Results 151 to 160 of about 15,339 (211)

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

Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2. [PDF]

J Clin Invest
Lo CH, Liu Z, Chen S, Lin F, Berneshawi AR, Yu CQ, Koo EB, Kowal TJ, Ning K, Hu Y, Wang WJ, Liao YJ, Sun Y.   +12 more
europepmc   +1 more source

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report. [PDF]

Eur J Hum Genet
Ferrera G, Derderian K, Izzo R, Gnutti B, Legati A, Zorzi G, Lamantea E, Iuso A, Ardissone A.   +8 more
europepmc   +1 more source

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Neurophysiological studies in the Leigh syndrome

Brain and Development, 1986
We performed neurophysiological studies in 12 patients with the Leigh syndrome (6 pathologically confirmed and 6 clinically diagnosed). The results are compared with data derived from a literature survey of 173 Leigh syndrome patients. We found no positive contribution of neurophysiological studies towards the diagnosis of the Leigh syndrome.
E J Colon, W O Renier, P M Van Erven
exaly   +3 more sources

Leigh’s syndrome

The Indian Journal of Pediatrics, 2004
A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of milestones since 12 months of age.
A A S R, Mannan, M C, Sharma, P, Shrivastava, A M, Ralte, V, Gupta, M, Behari, C, Sarkar   +6 more
openaire   +2 more sources