Results 111 to 120 of about 2,461,819 (231)
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss +10 more
wiley +1 more source
Exploring mTOR inhibition as treatment for mitochondrial disease
Annals of Clinical and Translational Neurology, 2019 Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment.
Abigail Sage‐Schwaede +6 more
doaj +1 more source
Neurodivergent Patients in Forensic Mental Health Wards: Practice Pointers From a Scoping Study
Kōtuitui: New Zealand Journal of Social Sciences Online, Volume 21, Issue 1, March 2026.This scoping study aims to identify patient‐centered care recommendations for neurodivergent forensic mental health in‐patients. The offending neurodivergent population is currently understudied and over‐represented in forensic mental health services. This is causing individuals to receive inadequate care and increasing staff harm.
Beth Foster, Anita Gibbs
wiley +1 more source
Pathology of mitochondria in MELAS syndrome: an ultrastructural study
Polish Journal of Pathology, 2017 Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented.
Paulina Felczak +8 more
doaj +1 more source
Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study [PDF]
, 2018 One of the most common mitochondrial DNA (mtDNA) mutations, the A to G transition at base pair 3243, has been linked to changes in the brain, in addition to commonly observed hearing problems, diabetes and myopathy.
Coo, I.F.M. (René) de +8 more
core +4 more sources
Arquivos de Neuro-Psiquiatria, 2007 PURPOSE: It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like ...
Adriana Bastos Conforto +6 more
doaj +1 more source
Neuroprotective effects of carnitinoid compounds in rodent cellular and in vivo models of mitochondrial complex I dysfunction [PDF]
, 2019 Rotenone-mediated mitochondrial complex I inhibition was used to model Parkinson’s disease-like syndrome in Lewis rats. Tyrosine hydroxylase immunolabeling demonstrated a decrease in the number of dopaminergic neurons as well as aberrant morphology in ...
Steliou, Kosta
core
Mitochondrial Cardiomyopathies [PDF]
, 2016 Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control.
Ayman W. El-Hattab, Fernando Scaglia
core +2 more sources
MELAS or Leigh syndrome, that’s the question
Pediatric Endocrinology Diabetes and Metabolism, 2021 With interest we read the article by Baszyńska-Wilk et al. about a 12 years old female who was diagnosed with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome upon the clinical presentation, blood tests, and the cerebral magnetic resonance imaging (MRI) [1].
openaire +2 more sources
Nitric Oxide in Skeletal Muscle: Role on Mitochondrial Biogenesis and Function [PDF]
, 2012 Nitric oxide (NO) has been implicated in several cellular processes as a signaling molecule and also as a source of reactive nitrogen species (RNS). NO is produced by three isoenzymes called nitric oxide synthases (NOS), all present in skeletal muscle ...
Godinho, Rosely Oliveira +2 more
core +2 more sources