• "Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency
• A Case Report of Sinonasal Primary Squamous Cell Carcinoma
• A core genome multi-locus sequence typing scheme for <em>Streptococcus uberis</em>: an evolution in typing a genetically diverse pathogen
• A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature
• A Method for Producing Induced Pluripotent Stem Cell-Derived Cardiomyocytes from Leigh Syndrome Patients for Its Application in Disease Modeling and Drug Validation
• A model-based approach to estimating the prevalence of disease combinations in South Africa
• A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency
• A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts
• Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
• An electrophysiological correlate of sleep in a shark
• Assessing the impact of a cleaning programme on environmental hygiene in labour and neonatal wards: an exploratory study in The Gambia
• Auditory Brainstem Response in a Child with Mitochondrial Disorder-Leigh Syndrome
• Bacterial muropeptides promote OXPHOS and suppress mitochondrial stress in mammals
• Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
• Biallelic variants in Plexin B2 (<em>PLXNB2</em>) cause amelogenesis imperfecta, hearing loss and intellectual disability
• Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome
• Blonde hair, blue eyes
• Burden of disease scenarios for 204 countries and territories, 2022-2050: a forecasting analysis for the Global Burden of Disease Study 2021
• Cerebral Small Vessel Disease and Infarct Growth in Acute Ischemic Stroke Treated with Intravenous Thrombolysis
• Cerebral visual impairment: genetic diagnoses and phenotypic associations
• Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <em>HK1</em> Variants
• Complex Heart-Lung Ventilator Emergencies in the CICU
• Continuous infusion versus bolus injection of loop diuretics for acute heart failure
• Contrasting functions of ATP hydrolysis by MDA5 and LGP2 in viral RNA sensing
• Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome
• De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
• Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study
• Determination of optimal vibration dose to treat Parkinson's disease gait symptoms: A clinical trial
• Development and validation of a novel Barrett's oesophagus patient reported outcome measure (B-PROM)
• Development of a Reliable and Valid Survey Instrument to Measure Nurses' Health Behaviors Towards an Infectious Disease
• Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
• Distinct Imaging Markers of Leigh's Disease Linked to SURF1 Mutation: A Pediatric Case Study
• Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
• dldhcri3 zebrafish exhibited altered mitochondrial ultrastructure, morphology and dysfunction partially rescued by probucol or thiamine
• Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome
• Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience
• Evaluating the efficacy of vatiquinone in preclinical models of mitochondrial disease
• Evaluation of cerebrospinal fluid alpha-synuclein seed amplification assay in PSP and CBS
• Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism
• First Report of <em>Agroathelia rolfsii</em> Causing Southern Blight on Lippia (<em>Phyla canescens</em>) in Guangzhou, China
• Frequency and outcomes of gastrostomy insertion in a longitudinal cohort study of atypical parkinsonism
• Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
• Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene
• Genetic comparison of the Mycoplasma gallisepticum 6/85 vaccine strain and 6/85-like field isolates
• Global age-sex-specific mortality, life expectancy, and population estimates in 204 countries and territories and 811 subnational locations, 1950-2021, and the impact of the COVID-19 pandemic: a comprehensive demographic analysis for the Global Burden of
• Global burden and strength of evidence for 88 risk factors in 204 countries and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021
• Global burden of 288 causes of death and life expectancy decomposition in 204 countries and territories and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021
• Human Factors Contributing to Infection Prevention in Outpatient Hemodialysis Centers: A Mixed Methods Study
• Human induced pluripotent stem cells (hiPSCs) derived cells reflect tissue specificity found in patients with Leigh syndrome French Canadian variant (LSFC)
• Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3
• IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency
• Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene
• Impact of Asthma Medications During Pregnancy on Asthma Exacerbation, Maternal, and Neonatal Outcomes
• Impact of dietary ketosis on volatile anesthesia toxicity in a model of Leigh syndrome
• Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia
• Inducible gene expression of IκB-kinase ε (IKKε) is dependent on nuclear factor-κB (NF-κB) in human pulmonary epithelial cells
• Inducible gene expression of IκB-kinase ε is dependent on nuclear factor-κB in human pulmonary epithelial cells
• Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series
• Influences of race, ethnicity, and other social factors on coronavirus disease 2019 vaccination uptake among patients undergoing in vitro fertilization
• Interferon-gamma contributes to disease progression in the Ndufs4(-/-) model of Leigh syndrome
• Isolation of Mitochondria for Mitochondrial Supercomplex Analysis from Small Tissue and Cell Culture Samples
• Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
• Late-Onset Leigh Syndrome With Protracted Gastrointestinal Manifestations: A Rare Case Report
• Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature
• Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene
• Localized Merkel cell carcinoma treatment considerations: a response to the forty-year experience at the Peter MacCallum cancer centre
• Machine learning for predicting cognitive deficits using auditory and demographic factors
• Magnetic Resonance Imaging Measures to Track Atrophy Progression in Progressive Supranuclear Palsy in Clinical Trials
• Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
• Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations
• Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity
• NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model
• NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review
• New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to <em>VPS13D</em> Variants
• Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review
• Oral misoprostol alone, compared with oral misoprostol followed by oxytocin, in women induced for hypertension of pregnancy: A multicentre randomised trial
• Pharmacometabolomics applied to low-dose interleukin-2 treatment in amyotrophic lateral sclerosis
• Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome
• Pre-COVID life expectancy, mortality, and burden of diseases for adults 70 years and older in Australia: a systematic analysis for the Global Burden of Disease 2019 Study
• Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca²⁺]_i distribution in human iPSC-derived cardiomyocytes
• Preventing Pilonidal Sinus Recurrence With Laser Hair Epilation: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
• Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2
• Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation
• Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications
• Recurrent erythema multiforme in the setting of COVID-19 infection and oral candidiasis: A case for dysregulation of the T helper 17/interleukin 17 axis
• Response to: Is pancreatitis actually a phenotypic manifestation of Leigh syndrome?
• Role of Anti-Inflammatory Diet and Fecal Microbiota Transplant in Psoriatic Arthritis
• Spontaneous Perforation of Meckel's Diverticulum in a Young Adult Male: A Case Report and Review of the Literature
• Structural robustness of the NADH binding site in NADH:ubiquinone oxidoreductase (complex I)
• Sulfide catabolism in hibernation and neuroprotection
• Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome
• The Blood-Brain Barrier Is Unaffected in the Ndufs4(-/-) Mouse Model of Leigh Syndrome
• The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study
• The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches
• The role of the Pin1-<em>cis</em> P-tau axis in the development and treatment of vascular contribution to cognitive impairment and dementia and preeclampsia
• The vaccinia chondroitin sulfate binding protein drives host membrane curvature to facilitate fusion
• Tissue-Free Liquid Biopsies Combining Genomic and Methylation Signals for Minimal Residual Disease Detection in Patients with Early Colorectal Cancer from the UK TRACC Part B Study
• Urgent considerations for booster vaccination strategies against Ebola virus disease
• What Is the Accuracy of Clinical Staging for Stage III-Single-station N2 NSCLC? A Multi-Centre UK Study
• α-Glucosidase, butyrylcholinesterase and acetylcholinesterase inhibitory activities of phenolic compounds from <em>Carthamus tinctorius</em> L. flowers: <em>In silico</em> and <em>in vitro</em> studies