Smith LL - Search Results

1

Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays.

Smith LL, Beggs AH, Gupta VA. Smith LL, et al. J Vis Exp. 2013 Dec 13;(82):e50925. doi: 10.3791/50925. J Vis Exp. 2013. PMID: 24378748 Free PMC article.

2

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH. Gupta VA, et al. Among authors: smith ll. PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20. PLoS Genet. 2013. PMID: 23818870 Free PMC article.

3

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.

Smith LL, Gupta VA, Beggs AH. Smith LL, et al. Hum Mol Genet. 2014 Jul 1;23(13):3566-78. doi: 10.1093/hmg/ddu067. Epub 2014 Feb 18. Hum Mol Genet. 2014. PMID: 24549043 Free PMC article.

4

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS. Patel N, et al. Among authors: smith ll. Hum Mol Genet. 2014 Dec 15;23(24):6584-93. doi: 10.1093/hmg/ddu384. Epub 2014 Jul 23. Hum Mol Genet. 2014. PMID: 25055871 Free PMC article.

5

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS. Shamseldin HE, et al. Among authors: smith ll. Hum Genet. 2016 Jan;135(1):21-30. doi: 10.1007/s00439-015-1608-8. Epub 2015 Nov 5. Hum Genet. 2016. PMID: 26541337 Free PMC article.

6

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB. Cao S, et al. Among authors: smith ll. Hum Mol Genet. 2017 Sep 15;26(18):3545-3552. doi: 10.1093/hmg/ddx239. Hum Mol Genet. 2017. PMID: 28911200 Free PMC article.

7

The Lancet Haematology at 10.

Smith LL, Del Pozo Martín Y, Cookson E. Smith LL, et al. Lancet Haematol. 2024 Oct;11(10):e709. doi: 10.1016/S2352-3026(24)00289-8. Lancet Haematol. 2024. PMID: 39362736 No abstract available.

8

Mood Disorder Public Stigma in Jewish Communities in the United States.

Smith LL, Brewer KB, Carr LC, Roe D, Gearing RE. Smith LL, et al. J Relig Health. 2024 Oct 3. doi: 10.1007/s10943-024-02146-w. Online ahead of print. J Relig Health. 2024. PMID: 39361108

9

The Effect of Power Grip on Ulnar Variance A Computed Tomography Study of the Wrist and Elbow.

Ahn JS, Rafii M, Ayalon O, Smith LL, Posner MA, Green SM. Ahn JS, et al. Among authors: smith ll. Bull Hosp Jt Dis (2013). 2024 Dec;82(4):257-260. Bull Hosp Jt Dis (2013). 2024. PMID: 39259951

10

C. auris and neighborhood socioeconomic vulnerability in the state of Maryland from 2019 to 2022.

Smith LL, Falvey J, Grace B, Vaeth E, Rubin J, Perlmutter R, Blythe D, Hawkins D, Mbuthia M, Roghmann MC, Rock C, Leekha S. Smith LL, et al. Infect Control Hosp Epidemiol. 2024 Jul 30:1-7. doi: 10.1017/ice.2024.98. Online ahead of print. Infect Control Hosp Epidemiol. 2024. PMID: 39075017

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