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Year Number of Results
2017 3
2018 3
2019 9
2020 3
2021 5
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22 results
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Page 1
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.
Arboleda-Velasquez JF, Lopera F, O'Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT. Arboleda-Velasquez JF, et al. Among authors: naymik m. Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3. Epub 2019 Nov 4. Nat Med. 2019. PMID: 31686034 Free PMC article.
Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease.
Piras IS, Bleul C, Schrauwen I, Talboom J, Llaci L, De Both MD, Naymik MA, Halliday G, Bettencourt C, Holton JL, Serrano GE, Sue LI, Beach TG, Stefanova N, Huentelman MJ. Piras IS, et al. Among authors: naymik ma. Acta Neuropathol Commun. 2020 Jun 3;8(1):76. doi: 10.1186/s40478-020-00950-5. Acta Neuropathol Commun. 2020. PMID: 32493431 Free PMC article.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Piras IS, Mills G, Llaci L, Naymik M, Ramsey K, Belnap N, Balak CD, Jepsen WM, Szelinger S, Siniard AL, Lewis CR, LaFleur M, Richholt RF, De Both MD, Avela K, Rangasamy S, Craig DW, Narayanan V, Järvelä I, Huentelman MJ, Schrauwen I. Piras IS, et al. Among authors: naymik m. Epigenomics. 2017 Nov;9(11):1373-1386. doi: 10.2217/epi-2017-0060. Epub 2017 Oct 2. Epigenomics. 2017. PMID: 28967789
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Jepsen WM, Ramsey K, Szelinger S, Llaci L, Balak C, Belnap N, Bilagody C, De Both M, Gupta R, Naymik M, Pandey R, Piras IS, Sanchez-Castillo M, Rangasamy S, Narayanan V, Huentelman MJ. Jepsen WM, et al. Among authors: naymik m. Clin Genet. 2019 Aug;96(2):183-185. doi: 10.1111/cge.13580. Epub 2019 Jun 24. Clin Genet. 2019. PMID: 31236915 Free PMC article.
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Llaci L, Ramsey K, Belnap N, Claasen AM, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Izat T, Naymik M, De Both M, Piras IS, Craig DW, Huentelman MJ, Narayanan V, Schrauwen I, Rangasamy S. Llaci L, et al. Among authors: naymik m. Hum Genet. 2019 Dec;138(11-12):1409-1417. doi: 10.1007/s00439-019-02077-7. Epub 2019 Nov 20. Hum Genet. 2019. PMID: 31748968
Transcriptome response of human skeletal muscle to divergent exercise stimuli.
Dickinson JM, D'Lugos AC, Naymik MA, Siniard AL, Wolfe AJ, Curtis DR, Huentelman MJ, Carroll CC. Dickinson JM, et al. Among authors: naymik ma. J Appl Physiol (1985). 2018 Jun 1;124(6):1529-1540. doi: 10.1152/japplphysiol.00014.2018. Epub 2018 Mar 15. J Appl Physiol (1985). 2018. PMID: 29543133 Free article.
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