Disease: Leigh syndrome
- <em>DNAJC30</em> Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients
- <em>SDHA</em> Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven
- "Reply to the Letter to the Editor regarding "Adult-onset Leigh's syndrome: a rare cause of young-onset parkinsonism with dystonia" by Saluja et al."
- A case of Leigh syndrome presented with paroxysmal body swing
- A core genome multi-locus sequence typing scheme for <em>Streptococcus uberis</em>: an evolution in typing a genetically diverse pathogen
- A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project
- A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project
- A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
- A model-based approach to estimating the prevalence of disease combinations in South Africa
- A Novel Heterozygous <em>De Novo MORC2</em> Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
- A novel homozygous splice donor variant in the <em>LRPPRC</em> gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report
- A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report
- 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 Pair of Compound Heterozygous <em>IARS2</em> Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient
- A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient
- Adult-onset Leigh's syndrome: a rare cause of young-onset parkinsonism with dystonia
- Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
- Angiodysplasia of the appendix: a diagnostic challenge and the importance of colonoscopy
- 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
- Before Leigh syndrome can be attributed to m.1608G≥a in MT-TV, its pathogenicity must be confirmed
- Before Leigh syndrome can be attributed to m.1608GA in MT-TV, its pathogenicity must be confirmed
- Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
- Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
- Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review
- 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
- Bioelectrical impedance analysis as a clinical marker of health status in adult patients with benign gastrointestinal disease: A systematic review
- Case 321: Leigh Syndrome
- Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
- Characteristics and outcomes of neonates hospitalised with SARS-CoV-2 infection in the UK by variant: a prospective national cohort study
- ChemRAP uncovers specific mRNA translation regulation via RNA 5' phospho-methylation
- Childhood-Onset Generalized Dystonia Due to NDUFA9 Gene Mutation: An Expansion of Mutations Causing Leigh's Syndrome
- Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <em>HK1</em> Variants
- Co-enrichment of cancer-associated bacterial taxa is correlated with immune cell infiltrates in esophageal tumor tissue
- Complex Heart-Lung Ventilator Emergencies in the CICU
- Contrasting functions of ATP hydrolysis by MDA5 and LGP2 in viral RNA sensing
- Cost of Exempting Sole Orphan Drugs From Medicare Negotiation
- Cryo-electron tomography of NLRP3-activated ASC complexes reveals organelle co-localization
- Decoding negative genetic panels in primary ciliary dyskinesia
- Determination of optimal vibration dose to treat Parkinson's disease gait symptoms: A clinical trial
- Development of a Reliable and Valid Survey Instrument to Measure Nurses' Health Behaviors Towards an Infectious Disease
- Diagnosing Leigh syndrome requires typical lesions on cerebral MRI
- Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
- Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle
- Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
- DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients
- Engineering TALE-linked deaminases to facilitate precision adenine base editing in mitochondrial DNA
- Evaluation of cerebrospinal fluid alpha-synuclein seed amplification assay in PSP and CBS
- Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
- Expert consensus on the diagnosis and treatment of Leigh syndrome (2023)
- Frequency and outcomes of gastrostomy insertion in a longitudinal cohort study of atypical parkinsonism
- 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 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
- Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene
- Immunogenicity and Vaccine Shedding After 1 or 2 Doses of rVSVΔG-ZEBOV-GP Ebola Vaccine (ERVEBO®): Results From a Phase 2, Randomized, Placebo-controlled Trial in Children and Adults
- 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
- Implementing focused echocardiography and AI-supported analysis in a population-based survey in Lesotho: implications for community-based cardiovascular disease care models
- Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia
- 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
- Interleukin-6-elicited chronic neuroinflammation may decrease survival but is not sufficient to drive disease progression in a mouse model of Leigh syndrome
- Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease
- Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
- Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene
- Length of stay and economic sustainability of virtual ward care in a medium-sized hospital of the UK: a retrospective longitudinal study
- Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
- Mitochondrial Dysfunction in Kidney Tubulopathies
- 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
- Ndufs4 KO mice: A model to study comorbid mood disorders associated with mitochondrial dysfunction
- 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
- Novel <em>COX11</em> Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and <em>Saccharomyces cerevisiae</em>
- Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review
- PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology
- Programme science: a route to effective coverage and population-level impact for HIV and sexually transmitted infection prevention
- Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications
- Response to: 'Adult-onset Leigh's syndrome: a rare cause of young-onset parkinsonism with dystonia' by Saluja et al
- Risk of Pancreatic Cancer After Acute Pancreatitis: A Retrospective Analysis of the Korean National Sample Cohort
- Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
- Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure
- Secondary (additional) findings from the 100,000 Genomes Project: disease manifestation, healthcare outcomes and costs of disclosure
- Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
- Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia
- Spontaneous Perforation of Meckel's Diverticulum in a Young Adult Male: A Case Report and Review of the Literature
- Stress Pathways Induced by Volatile Anesthetics and Failure of Preconditioning in a Mitochondrial Complex I Mutant
- Structural insights into respiratory complex I deficiency and assembly from the mitochondrial disease-related ndufs4(-/-) mouse
- Structural insights into respiratory complex I deficiency and assembly from the mitochondrial disease-related ndufs4<sup>-/-</sup> mouse
- Sulfide catabolism in hibernation and neuroprotection
- Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
- 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
- Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
- Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene
- Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality