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Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Ylikotila P, Sipilä J, Alapirtti T, Ahmasalo R, Koshimizu E, Miyatake S, Hurme-Niiranen A, Siitonen A, Doi H, Tanaka F, Matsumoto N, Majamaa K, Kytövuori L. Ylikotila P, et al. Among authors: koshimizu e. Eur J Neurol. 2023 May;30(5):1256-1261. doi: 10.1111/ene.15717. Epub 2023 Feb 12. Eur J Neurol. 2023. PMID: 36705320
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L. Lehalle D, et al. Among authors: koshimizu e. J Med Genet. 2020 Dec;57(12):808-819. doi: 10.1136/jmedgenet-2019-106508. Epub 2020 May 14. J Med Genet. 2020. PMID: 32409512
Permanent genetic resources added to Molecular Ecology Resources Database 1 August 2012 - 30 September 2012.
Molecular Ecology Resources Primer Development Consortium; Ahanchédé A, Alfaya JE, Andersen LW, Azam D, Bautista MA, Besnard AL, Bigatti G, Bouétard A, Coutellec MA, Ewédjè EE, Fuseya R, García-Jiménez R, Haratian M, Hardy OJ, Holm LE, Hoy CW, Koshimizu E, Loeschcke V, López-Márquez V, Machado CA, Machordom A, Marchi C, Michel AP, Micheneau C, Mittapalli O, Nagai T, Okamoto N, Pan Y, Panitz F, Safaie N, Sakamoto T, Sharifnabi B, Tian EW, Yu H. Molecular Ecology Resources Primer Development Consortium, et al. Among authors: koshimizu e. Mol Ecol Resour. 2013 Jan;13(1):158-9. doi: 10.1111/1755-0998.12035. Epub 2012 Nov 26. Mol Ecol Resour. 2013. PMID: 23176377
93 results