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Tsix-Mecp2 female mouse model for Rett syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function.
Carrette LLG, Blum R, Ma W, Kelleher RJ 3rd, Lee JT. Carrette LLG, et al. Among authors: kelleher rj 3rd. Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):8185-8190. doi: 10.1073/pnas.1800931115. Epub 2018 Jul 23. Proc Natl Acad Sci U S A. 2018. PMID: 30038001 Free PMC article.
A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders.
Carrette LLG, Wang CY, Wei C, Press W, Ma W, Kelleher RJ 3rd, Lee JT. Carrette LLG, et al. Among authors: kelleher rj 3rd. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E668-E675. doi: 10.1073/pnas.1715124115. Epub 2017 Dec 27. Proc Natl Acad Sci U S A. 2018. PMID: 29282321 Free PMC article.
Presenilin-1 mutations and Alzheimer's disease.
Kelleher RJ 3rd, Shen J. Kelleher RJ 3rd, et al. Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):629-631. doi: 10.1073/pnas.1619574114. Epub 2017 Jan 12. Proc Natl Acad Sci U S A. 2017. PMID: 28082723 Free PMC article. No abstract available.
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
Xia D, Kelleher RJ 3rd, Shen J. Xia D, et al. Among authors: kelleher rj 3rd. Neuron. 2016 Apr 20;90(2):417-22. doi: 10.1016/j.neuron.2016.03.009. Neuron. 2016. PMID: 27100200 Free PMC article.
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
Xia D, Watanabe H, Wu B, Lee SH, Li Y, Tsvetkov E, Bolshakov VY, Shen J, Kelleher RJ 3rd. Xia D, et al. Among authors: kelleher rj 3rd. Neuron. 2015 Mar 4;85(5):967-81. doi: 10.1016/j.neuron.2015.02.010. Neuron. 2015. PMID: 25741723 Free PMC article.
Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV.
Grishchuk Y, Sri S, Rudinskiy N, Ma W, Stember KG, Cottle MW, Sapp E, Difiglia M, Muzikansky A, Betensky RA, Wong AM, Bacskai BJ, Hyman BT, Kelleher RJ 3rd, Cooper JD, Slaugenhaupt SA. Grishchuk Y, et al. Among authors: kelleher rj 3rd. Acta Neuropathol Commun. 2014 Sep 9;2:133. doi: 10.1186/s40478-014-0133-7. Acta Neuropathol Commun. 2014. PMID: 25200117 Free PMC article.
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
Heilig EA, Gutti U, Tai T, Shen J, Kelleher RJ 3rd. Heilig EA, et al. Among authors: kelleher rj 3rd. J Neurosci. 2013 Jul 10;33(28):11606-17. doi: 10.1523/JNEUROSCI.0954-13.2013. J Neurosci. 2013. PMID: 23843529 Free PMC article.
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Kelleher RJ 3rd, Geigenmüller U, Hovhannisyan H, Trautman E, Pinard R, Rathmell B, Carpenter R, Margulies D. Kelleher RJ 3rd, et al. PLoS One. 2012;7(4):e35003. doi: 10.1371/journal.pone.0035003. Epub 2012 Apr 27. PLoS One. 2012. PMID: 22558107 Free PMC article.
Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice.
Watanabe H, Xia D, Kanekiyo T, Kelleher RJ 3rd, Shen J. Watanabe H, et al. Among authors: kelleher rj 3rd. J Neurosci. 2012 Apr 11;32(15):5085-96. doi: 10.1523/JNEUROSCI.0317-12.2012. J Neurosci. 2012. PMID: 22496554 Free PMC article.
Tsx produces a long noncoding RNA and has general functions in the germline, stem cells, and brain.
Anguera MC, Ma W, Clift D, Namekawa S, Kelleher RJ 3rd, Lee JT. Anguera MC, et al. Among authors: kelleher rj 3rd. PLoS Genet. 2011 Sep;7(9):e1002248. doi: 10.1371/journal.pgen.1002248. Epub 2011 Sep 1. PLoS Genet. 2011. PMID: 21912526 Free PMC article.
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