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Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Magrinelli F, Cali E, Braga VL, Yis U, Tomoum H, Shamseldin H, Raiman J, Kernstock C, Rezende Filho FM, Barsottini OGP, Taylor RW, Østergaard E, Tamim A, Schäferhoff K, Sallum JMF, Zaki MS, Kok F, Bhatia KP, Wissinger B, Sergeant K, Haack TB, Horvath R, Hiz S, Alkuraya FS, Houlden H, Pedroso JL, Maroofian R. Magrinelli F, et al. Among authors: rezende filho fm. Mov Disord Clin Pract. 2022 Jan 3;9(2):218-228. doi: 10.1002/mdc3.13398. eCollection 2022 Feb. Mov Disord Clin Pract. 2022. PMID: 35141356 Free PMC article.
An Unusual Fundus Finding in a Teenage Girl.
Rezende Filho FM, Pedroso JL, Barsottini OGP. Rezende Filho FM, et al. JAMA Neurol. 2018 Dec 1;75(12):1566-1567. doi: 10.1001/jamaneurol.2018.3108. JAMA Neurol. 2018. PMID: 30326009 No abstract available.
Aniridia as a clue for the diagnosis of Gillespie syndrome.
Rezende Filho FM, Pedroso JL, Freitas JL, Teixeira LF, Barsottini OGP. Rezende Filho FM, et al. Arq Neuropsiquiatr. 2020 Jun;78(6):383. doi: 10.1590/0004-282X20200013. Arq Neuropsiquiatr. 2020. PMID: 32609195 Free article. No abstract available.
31 results