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Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease.
Green CR, Bonelli R, Ansell BRE, Tzaridis S, Handzlik MK, McGregor GH, Hart B, Trombley J, Reilly MM, Bernstein PS, Egan C, Fruttiger M, Wallace M, Bahlo M, Friedlander M, Metallo CM, Gantner ML. Green CR, et al. Among authors: bonelli r. Mol Metab. 2023 Jun;72:101716. doi: 10.1016/j.molmet.2023.101716. Epub 2023 Mar 28. Mol Metab. 2023. PMID: 36997154 Free PMC article.
Genome-wide analyses identify common variants associated with macular telangiectasia type 2.
Scerri TS, Quaglieri A, Cai C, Zernant J, Matsunami N, Baird L, Scheppke L, Bonelli R, Yannuzzi LA, Friedlander M; MacTel Project Consortium; Egan CA, Fruttiger M, Leppert M, Allikmets R, Bahlo M. Scerri TS, et al. Among authors: bonelli r. Nat Genet. 2017 Apr;49(4):559-567. doi: 10.1038/ng.3799. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250457 Free article.
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, Bonelli R, Giles S, Harkins-Perry S, Heeren TFC, Sauer L, Ideguchi Y, Baldini M, Scheppke L, Dorrell MI, Kitano M, Hart BJ, Cai C, Nagasaki T, Badur MG, Okada M, Woods SM, Egan C, Gillies M, Guymer R, Eichler F, Bahlo M, Fruttiger M, Allikmets R, Bernstein PS, Metallo CM, Friedlander M. Gantner ML, et al. Among authors: bonelli r. N Engl J Med. 2019 Oct 10;381(15):1422-1433. doi: 10.1056/NEJMoa1815111. Epub 2019 Sep 11. N Engl J Med. 2019. PMID: 31509666 Free PMC article.
171 results