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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: albano g. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33506793
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
Dhayat N, Simonin A, Anderegg M, Pathare G, Lüscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG. Dhayat N, et al. Among authors: albano g. J Am Soc Nephrol. 2016 May;27(5):1426-36. doi: 10.1681/ASN.2015040411. Epub 2015 Sep 16. J Am Soc Nephrol. 2016. PMID: 26376857 Free PMC article.
Discovery of novel gating checkpoints in the Orai1 calcium channel by systematic analysis of constitutively active mutants of its paralogs and orthologs.
Augustynek B, Gyimesi G, Dernič J, Sallinger M, Albano G, Klesse GJ, Kandasamy P, Grabmayr H, Frischauf I, Fuster DG, Peinelt C, Hediger MA, Bhardwaj R. Augustynek B, et al. Among authors: albano g. Cell Calcium. 2022 Jul;105:102616. doi: 10.1016/j.ceca.2022.102616. Epub 2022 Jun 22. Cell Calcium. 2022. PMID: 35792401 Free article.
249 results