Results 151 to 160 of about 50,342 (212)

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

The California Alpha-Fetoprotein Screening Program: An Advocacy Program for Handicapped Children [PDF]

, 1987
Marmion, Pat
core   +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

Interferon-gamma contributes to disease progression in the Ndufs4(-/-) model of Leigh syndrome. [PDF]

Neuropathol Appl Neurobiol
Hanaford AR, Khanna A, James K, Truong V, Liao R, Chen Y, Mulholland M, Kayser EB, Watanabe K, Hsieh ES, Sedensky M, Morgan PG, Kalia V, Sarkar S, Johnson SC, Johnson SC.   +15 more
europepmc   +1 more source

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency. [PDF]

Orphanet J Rare Dis
Dong Q, Yin X, Fan S, Zhong S, Yang W, Chen K, Wang Q, Ma X, Mahlatsi RL, Yang Y, Lyu J, Fang H, Wang Y.   +12 more
europepmc   +1 more source

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome. [PDF]

Am J Med Genet A
Yeole M, Majethia P, Siddiqui S, Girisha KM, Shukla A, Radhakrishnan P, Bhat V.   +6 more
europepmc   +1 more source

Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome. [PDF]

Sci Rep
Kobayashi M, Miyauchi A, Jimbo EF, Oishi N, Aoki S, Watanabe M, Yoshikawa Y, Akiyama Y, Yamagata T, Osaka H.   +9 more
europepmc   +1 more source