Results 31 to 40 of about 15,339 (211)

NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature

Frontiers in Pediatrics, 2022
Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems.
Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang
doaj   +1 more source

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families [PDF]

, 2010
Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome.
Mazhor Al-Dosary, Worgan, L, Jones, S, Robert W. Taylor, Lisa Worgan, Saretzki, G, Mansour, S, Sahar Mansour, Michael Clarke, David R. Thorburn, Robert McFarland, Thorburn, DR, Vanessa E. Hogan, Emma L. Blakely, Al-Dosary, M, Simon Jones, Hogan, VE, Devlin, AM, Langping He, Tuppen, HAL, Gabriele Saretzki, Alston, CL, Blakely, EL, Morris, AA, Charlotte L. Alston, Taylor, RW, Tuppen, HA, Chrzanowska-Lightowlers, ZMA, Zofia M. A. Chrzanowska-Lightowlers, Andrew A. Morris, Chrzanowska-Lightowlers, ZM, Clarke, M, Anita M. Devlin, Helen A. L. Tuppen, He, L, McFarland, R   +35 more
core   +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

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

Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes [PDF]

, 2022
Leigh syndrome is a rare inherited, complex, neurometabolic disorder with genetic and clinical heterogeneity. Features present in affected patients range from classical stepwise developmental regression to ataxia, seizures, tremor, and occasionally ...
Rahman, Shamima, Wahedi, Azizia, Skene, Nathan, Soondram, Chandika, Murphy, Alan E   +4 more
core  

Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome

, 2023
Background: Mitochondrial DNA (mtDNA)-associated Leigh syndrome is influenced by mutant pathogenicity and corresponding heteroplasmic loads; however, the manner in which heteroplasmic mutant load affects patient phenotypes and the relationship between ...
나지훈, 이영목
core   +1 more source

Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention [PDF]

, 2021
Mitochondria are small cellular constituents that generate cellular energy (ATP) by oxidative phosphorylation (OXPHOS). Dysfunction of these organelles is linked to a heterogeneous group of multisystemic disorders, including diabetes, cancer, ageing ...
Adjobo-Hermans, Merel J. W., Wieckowski, Mariusz R., Wal, M.A.E. van de, Koopman, Werner J. H., Keijer, J., Adjobo-Hermans, M.J.W., Grefte, S., Quintana Romero, Albert, Keijer, Jaap, Quintana, Albert, Homberg, J.R., Koopman, Werner J.H., Schirris, Tom, Schothorst, E.M. van, Grefte, Sander, Schirris, Tom J. J., van de Wal, Melissa A. E., Adjobo-Hermans, Merel, Wieckowski, M.R., Homberg, Judith, van Schothorst, Evert M., Van De Wal, Melissa, van Karnebeek, Clara, Schirris, T.J.J., Koopman, W.J.H., Homberg, Judith R., Karnebeek, C.D. van   +26 more
core   +1 more source

Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome

Clinical Hypertension, 2023
Background Leigh syndrome is a progressive neurodegenerative mitochondrial disorder caused by multiple genetic etiologies with multisystemic involvement that mostly affecting the central nervous system with high rate of premature mortality.
Ana Solis, Joshua Shimony, Marwan Shinawi, Kevin T. Barton   +3 more
doaj   +1 more source

Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice [PDF]

PeerJ, 2017
Background The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans.
Mei Wang, Ya-Ping Huang, Han Wu, Ke Song, Cong Wan, A-Ni Chi, Ya-Mei Xiao, Xiao-Yang Zhao   +7 more
doaj   +2 more sources

Ophthalmologic involvement in Leigh syndrome [PDF]

Acta Ophthalmologica, 2016
no ...
Marita, Andersson Grönlund, Susann, Andersson, Rebecka, Åkebrand, Antovan K, Seyedi Honarvar, Kalliopi, Sofou, Niklas, Darin, Mar, Tulinius   +6 more
openaire   +6 more sources