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
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases [PDF]
, 2019 TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders.
Bugiardini, E +11 more
core +2 more sources
Ocular manifestations in Leigh syndrome [PDF]
Korean Journal of Pediatrics, 2010 Purpose : Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods :
Kyo Ryung Kim +5 more
doaj +1 more source
Challenges and solutions for autism in academic geosciences [PDF]
, 2020 Researcher diversity promotes research excellence. But academia is widely perceived as inaccessible to those who work in non-stereotypical ways, and disabled researchers are consequently chronically under-represented within higher education. The barriers
Johnson, Jessica H., Taylor, Nicola C.
core +1 more source
Leigh syndrome with atypical cerebellar lesions
eNeurologicalSci, 2019 Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis.
Marcos Gil Alberto da Veiga +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
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
A Novel Mitochondrial DNA 8597T>C Mutation of Leigh Syndrome: Report of One Case
Pediatrics and Neonatology, 2012 Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system.
Jeng-Dau Tsai +3 more
doaj +1 more source
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]
, 2014 Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
A Achilli +28 more
core +3 more sources
Acute military psychiatric casualties from the war in Iraq [PDF]
, 2005 Background: The view that most military personnel evacuated from war zones are suffering from combat stress reactions, or are otherwise traumatised by the horrors of war, has an impact on all aspects of military psychiatry.
Andrew G. McKechanie +10 more
core +1 more source