Results 191 to 200 of about 6,089,967 (287)

Severe Chemoradiotherapy Toxicity in a Pediatric Patient with Leigh Syndrome and Grade IV Isocitrate Dehydrogenase-Mutant Astrocytoma: A Case Report. [PDF]

Am J Case Rep
Granberry MT, Severance T, Biedermann G, Quinsey C, Mazuru DG, Bach A.   +5 more
europepmc   +1 more source

Étude de la voie biologique du facteur induit par l'hypoxie (hypoxia-inducible factor (HIF) 1) dans le contexte du syndrome de Leigh type Canadien-Français [PDF]

, 2014
Jessica Tardif
openalex  

Decision letter for "Genotype‐phenotype analysis of MT‐ATP6 ‐associated Leigh syndrome"

, 2021

openalex   +1 more source

Disruption of adaptive immunity does not attenuate disease in the Ndufs4(-/-) model of Leigh syndrome. [PDF]

PLoS One
Hanaford AR, Khanna A, Truong V, James K, Liao R, Chen Y, Mulholland M, Kayser EB, Watanabe K, Hsieh ES, Morgan PG, Sarkar S, Kalia V, Johnson SC.   +13 more
europepmc   +1 more source

Safe use of sugammadex and 5% dextrose in 0.45% saline in Leigh syndrome. [PDF]

Indian J Anaesth
Okafor CV, Tumin D, Cai SR, Hutton AL.
europepmc   +1 more source

The prevalence of mitochondrial DNA mutations in Leigh syndrome in a Brazilian series

, 2014
Suely Kazue Nagahashi Marie, Sueli Mieko Oba‐Shinjo, Maria Joaquina Marques‐Dias, Sérgio Rosemberg, Fernando Kok, Umbertina Conti Reed   +5 more
openalex   +1 more source

From Diabetes to Neuropathy: A Diagnostic Journey to Leigh Syndrome. [PDF]

Iran J Child Neurol
Behzadi A, Poormehr P, Saneifard H, Shakiba M.   +3 more
europepmc   +1 more source

Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome

, 2019
Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marlène Rio, N. Bodaert, Zahra Assouline, Mingma D. Sherpa, Eric E. Schadt, Sander M. Houten, James R. Byrnes, Elizabeth M. McCormick, Zarazuela Zolkipli‐Cunningham, Katrina Haude, Zhiqian Zhang, Kyle Retterer, Ruobing Bai, Sarah E. Calvo, Vamsi K. Mootha, John Christodoulou, Agnès Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J. Falk, Metodi D. Metodiev, David R. Thorburn   +30 more
openalex   +1 more source

Case Report: Biallelic variants in <i>MRPS36</i>, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome. [PDF]

Front Pediatr
Jiang H, Xu C, Liu Z, Duan R, Yao X, Fu X, Xu J, Kang X, Yu T, Wang Y, Fang F.   +10 more
europepmc   +1 more source

Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency. [PDF]

Orphanet J Rare Dis
Kayser EB, Mulholland M, Olkhova EA, Chen Y, Coulson H, Cairns O, Truong V, James K, Johnson BM, Hanaford A, Johnson SC.   +10 more
europepmc   +1 more source