Disease: Mitochondrial diseases- clinically undefined
- Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
- Atypical periodic paralysis and myalgia: A novel <em>RYR1</em> phenotype
- Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: case study and effect of deep brain stimulation
- Cardiac involvement in mitochondrial disease: a clinical study of 38 patients
- Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype
- Cerebral folate deficiency: Analytical tests and differential diagnosis
- Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders
- Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships
- Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders
- Could Repeated Cardio-Renal Injury Trigger Late Cardiovascular Sequelae in Extreme Endurance Athletes?
- Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles
- Defective mitochondrial biogenesis: a hallmark of the high cardiovascular risk in the metabolic syndrome?
- Developmental enhancement of adenylate kinase-AMPK metabolic signaling axis supports stem cell cardiac differentiation
- Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy
- Diclofenac-induced liver injury: a paradigm of idiosyncratic drug toxicity
- Drp1 overexpression induces desmin disassembling and drives kinesin-1 activation promoting mitochondrial trafficking in skeletal muscle
- Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland
- Erxian Decoction-induced serum exosomes slowed bone marrow mesenchymal stem cell senescence through mitophagy
- Frataxin deficiency promotes endothelial senescence in pulmonary hypertension
- Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1
- Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing
- Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology
- HIV gp120 in the Lungs of Antiretroviral Therapy-treated Individuals Impairs Alveolar Macrophage Responses to Pneumococci
- Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus
- Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome
- Metabolic injury-induced NLRP3 inflammasome activation dampens phospholipid degradation
- Mitochondrial antigens and autoantibodies: from anti-M1 to anti-M9
- Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network
- Molecular and Cellular Bases of Immunosenescence, Inflammation, and Cardiovascular Complications Mimicking "Inflammaging" in Patients with Systemic Lupus Erythematosus
- Molecular components of vertebrate Mg2+-homeostasis regulation
- Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes
- Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease
- Neurological disorders of purine and pyrimidine metabolism
- Neurological mitochondrial cytopathies
- Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia
- Rag-GTPase-TFEB/TFE3 axis controls B cell mitochondrial fitness and humoral immunity independent of mTORC1
- Research Progress in Glucose Metabolism of Chondrocytes
- Risk Factors Analysis and Management of Cardiometabolic-Based Chronic Disease in Low- and Middle-Income Countries
- Role of cholangiocytes in primary biliary cirrhosis
- Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy
- Taurine deficiency as a driver of aging
- The mitochondrial protein hFis1 regulates mitochondrial fission in mammalian cells through an interaction with the dynamin-like protein DLP1
- The nutrient-sensing Rag-GTPase complex in B cells controls humoral immunity via TFEB/TFE3-dependent mitochondrial fitness
- The p13II protein of HTLV type 1: comparison with mitochondrial proteins coded by other human viruses