Inpatient Sample database 2016-2019.

Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.

Kidney manifestations of mitochondrial disorders.

Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations.

Case Report: Kearns Sayre Syndrome Complicated With Postpartum Cardiac Failure.

Lady in red: A case of Kearns-Sayre syndrome supported by histopathology.

Potpourri of retinopathies in rare eye disease - A case series.

Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.

Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report.

High-grade idiopathic atrioventricular block in childhood: Case report and literature review.

Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad.

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.

Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.

Neuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report.

Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation.

Kearns-Sayre syndrome with a novel large-scale deletion: a case report.

Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.

Mitochondrial Retinopathies.

Kearns Sayre syndrome: a rare etiology of complete atrioventricular block in children (case report).

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases.

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.

Pediatric endothelial keratoplasty: a systematic review and individual participant data meta-analysis.

Growth Retardation in the Course of Fanconi Syndrome Caused by the 4977-bp Mitochondrial DNA Deletion: A Case Report.

Kearns-Sayre Syndrome With Persistent Ventricular Tachycardia Refractory to Shocks and Medications.

Anesthetic Management in Double-Trouble Kearns-Sayre Syndrome and Hereditary Neuropathy Is Feasible but Delicate.

Psychiatric Morbidities in Kearns Sayre Syndrome.

Ocular involvement in Kearns-Sayre syndrome.

Nutrition rehabilitation-related complications in primary mitochondrial disorders.

Mitochondrial Retinopathy.

Imaging Patterns Characterizing Mitochondrial Leukodystrophies.

A Patient With Kearns Sayre Syndrome and Charcot-Marie-Tooth for Supraventricular Tachycardia Ablation: A Case Report.

Involvement of the cardiac conduction system in Kearns-Sayre syndrome is progressive: Authors' reply.

Human induced pluripotent stem cell (hiPSC) line UOMi006-A derived from PBMCs of a patient with Kearns-Sayre syndrome.

The arrhythmic risk in Kearns-Sayre syndrome: still many questions unanswered-Authors' reply.

The arrhythmic risk in Kearns-Sayre syndrome: still many questions unanswered.

Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome.

Generation of human induced pluripotent stem cell (hiPSC) line UOMi005-A from PBMCs of a patient with Kearns-Sayre syndrome.

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.

Involvement of the cardiac conduction system in Kearns-Sayre syndrome is progressive.

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Nutritional issues in a diabetic patient with Kearns-Sayre syndrome.

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?

Bilateral Ptosis and Ophthalmoplegia in a Young Man.

Anesthetic management of Kearns-Sayre syndrome. Case report.

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.

Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.

Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.

Spinal cord and heart involvement in Kearns-Sayre syndrome: which link?

Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome.

Re: "Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome" by Guo et al.

Scleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns-Sayre Syndrome.

Retinoschisis associated with Kearns-Sayre syndrome.

Is the spinal cord truly affected in half of the patients with Kearns-Sayre syndrome?

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome.

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism.

Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.

A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories.

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.

Mitochondrial DNA mutations in renal disease: an overview.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.

Viability of diffusion tensor imaging for assessing retro-chiasmatic involvement in Kearns-Sayre syndrome remains elusive.

Mitochondrial disorders and the eye.

The Authors' Reply: The tRNA(Ile) Variant m.4309G>A May Not Cause Kearns-Sayre Syndrome.

Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study.

The tRNA(Ile) Variant m.4309G≥A May Not Cause Kearns-Sayre Syndrome.

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

[Mitochondrial DNA deletion syndrome: a case report and literature review].

Multiple symmetric lipomatosis: A clinical marker of mitochondrial cytopathy.

Heart Transplantation in Kearns-Sayre Syndrome.

Cardiac disease in Kearns-Sayre syndrome requires comprehensive management.

Exophthalmos in Kearns-Sayre syndrome.

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.

Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.

Muscle pain in mitochondrial diseases: a picture from the Italian network.

The necessity of implantable cardioverter defibrillators in patients with Kearns-Sayre syndrome - systematic review of the articles.

Teaching NeuroImages: Kearns-Sayre syndrome.

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants.

Ophthalmoplegia in Mitochondrial Disease.

Hypoparathyroidism in children: a study of eight cases.

Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.

CKD Due to a Novel Mitochondrial DNA Mutation: A Case Report.

Pigmentary retinopathy in Kearns-Sayre syndrome.

[Diagnostic and Therapeutic Approaches for Mitochondrial Diseases].

The Genetic Cause of Kearns-Sayre Syndrome Determines Counselling and Outcome of These Patients.

The heart in m.3243A>G carriers.

Combination of microdissection and single cell quantitative real-time PCR revealed intercellular mitochondrial DNA heterogeneities in fibroblasts of Kearns-Sayre syndrome patients.

Neuroimaging of Mitochondrial Cytopathies.

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Anti-replicative recombinant 5S rRNA molecules can modulate the mtDNA heteroplasmy in a glucose-dependent manner.

Kearns-Sayre syndrome is genetically and phenotypically heterogeneous.

Heart Block, Ptosis, and Diagnostic Funduscopic Examination: Problems of the Heart Seen Through the Eyes.

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.

Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?

Targeted versus untargeted omics - the CAFSA story.

Anesthetic management of a parturient with Kearns-Sayre syndrome, dual-chamber and VVI implantable defibrillator pacemaker/defibrillator, and preeclampsia for cesarean delivery: A case report and review of the literature.

Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report.

Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.

Kearns-Sayre syndrome in the absence of a mtDNA deletion?

Kearns Sayre Syndrome: Looking beyond A-V conduction.

Scleral contact lenses for the management of complicated ptosis.

An Intriguing Family with Type 2 Diabetes Mellitus and Complete Heart Block.

Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results.

Folinic acid is ineffective for treating kearns-sayre syndrome.