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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. Thiffault I, et al. Among authors: fung e. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623. Nat Commun. 2015. PMID: 26151409 Free PMC article.
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C; DDD Study,; Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Gauquelin L, et al. Among authors: fung el. Neurol Genet. 2019 Oct 30;5(6):e369. doi: 10.1212/NXG.0000000000000369. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042905 Free PMC article.
Review and update of the Hong Kong Epilepsy Guideline on status epilepticus.
Fung EL, Fung BB; Subcommittee on the Consensus Statement of the Hong Kong Epilepsy Society. Fung EL, et al. Among authors: fung bb. Hong Kong Med J. 2017 Feb;23(1):67-73. doi: 10.12809/hkmj166025. Epub 2017 Jan 6. Hong Kong Med J. 2017. PMID: 28057897 Free article. Review.
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.
Chan SHS, Lo IFM, Cherk SWW, Cheng WW, Fung ELW, Yeung WL, Ngan M, Lee WC, Kwong L, Wong SN, Ma CK, Tai SM, Ng GSF, Wu SP, Wong VCN. Chan SHS, et al. Child Neurol Open. 2015 May 26;2(2):2329048X15585345. doi: 10.1177/2329048X15585345. eCollection 2015 Apr-Jun. Child Neurol Open. 2015. PMID: 28503591 Free PMC article.
545 results