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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: fruttiger m. 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: fruttiger m. 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.
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.
Rodrigues FG, Pipis M, Heeren TFC, Fruttiger M, Gantner M, Vermeirsch S, Okada M, Friedlander M, Reilly MM, Egan C. Rodrigues FG, et al. Among authors: fruttiger m. J Peripher Nerv Syst. 2022 Sep;27(3):215-224. doi: 10.1111/jns.12508. Epub 2022 Aug 1. J Peripher Nerv Syst. 2022. PMID: 35837722
Analysis of candidate genes for macular telangiectasia type 2.
Parmalee NL, Schubert C, Merriam JE, Allikmets K, Bird AC, Gillies MC, Peto T, Figueroa M, Friedlander M, Fruttiger M, Greenwood J, Moss SE, Smith LE, Toomes C, Inglehearn CF, Allikmets R. Parmalee NL, et al. Among authors: fruttiger m. Mol Vis. 2010 Dec 14;16:2718-26. Mol Vis. 2010. PMID: 21179236 Free PMC article.
137 results