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Page 1
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Madeo M, et al. Among authors: muraresku cc. Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236917 Free PMC article.
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X. Shen L, et al. Among authors: muraresku cc. Hum Mutat. 2016 Jun;37(6):540-548. doi: 10.1002/humu.22974. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26919060 Free PMC article.
Risk factors for poor bone health in primary mitochondrial disease.
Gandhi SS, Muraresku C, McCormick EM, Falk MJ, McCormack SE. Gandhi SS, et al. J Inherit Metab Dis. 2017 Sep;40(5):673-683. doi: 10.1007/s10545-017-0046-2. Epub 2017 Apr 27. J Inherit Metab Dis. 2017. PMID: 28451918 Free PMC article.
Mitochondrial Genomics: A complex field now coming of age.
McCormick EM, Muraresku CC, Falk MJ. McCormick EM, et al. Among authors: muraresku cc. Curr Genet Med Rep. 2018 Jun;6(2):52-61. doi: 10.1007/s40142-018-0137-x. Epub 2018 May 2. Curr Genet Med Rep. 2018. PMID: 30386685 Free PMC article.
The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders.
Gonçalves FG, Hill B, Guo Y, Muraresku CC, McCormick E, Alves CAPF, Teixeira SR, Martin-Saavedra JS, Zolkipli-Cunningham Z, Falk MJ, Vossough A, Goldstein A, Zuccoli G. Gonçalves FG, et al. Among authors: muraresku cc. AJNR Am J Neuroradiol. 2020 May;41(5):917-922. doi: 10.3174/ajnr.A6514. Epub 2020 May 7. AJNR Am J Neuroradiol. 2020. PMID: 32381541 Free PMC article.
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Ganetzky R, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Ann Neurol. 2020 Aug;88(2):218-232. doi: 10.1002/ana.25789. Epub 2020 Jun 13. Ann Neurol. 2020. PMID: 32445240
Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".
Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Zolkipli-Cunningham Z, Ganetzky R, Falk MJ, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Ann Neurol. 2021 Mar;89(3):631-633. doi: 10.1002/ana.25999. Epub 2021 Jan 5. Ann Neurol. 2021. PMID: 33368550 No abstract available.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
28 results