Disease: Mitochondrial myopathy with lactic acidosis
- <em>VARS2</em> gene mutation leading to overall developmental delay in a child with epilepsy: A case report
- A - 190 Neuropsychological Profile of an Adolescent with Primary Mitochondrial Disorder
- A case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS
- A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
- A case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) complicated by chronic intestinal pseudo-obstruction
- A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt-ND variants
- A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report
- A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report
- A response to the letter about the article 'Clinical features of epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes'
- Acute myocardial infarction in a patient with MELAS syndrome: a possible link?
- Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge
- alpha rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene
- Altered Neurovascular Coupling in Patients With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A Combined Resting-State fMRI and Arterial Spin Labeling Study
- Apply the Hirano or Japanese criteria when diagnosing MELAS
- Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms?
- Bilateral cochlear implants in a MELAS patient
- Characteristics of stroke-like lesions on cerebral imaging
- Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants
- Clinical case of MELAS syndrom
- Clinical features of epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
- Clinical Reasoning: A 17-Year-Old Girl With Progressive Cognitive Impairment
- Clinical, imaging, and pathological characteristics of 35 cases of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome
- Comprehensive Diagnostic Criteria for MELAS Syndrome; a Case Study Involving an Elderly Patient With MT-TWm.5541C>T Mutation
- Cylindrical spirals and other concentric structures of skeletal muscle in patients with neurological diseases
- Data-independent acquisition-based quantitative proteomic analysis of m.3243A>G MELAS reveals novel potential pathogenesis and therapeutic targets
- Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report
- Development of a sensitive double TaqMan Probe-based qPCR Angle-Degree method to detect mutation frequencies
- Diabetes ketoacidosis and Recurrent Childhood Stroke-like Episodes
- Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B
- Diffuse posterior leukoencephalopathy in MELAS without stroke-like episodes: A case report
- Editorial for "Altered Neurovascular Coupling in Patients With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS): A Combined Resting-State fMRI and Arterial Spin Labeling Study"
- Effective treatment of choreaballism due to an <em>MT-CYB</em> variant with haloperidol, tetrabenazine, and antioxidants
- Generalized Muscular Hypermetabolism Caused by Mitochondrial Myopathy Shown on 18 F-FDG PET/CT
- Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance
- Glutamine metabolism in diseases associated with mitochondrial dysfunction
- Growth hormone therapy for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: A case report
- Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors
- High-dose oral glutamine can reduce cerebrospinal fluid glutamate in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes without a beneficial clinical or cerebral tissue effect
- High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
- Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia
- Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia
- Impediments to Heart Transplantation in Adults With MELAS<sup>MT-TL1:m.3243A>G</sup> Cardiomyopathy
- Improvement of Intestinal Pseudo-Obstruction by Total Parenteral Nutrition in a Young Woman With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Case Report
- Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome
- Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome
- Infraclavicular Catheter in MELAS Syndrome for Analgesic Purposes
- Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort
- Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
- Late-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and the role of serial imaging
- Leber's hereditary optic neuropathy like disease in <em>MT-ATP6</em> variant m.8969G>A
- Letter to the Editor regarding "Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes diagnosed after metformin-triggered stroke-like episodes"
- Long term follow-up in two siblings with Sengers syndrome: Case report
- Long-term ketogenic diet therapy improves mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): A case report
- Long-Term Safety of Systemic Ozone Therapy in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
- Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE
- Macrocytosis in Mitochondrial DNA Deletion Syndromes
- Melas Syndrome
- Melas Syndrome
- MELAS-Derived Neurons Functionally Improve by Mitochondrial Transfer from Highly Purified Mesenchymal Stem Cells (REC)
- MELAS: Phenotype Classification into Classic-versus-Atypical Presentations
- Mitochondrial dysfunction characterized in human induced pluripotent stem cell disease models in MELAS syndrome: A brief summary
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): Special MRI features
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome: a case report
- Mitochondrial encephalopathy with lactic-acidosis and stroke-like episodes syndrome presenting as progressive supranuclear palsy
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes diagnosed after metformin-triggered stroke-like episodes
- Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes
- Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile
- Mitochondrial tRNA pseudouridylation governs erythropoiesis
- Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
- Modeling Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome Using Patient-Derived Induced Neurons Generated by Direct Reprogramming
- Modeling of mitochondrial bioenergetics and autophagy impairment in MELAS-mutant iPSC-derived retinal pigment epithelial cells
- MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants
- Multimodal single-cell analysis of nonrandom heteroplasmy distribution in human retinal mitochondrial disease
- Multiomics analysis reveals serine catabolism as a potential therapeutic target for MELAS
- Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases
- Neuroimaging in mitochondrial disease
- Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation
- Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation
- Patent foramen ovale leading to mismanagement in a mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes patient
- Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
- Post-Transcriptional Methylation of Mitochondrial-tRNA Differentially Contributes to Mitochondrial Pathology
- Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13
- Prolonged misdiagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: A case report
- Pseudouridine synthase 1 regulates erythropoiesis via transfer RNAs pseudouridylation and cytoplasmic translation
- Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant
- Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant
- Reply: High-dose oral glutamine can reduce cerebrospinal fluid glutamate in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes without a beneficial clinical or cerebral tissue effect
- Research progress of RNA pseudouridine modification in nervous system
- Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases
- Reversible cerebral artery constriction accompanied with stroke-like episode in MELAS: A case series
- Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease
- Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
- Successful catheter ablation of a left posterolateral accessory bypass tract and periinterventional management in a patient with MELAS syndrome
- T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood
- The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study
- The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability
- The Possible Role of COVID-19 in the Triggering of Underlying Mitochondrial Dysfunction in MELAS Syndrome, A Brief Report of three cases
- Treatment of a patient with severe lactic acidosis and multiple organ failure due to mitochondrial myopathy: A case report
- Unraveling RNA Conformation Dynamics in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episode Syndrome with Solid-State Nanopores
- Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene