Mugdha Joshi

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi et al. · The American Journal of Human Genetics · 2014 · 164 citations · Full text

Medicine, Cardiology, Molecular Medicine +5

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance

Piyush Agrawal, Mugdha Joshi, Tatjana Savić et al. · Human Molecular Genetics · 2012 · 89 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Cofilin-2 Phosphorylation and Sequestration in Myocardial Aggregates

Khaushik Subramanian, Davide Gianni, Cristina Balla et al. · Journal of the American College of Cardiology · 2015 · 76 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

Whole genome sequencing identifies <scp><i>SCN2A</i></scp> mutation in monozygotic twins with <scp>O</scp>htahara syndrome and unique neuropathologic findings

Marlin Touma, Mugdha Joshi, Meghan Connolly et al. · Epilepsia · 2013 · 55 citations · Full text

Life Sciences, Genetics, Neurology +17

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

Mugdha Joshi, Jacqueline Eagan, Nirav K. Desai et al. · European Journal of Human Genetics · 2014 · 54 citations · Full text

Medicine, Endocrinology, Genetics +14