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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.
Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.
Kari E, Schrauwen I, Llaci L, Fisher LM, Go JL, Naymik M, Knowles JA, Huentelman MJ, Friedman RA. Kari E, et al. Among authors: naymik m. Neurol Genet. 2017 May 11;3(3):e153. doi: 10.1212/NXG.0000000000000153. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28534045 Free PMC article. No abstract available.
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.
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. 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.
31 results