Results 41 to 50 of about 6,956 (184)
Radiology Case Reports, 2021 : Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common maternally inherited mitochondrial disorders, with no specific treatment available.
T.M. Trang, MD +5 more
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Brazilian Journal of Anesthesiology, 2021 Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal-recessive disorder which is due to mutations in TYMP. The case reported here is of an 18-year-old male with MNGIE syndrome who presented for two different operations on two
Tayfun Sugur +4 more
doaj +1 more source
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
Acta Ophthalmologica, EarlyView.Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram +11 more
wiley +1 more source
Diagnostic and Interventional Radiology, 2013 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy.
Gökçen Çoban +5 more
doaj +1 more source
Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions
Brain Pathology, EarlyView.An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich +5 more
wiley +1 more source
Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report
Clinical Genetics, EarlyView.This report detailed the clinical findings and the biochemical phenotype of a 3‐year‐old girl with ReNU syndrome. Circulating biomarkers and a muscle biopsy s uggested mild mitochondrial abnormalities. Severe plasmalogen deficiency was also observed, comparable to defects of peroxisomal plasmalogen biosynthesis.
Irene De Biase +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2784-2789, December 2026.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source
Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno +3 more
wiley +1 more source