Results 141 to 150 of about 50,342 (212)

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

Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum. [PDF]

Brain Commun
Rahman S.
europepmc   +1 more source

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome. [PDF]

Am J Hum Genet
Antonicka H, Weraarpachai W, Szigety KM, Kopajtich R, Gibson JB, Van Hove JLK, Friederich MW, Lopriore P, Neuhofer C, Van Hove RA, Cole MA, Reisdorph R, Peterson JT, Dempsey KJ, Ganetzky RD, Mancuso M, Prokisch H, Shoubridge EA.   +17 more
europepmc   +1 more source

Progressive Supranuclear Palsy [PDF]

, 2012
Hoelzle, James B
core   +1 more source

Disease models of Leigh syndrome: From yeast to organoids. [PDF]

J Inherit Metab Dis
Henke MT, Prigione A, Schuelke M.
europepmc   +1 more source

False Promises of Protection: Black Women, Trans People & the Struggle for Visibility as Victims of Intimate Partner and Gendered Violence [PDF]

, 2018
Ijoma, Samone
core   +1 more source

Rare presentation of dandy-walker variant syndrome associated with leigh syndrome: a promising therapeutic approach for prognosis in children related in a case report. [PDF]

Oxf Med Case Reports
Pires BF, Lopo GIS, Siqueira AR, Felisberto LR, Martini RS, Alves ABV, Silva ACR, Carvalho FXL, Aliseda AP, Martins MM, Salgado CK, da Silveira Junior SB, Jacob CGF.   +12 more
europepmc   +1 more source

Leigh syndrome with nephrotic syndrome [PDF]

, 2020
openaire   +1 more source

Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome. [PDF]

BMC Res Notes
Voges TS, Lim EB, MacKenzie A, Mudler K, DeSouza R, Onyejekwe NE, Johnston SD.   +6 more
europepmc   +1 more source