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Impaired kidney structure and function in spinal muscular atrophy.
Nery FC, Siranosian JJ, Rosales I, Deguise MO, Sharma A, Muhtaseb AW, Nwe P, Johnstone AJ, Zhang R, Fatouraei M, Huemer N, Alves CRR, Kothary R, Swoboda KJ. Nery FC, et al. Neurol Genet. 2019 Aug 12;5(5):e353. doi: 10.1212/NXG.0000000000000353. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517062 Free PMC article.
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Ruhno C, et al. Among authors: nery fc. Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 Free PMC article.
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.
Vallabh SM, Nobuhara CK, Llorens F, Zerr I, Parchi P, Capellari S, Kuhn E, Klickstein J, Safar JG, Nery FC, Swoboda KJ, Geschwind MD, Zetterberg H, Arnold SE, Minikel EV, Schreiber SL. Vallabh SM, et al. Among authors: nery fc. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):7793-7798. doi: 10.1073/pnas.1901947116. Epub 2019 Apr 1. Proc Natl Acad Sci U S A. 2019. PMID: 30936307 Free PMC article.
26 results