Results 141 to 150 of about 15,339 (211)

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

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

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

Leigh syndrome with nephrotic syndrome [PDF]

, 2020
openaire   +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

Disruption of <i>Lrpprc</i> affects B cell development and proliferation in a mouse model of Leigh Syndrome French Canadian type. [PDF]

J Rare Dis (Berlin)
Fois A, Deschênes S, Bourel C, Beauchamp C, Lombard-Vadnais F, Ruiz M, Charron G, Coderre L, LSFC Consortium, Rioux JD, Lesage S.   +10 more
europepmc   +1 more source

Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome. [PDF]

Pediatr Radiol
Dupré M, Warne R, Shipman P, Kava M, Ghia T, Loughman L, Lakshmanan R.   +6 more
europepmc   +1 more source

Ndufs4 inactivation in glutamatergic neurons reveals swallow-breathing discoordination in a mouse model of Leigh syndrome. [PDF]

Exp Neurol
Huff A, Oliveira LM, Karlen-Amarante M, Ebiala F, Ramirez JM, Kalume F.   +5 more
europepmc   +1 more source

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing. [PDF]

Neurogenetics
Li BG, Wu WJ, Wang LH, Wang X, Liu C, Du YK, Li BC, Hu JT, Sun SZ.   +8 more
europepmc   +1 more source

Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome. [PDF]

Nat Metab
Nakai R, Varnum S, Field RL, Shi H, Giwa R, Jia W, Krysa SJ, Cohen EF, Borcherding N, Saneto RP, Tsai RC, Suganuma M, Ohta H, Yokota T, Brestoff JR.   +14 more
europepmc   +1 more source