Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]
, 2013 Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis +45 more
core +3 more sources
Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome
Frontiers in Cell and Developmental Biology, 2021 In this study, we aimed to establish the mitochondrial etiology of the proband’s progressive neurodegenerative disease suggestive of an atypical Leigh syndrome, by determining the proband’s pathogenic variants.
Martine Uittenbogaard +7 more
doaj +1 more source
Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
Endocrine Regulations, 2018 Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings ...
Danis Daniel +7 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
Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency. [PDF]
, 2014 Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant.
Scheffler, Immo E
core +1 more source
Potentially Diagnostic Electron Paramagnetic Resonance Spectra Elucidate the Underlying Mechanism of Mitochondrial Dysfunction in the Deoxyguanosine Kinase Deficient Rat Model of a Genetic Mitochondrial DNA Depletion Syndrome [PDF]
, 2016 A novel rat model for a well-characterized human mitochondrial disease, mitochondrial DNA depletion syndrome with associated deoxyguanosine kinase (DGUOK) deficiency, is described.
Bennett, Brian +8 more
core +2 more sources
Anesthetic considerations in Leigh disease: Case report and literature review
Saudi Journal of Anaesthesia, 2012 Leigh disease is an extremely rare disorder, characterized by a progressive neurodegenerative course, with subacute necrotizing encephalomyelopathy. It usually presents in infancy with developmental delay, seizures, dysarthria, and ataxia. These patients
Abdullah Sulieman Terkawi +3 more
doaj +1 more source
Corrigendum: an overview of MicroRNAs as biomarkers of ALS [PDF]
, 2019 A Corrigendum on An Overview of MicroRNAs as Biomarkers of ALS by Joilin, G., Leigh, P. N., Newbury, S. F., and Hafezparast, M. (2019). Front. Neurol. 10:186.
Hafezparast, Majid +3 more
core +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
A multicenter study on Leigh syndrome: Disease course and predictors of survival [PDF]
, 2014 Background: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation.
Angst, I.B. (Isabel) de +14 more
core +1 more source