Results 81 to 90 of about 8,951 (213)
Mitochondrial encephalomyopathy: six cases report and review of literature
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 The clinical characteristics, imaging examinations and muscle biopsies in 6 cases with mitochondrial encephalomyopathy were retrospectively analyzed.
Yuan GUO, Jun TUO, Bo WU
doaj
Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To study histological features, immunophenotype, genotype, diagnosis and differential diagnosis, treatment and prognosis of one case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS), and to summarize the ...
Xiao-ling YAN +4 more
doaj +1 more source
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]
, 2015 Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E +13 more
core +2 more sources
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT SMART syndrome is a rare, delayed complication of cranial irradiation that can mimic stroke, tumor recurrence, or autoimmune encephalitis. Early recognition based on clinical‐radiologic features is critical to avoid misdiagnosis and unnecessary interventions since conservative management often leads to complete recovery.
Shiv Jha +4 more
wiley +1 more source
Mitochondrial disease in adults: what's old and what's new?
EMBO Molecular Medicine, 2015 Ten years ago, there was an emerging view that the molecular basis for adult mitochondrial disorders was largely known and that the clinical phenotypes had been well described. Nothing could have been further from the truth.
Patrick F Chinnery
doaj +1 more source
Diabetes, Obesity and Metabolism, Volume 28, Issue 2, Page 826-839, February 2026.Abstract Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder usually caused by the variant m.3243A>G in the MT‐TL1 gene. We have proposed that diabetes in MIDD arises from a combination of insulin resistance and impaired β‐cell function that is more likely to occur in the presence of high skeletal muscle heteroplasmy and ...
Ahsen Chaudhry +2 more
wiley +1 more source
Oxidative Stress and Mitochondrial Injury in Chronic Multisymptom Conditions: From Gulf War Illness to Autism Spectrum Disorder [PDF]
, 2012 Background: Overlapping chronic multisymptom illnesses (CMI) include Chronic Fatigue Syndrome (CFS), fibromyalgia, irritable bowel syndrome, multiple chemical sensitivity, and Gulf War illness (GWI), and subsets of autism spectrum disorder (ASD).
Beatrice A. Golomb
core +1 more source
Advanced Science, Volume 13, Issue 1, 5 January 2026.A CRISPR‐free mitochondrial RNA m1A demethylation (MRD) editor combining MTS, PUF proteins, and ALKBH3 enables precise m1A removal from mitochondrial mRNA and tRNA, which influences mitochondrial protein levels, cellular proliferation, ATP production, and mitochondrial respiration. Subsequently, in vivo demethylation of the m1A modification is achieved
Xiangrui Li +13 more
wiley +1 more source
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease [PDF]
, 2016 INTRODUCTION: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features.
Bhattacharya, K +13 more
core +1 more source
Case Reports in Cardiology, 2017 We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-I123-iodophenyl-pentadecanoic myocardial scintigraphy, and ...
Toshiki Kuno +8 more
doaj +1 more source