L. L. Smith

发表

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

F. Alkuraya, Y. Xiong, Vandana A Gupta, 2015, Human Genetics.

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

C. Brownstein, A. Beggs, S. Morton, 2017, Human molecular genetics.

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

F. Alkuraya, E. Faqeih, Vandana A Gupta, 2014, Human molecular genetics.

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

A. Beggs, Vandana A Gupta, L. L. Smith, 2014, Human molecular genetics.

ZBTB 42 Mutation Defines A Novel Lethal Congenital Contracture Syndrome ( LCCS 6 )

F. Alkuraya, E. Faqeih, Vandana A Gupta, 2014 .

Gene Discovery in Congenital Myopathy

A. Beggs, Vandana A Gupta, L. L. Smith, 2016 .

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

Alan H Beggs, A. Beggs, Laura L Smith, 2013, Journal of visualized experiments : JoVE.

Zebrafish Models of Congenital Myopathy

L. L. Smith, 2015 .

Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

A. Beggs, L. Amoasii, J. Laporte, 2013, PLoS genetics.

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

F. Alkuraya, Y. Xiong, Vandana A Gupta, 2015, Human Genetics.

Traitement de la myopathie

A. Beggs, Vandana A Gupta, L. L. Smith, 2016 .

The epidemiology of bacillary angiomatosis and bacillary peliosis.

C. Kemper, B. Swaminathan, J. Tappero, 1993, JAMA.