Results 41 to 50 of about 6,089,967 (287)

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, Kuntal Sen, Matthew Whitehead, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Andrea Gropman, Anne Chiaramello   +7 more
doaj   +1 more source

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Frontiers in Neurology, 2019
Background: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system.
Sunho Lee, Ji-Hoon Na, Young-Mock Lee, Young-Mock Lee   +3 more
doaj   +1 more source

Leigh Syndrome Mimicking Wernicke’s Encephalopathy: A Case Report

대한영상의학회지, 2020
Leigh syndrome or subacute necrotizing encephalomyelopathy is a rare, rapidly progressive neurodegenerative disorder. In general, symptoms such as shortness of breath and decreased cardiac function usually occur within 1 year of life.
Jisoo Oh, Jinok Choi, Soojung Kim, Eun-ae Yoo   +3 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, Bindoff, L.A. (Laurence Albert), Coo, I.F.M. (René) de, Darin, N. (Niklas), Isohanni, M.K. (Matti), Lönnqvist, T. (Tuula), Mankinen, K. (Katariina), Meirleir, L. (Linda) de, Naess, K. (Karin), Ostergaard, M., Pihko, H. (Helena), Sofou, K. (Kalliopi), Tulinius, M. (Már), Tzoulis, C. (Charalampos), Uusimaa, J. (Johanna)   +14 more
core   +1 more source

Metabolic rescue ameliorates mitochondrial encephalo‐cardiomyopathy in murine and human iPSC models of Leigh syndrome

bioRxiv, 2022
Mice with deletion of complex I subunit Ndufs4 develop mitochondrial encephalomyopathy resembling Leigh syndrome (LS). We report that LS mice also develop severe cardiac bradyarrhythmia and diastolic dysfunction.
Jin-Young Yoon, Nastaran Daneshgar, Y. Chu, Biyi Chen, M. Hefti, K. Irani, Long-sheng Song, C. Brenner, E. Abel, B. London, Dao-Fu Dai   +10 more
semanticscholar   +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, A Gómez-Durán, A Maresca, Anna Olivieri, Antonia Parmeggiani, Antonio Torroni, AS Lebre, B Funalot, C Giordano, C La Morgia, Carlotta Stipa, Caterina Tonon, Chiara La Morgia, Cristina Scaduto, Daniela Brunetto, F Ji, Francesca Gandini, Francesco Toni, J Yang, JY Kim, L Caporali, Leonardo Caporali, Raffaele Lodi, RM Andrews, SL Cui, Stefania Nassetti, V Carelli, V Carelli, Valerio Carelli   +28 more
core   +3 more sources

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

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, Suk Ho Byeon, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim   +5 more
doaj   +1 more source

Microglial response promotes neurodegeneration in the Ndufs4 KO mouse model of Leigh syndrome

Glia, 2022
Leigh syndrome is a mitochondrial disease characterized by neurodegeneration, neuroinflammation, and early death. Mice lacking NDUFS4, a mitochondrial complex I subunit (Ndufs4 KO mice), have been established as a good animal model for studying human ...
K. Aguilar, Gemma Comes, C. Canal, Albert Quintana, E. Sanz, J. Hidalgo   +5 more
semanticscholar   +1 more source

Leigh has no Brakes: Impaired Inhibition in a Mouse Model of Leigh Syndrome Leads to Enhanced Seizure Sensitivity. [PDF]

Epilepsy Curr
Buchanan GF.
europepmc   +3 more sources