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1982 1
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2015 5
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2017 6
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58 results

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Page 1
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: de both md. Epigenomics. 2017 Nov;9(11):1373-1386. doi: 10.2217/epi-2017-0060. Epub 2017 Oct 2. Epigenomics. 2017. PMID: 28967789
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. Among authors: de both m. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261. Invest Ophthalmol Vis Sci. 2015. PMID: 26091538
Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.
Huentelman MJ, Piras IS, Siniard AL, De Both MD, Richholt RF, Balak CD, Jamshidi P, Bigio EH, Weintraub S, Loyer ET, Mesulam MM, Geula C, Rogalski EJ. Huentelman MJ, et al. Among authors: de both md. Front Aging Neurosci. 2018 May 29;10:155. doi: 10.3389/fnagi.2018.00155. eCollection 2018. Front Aging Neurosci. 2018. PMID: 29896098 Free PMC article.
Next-generation profiling to identify the molecular etiology of Parkinson dementia.
Henderson-Smith A, Corneveaux JJ, De Both M, Cuyugan L, Liang WS, Huentelman M, Adler C, Driver-Dunckley E, Beach TG, Dunckley TL. Henderson-Smith A, et al. Among authors: de both m. Neurol Genet. 2016 May 24;2(3):e75. doi: 10.1212/NXG.0000000000000075. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27275011 Free PMC article.
The PKC-β selective inhibitor, Enzastaurin, impairs memory in middle-aged rats.
Willeman MN, Mennenga SE, Siniard AL, Corneveaux JJ, De Both M, Hewitt LT, Tsang CWS, Caselli J, Braden BB, Bimonte-Nelson HA, Huentelman MJ. Willeman MN, et al. Among authors: de both m. PLoS One. 2018 Jun 5;13(6):e0198256. doi: 10.1371/journal.pone.0198256. eCollection 2018. PLoS One. 2018. PMID: 29870545 Free PMC article.
MindCrowd-Expanded: An Online Multi-Domain Assessment of Cognitive Aging.
Ryan L, De Both MD, Johnson M, Hoscheidt SM, Sharma S, Chambers D, Matijevic S, Huentelman M; Precision Aging® Network. Ryan L, et al. Among authors: de both md. Gerontology. 2025;71(9):773-791. doi: 10.1159/000547246. Epub 2025 Jul 14. Gerontology. 2025. PMID: 40658999
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
58 results