K08 NS091381/NS/NINDS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2016	2
2017	1
2018	4
2019	3
2020	4
2024	0

1

Exonic deletion of SLC9A9 in autism with epilepsy.

Cardon M, Evankovich KD, Holder JL Jr. Cardon M, et al. Neurol Genet. 2016 Feb 25;2(2):e62. doi: 10.1212/NXG.0000000000000062. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123481 Free PMC article.

2

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL Jr, Betancur C, Buxbaum JD, Kolevzon A. De Rubeis S, et al. Mol Autism. 2018 Apr 27;9:31. doi: 10.1186/s13229-018-0205-9. eCollection 2018. Mol Autism. 2018. PMID: 29719671 Free PMC article.

3

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.

Holder JL Jr, Quach MM. Holder JL Jr, et al. Epilepsia. 2016 Oct;57(10):1651-1659. doi: 10.1111/epi.13506. Epub 2016 Aug 24. Epilepsia. 2016. PMID: 27554343 Free PMC article.

4

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability.

Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL Jr, Zoghbi HY. Wang L, et al. Mol Psychiatry. 2020 Oct;25(10):2504-2516. doi: 10.1038/s41380-018-0325-9. Epub 2019 Jan 29. Mol Psychiatry. 2020. PMID: 30696942 Free PMC article.

5

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.

Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL Jr, Zoghbi HY. Wang L, et al. Mol Psychiatry. 2020 Oct;25(10):2534-2555. doi: 10.1038/s41380-018-0324-x. Epub 2019 Jan 4. Mol Psychiatry. 2020. PMID: 30610205 Free PMC article.

6

SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons.

Llamosas N, Arora V, Vij R, Kilinc M, Bijoch L, Rojas C, Reich A, Sridharan B, Willems E, Piper DR, Scampavia L, Spicer TP, Miller CA, Holder JL, Rumbaugh G. Llamosas N, et al. J Neurosci. 2020 Oct 7;40(41):7980-7994. doi: 10.1523/JNEUROSCI.1367-20.2020. Epub 2020 Sep 4. J Neurosci. 2020. PMID: 32887745 Free PMC article.

7

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.

Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL Jr, Bi W. Zhu W, et al. Am J Med Genet A. 2018 Apr;176(4):973-979. doi: 10.1002/ajmg.a.38622. Epub 2018 Feb 9. Am J Med Genet A. 2018. PMID: 29423971 Free PMC article.

8

SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.

Michaelson SD, Ozkan ED, Aceti M, Maity S, Llamosas N, Weldon M, Mizrachi E, Vaissiere T, Gaffield MA, Christie JM, Holder JL Jr, Miller CA, Rumbaugh G. Michaelson SD, et al. Nat Neurosci. 2018 Dec;21(12):1-13. doi: 10.1038/s41593-018-0268-0. Epub 2018 Nov 21. Nat Neurosci. 2018. PMID: 30455457 Free PMC article.

9

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior.

Creson TK, Rojas C, Hwaun E, Vaissiere T, Kilinc M, Jimenez-Gomez A, Holder JL Jr, Tang J, Colgin LL, Miller CA, Rumbaugh G. Creson TK, et al. Elife. 2019 Apr 26;8:e46752. doi: 10.7554/eLife.46752. Elife. 2019. PMID: 31025938 Free PMC article.

10

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.

Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA. Scott TM, et al. Hum Mutat. 2020 May;41(5):921-925. doi: 10.1002/humu.23992. Epub 2020 Feb 7. Hum Mutat. 2020. PMID: 31999386 Free PMC article.

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