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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: anderson m. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: anderson m. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
PURA and GLUT1: Sweet partners for brain health.
Colombo RB, Maxit C, Martinelli D, Anderson M, Masone D, Mayorga L. Colombo RB, et al. Among authors: anderson m. Biochim Biophys Acta Mol Basis Dis. 2024 May 20;1870(6):167261. doi: 10.1016/j.bbadis.2024.167261. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38777099
Opioid analgesic use among patients with kidney disease: a systematic review.
Liu S, Sands MB, Kerferd JW, Fathabadi S, Khor KE, Yiu CH, Phinn K, Anderson MA, Redmayne G, Yong K, Penm J. Liu S, et al. Among authors: anderson ma. Kidney Blood Press Res. 2024 Jun 1. doi: 10.1159/000538258. Online ahead of print. Kidney Blood Press Res. 2024. PMID: 38824925 Free article.
Ninth Annual DC Public Health Case Challenge: Protective Community Environments and Their Contribution to Intimate Partner Violence Prevention: The Role of Youth.
Geller A, Baciu A, Anderson M, Abu-Hijlih M, Altaher N, Authelet K, Avelar B, Baran E, Brenner A, Chace A, Curley M, Faulkner R, Hoffman C, Holland J, Jhaveri U, Jones M, Kim HE, Krekorian C, LeBuhn H, Ly E, Mata E, Miloh R, Naumova A, Parsons A, Pappier G, Patriarca PN, Pierson B, Rafi R, Raghavan P, Rice C, Santacrose L, Sheehi K, Singh A, Smith B, Smith L, Tandy H. Geller A, et al. Among authors: anderson m. NAM Perspect. 2023 Sep 6;2023:10.31478/202309a. doi: 10.31478/202309a. eCollection 2023. NAM Perspect. 2023. PMID: 38812842 Free PMC article. Review. No abstract available.
8,044 results