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Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.
Elias-Mas A, Potrony M, Bague J, Cutler DJ, Alvarez-Mora MI, Torres T, Barcos T, Puig-Butille JA, Rubio M, Madrigal I, Puig S, Allen EG, Rodriguez-Revenga L. Elias-Mas A, et al. Among authors: allen eg. Front Aging Neurosci. 2023 Jan 6;14:1073258. doi: 10.3389/fnagi.2022.1073258. eCollection 2022. Front Aging Neurosci. 2023. PMID: 36688175 Free PMC article.
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Trevino CE, Rounds JC, Charen K, Shubeck L, Hipp HS, Spencer JB, Johnston HR, Cutler DJ, Zwick ME, Epstein MP, Murray A, Macpherson JN, Mila M, Rodriguez-Revenga L, Berry-Kravis E, Hall DA, Leehey MA, Liu Y, Welt C, Warren ST, Sherman SL, Jin P, Allen EG. Trevino CE, et al. Among authors: allen eg. Fertil Steril. 2021 Sep;116(3):843-854. doi: 10.1016/j.fertnstert.2021.04.021. Epub 2021 May 18. Fertil Steril. 2021. PMID: 34016428 Free PMC article.
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Kong HE, Lim J, Linsalata A, Kang Y, Malik I, Allen EG, Cao Y, Shubeck L, Johnston R, Huang Y, Gu Y, Guo X, Zwick ME, Qin Z, Wingo TS, Juncos J, Nelson DL, Epstein MP, Cutler DJ, Todd PK, Sherman SL, Warren ST, Jin P. Kong HE, et al. Among authors: allen eg. Proc Natl Acad Sci U S A. 2022 May 31;119(22):e2118124119. doi: 10.1073/pnas.2118124119. Epub 2022 May 26. Proc Natl Acad Sci U S A. 2022. PMID: 35617426 Free PMC article.
Olfactory dysfunction in fragile X tremor ataxia syndrome.
Juncos JL, Lazarus JT, Rohr J, Allen EG, Shubeck L, Hamilton D, Novak G, Sherman SL. Juncos JL, et al. Among authors: allen eg. Mov Disord. 2012 Oct;27(12):1556-9. doi: 10.1002/mds.25043. Epub 2012 Sep 24. Mov Disord. 2012. PMID: 23079771 Free PMC article.
Metabolic Alterations in FMR1 Premutation Carriers.
Cao Y, Peng Y, Kong HE, Allen EG, Jin P. Cao Y, et al. Among authors: allen eg. Front Mol Biosci. 2020 Sep 18;7:571092. doi: 10.3389/fmolb.2020.571092. eCollection 2020. Front Mol Biosci. 2020. PMID: 33195417 Free PMC article. Review.
109 results