Results 241 to 250 of about 12,985,405 (284)

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

American Journal of Medical Genetics. Part A, 2017
R. Lamont, C. Beaulieu, F. Bernier, R. Sparkes, A. Innes, C. Jackel-Cram, C. Ober, J. Parboosingh, E. Lemire   +8 more
semanticscholar   +1 more source

Miniaturized 1H-NMR method for analyzing limited-quantity samples applied to a mouse model of Leigh disease

Metabolomics, 2018
S. Mason, Karin Terburgh, R. Louw
semanticscholar   +1 more source

Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity

Pediatric Radiology, 2016
M. Whitehead, Bonmyong Lee, A. Gropman
semanticscholar   +1 more source

Gait analysis in a mouse model resembling Leigh disease

Behavioural Brain Research, 2016
R. D. Haas, F. Russel, J. Smeitink
semanticscholar   +1 more source

Leigh disease: A case report

2014
The mitochondrial cytopathies in children are clinically and genetically heterogeneous group of disorders leading to involvement of nervous system and other organ systems. Subacute necrotizing encephalomyelopathy, called Leigh Disease is a type of these disorders.
SEREN, Lale Pulat, İPEK, İlke Özahi, ÇAĞRIL, Serap Ceran, BOZAYKUT, Abdülkadir   +3 more
openaire   +1 more source

Leigh disease due to SCO2 mutations revealed at extended autopsy

Journal of Clinical Pathology, 2015
T. Szymańska-Dębińska, A. Karkucińska-Więckowska, D. Piekutowska-Abramczuk, E. Jurkiewicz, K. Iwanicka-Pronicka, D. Rokicki, M. Pronicki   +6 more
semanticscholar   +1 more source

Leigh’s Disease

2021
openaire   +1 more source

Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease

Sleep and Breathing, 2013
C. Mermigkis, I. Bouloukaki, V. Mastorodemos, A. Plaitakis, Vangelis Alogdianakis, N. Siafakas, S. Schiza   +6 more
semanticscholar   +1 more source

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

Mitochondrion (Amsterdam. Print), 2013
Carter D Wray, Marisa W Friederich, D. du Sart, Sarah-Jane Pantaleo, J. Smet, C. Kucera, L. Fenton, G. Scharer, R. Van Coster, J. V. Van Hove   +9 more
semanticscholar   +1 more source

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

Annals of Neurology, 2020
Cesar Alves, Juan Sebastian Martin-Saavedra, Elizabeth M Mccormick   +2 more
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