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Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: menezes mj. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG, Nafisinia M, Menezes MJ, Nambiar R, Williams A, Barnes EH, Selvanathan A, Lichkus K, Bratkovic D, Yaplito-Lee J, Bhattacharya K, Ellaway C, Kava M, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: menezes mj. Mol Genet Metab. 2022 Jan;135(1):63-71. doi: 10.1016/j.ymgme.2021.12.001. Epub 2021 Dec 8. Mol Genet Metab. 2022. PMID: 34991945
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: menezes mj. Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21. Genet Med. 2020. PMID: 32313153 Free article.
Monitoring the Efficacy of Chloroquine-Primaquine Therapy for Uncomplicated Plasmodium vivax Malaria in the Main Transmission Hot Spot of Brazil.
Ladeia-Andrade S, Menezes MJ, de Sousa TN, Silvino ACR, de Carvalho JF Jr, Salla LC, Nery OA, de Melo GNP, Corder RM, Rodrigues PT, Ferreira MU. Ladeia-Andrade S, et al. Among authors: menezes mj. Antimicrob Agents Chemother. 2019 Apr 25;63(5):e01965-18. doi: 10.1128/AAC.01965-18. Print 2019 May. Antimicrob Agents Chemother. 2019. PMID: 30782991 Free PMC article. Clinical Trial.
Enhanced Ex Vivo Plasmodium vivax Intraerythrocytic Enrichment and Maturation for Rapid and Sensitive Parasite Growth Assays.
Rangel GW, Clark MA, Kanjee U, Lim C, Shaw-Saliba K, Menezes MJ, Mascarenhas A, Chery L, Gomes E, Rathod PK, Ferreira MU, Duraisingh MT. Rangel GW, et al. Among authors: menezes mj. Antimicrob Agents Chemother. 2018 Mar 27;62(4):e02519-17. doi: 10.1128/AAC.02519-17. Print 2018 Apr. Antimicrob Agents Chemother. 2018. PMID: 29378713 Free PMC article.
Transferrin receptor 1 is a reticulocyte-specific receptor for Plasmodium vivax.
Gruszczyk J, Kanjee U, Chan LJ, Menant S, Malleret B, Lim NTY, Schmidt CQ, Mok YF, Lin KM, Pearson RD, Rangel G, Smith BJ, Call MJ, Weekes MP, Griffin MDW, Murphy JM, Abraham J, Sriprawat K, Menezes MJ, Ferreira MU, Russell B, Renia L, Duraisingh MT, Tham WH. Gruszczyk J, et al. Among authors: menezes mj. Science. 2018 Jan 5;359(6371):48-55. doi: 10.1126/science.aan1078. Science. 2018. PMID: 29302006 Free PMC article.
Genome-wide diversity and differentiation in New World populations of the human malaria parasite Plasmodium vivax.
de Oliveira TC, Rodrigues PT, Menezes MJ, Gonçalves-Lopes RM, Bastos MS, Lima NF, Barbosa S, Gerber AL, Loss de Morais G, Berná L, Phelan J, Robello C, de Vasconcelos ATR, Alves JMP, Ferreira MU. de Oliveira TC, et al. Among authors: menezes mj. PLoS Negl Trop Dis. 2017 Jul 31;11(7):e0005824. doi: 10.1371/journal.pntd.0005824. eCollection 2017 Jul. PLoS Negl Trop Dis. 2017. PMID: 28759591 Free PMC article.
29 results