User profiles for Mugdha Joshi
Mugdha JoshiResearch Fellow Verified email at iupui.edu Cited by 833 |
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased
numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common …
numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common …
Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of …
Cofilin-2, a small actin-binding protein and member of the AC protein family that includes
cofilin-1 and destrin, is predominantly expressed at sarcomeres in skeletal and cardiac muscles…
cofilin-1 and destrin, is predominantly expressed at sarcomeres in skeletal and cardiac muscles…
Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathy
Background : Recently, tangles and plaque-like aggregates have been identified in certain
cases of dilated cardiomyopathy (DCM), traditionally labeled idiopathic (iDCM), where there …
cases of dilated cardiomyopathy (DCM), traditionally labeled idiopathic (iDCM), where there …
Implementation approaches and barriers for rule-based and machine learning-based sepsis risk prediction tools: a qualitative study
Objective Many options are currently available for sepsis surveillance clinical decision support
(CDS) from electronic medical record (EMR) vendors, third party, and homegrown models …
(CDS) from electronic medical record (EMR) vendors, third party, and homegrown models …
Current and future applications of artificial intelligence in cardiac CT
Purpose of Review In this review, we aim to summarize state-of-the-art artificial intelligence (AI)
approaches applied to cardiovascular CT and their future implications. Recent Findings …
approaches applied to cardiovascular CT and their future implications. Recent Findings …
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
Mutations in SCN2A gene cause a variety of epilepsy syndromes. We report a novel SCN2A
‐associated epilepsy phenotype in monozygotic twins with tonic seizures soon after birth …
‐associated epilepsy phenotype in monozygotic twins with tonic seizures soon after birth …
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia
M Joshi, J Eagan, NK Desai, SA Newton… - European Journal of …, 2014 - nature.com
The constellation of clinico-pathological and laboratory findings including massive hepatomegaly,
steatosis, and marked hypertriglyceridemia in infancy is extremely rare. We describe a …
steatosis, and marked hypertriglyceridemia in infancy is extremely rare. We describe a …
Digilocker (digital locker-ambitious aspect of digital india programme.)
P Petare, P Mohite, M Joshi - GE-International Journal of …, 2015 - papers.ssrn.com
Digital Technologies which include Cloud Computing and Mobile Applications have emerged
as catalysts for rapid economic growth and citizen empowerment across the globe. Digital …
as catalysts for rapid economic growth and citizen empowerment across the globe. Digital …
Determining the drivers of academic success in surgery: an analysis of 3,850 faculty
…, TA Zimmers, BJ Kim, C Blanton, MM Joshi… - PloS one, 2015 - journals.plos.org
Objective Determine drivers of academic productivity within US departments of surgery.
Methods Eighty academic metrics for 3,850 faculty at the top 50 NIH-funded university- and 5 …
Methods Eighty academic metrics for 3,850 faculty at the top 50 NIH-funded university- and 5 …
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease
We describe a large Lebanese family with two affected members, a young female proband
and her male cousin, who had multisystem involvement including profound global …
and her male cousin, who had multisystem involvement including profound global …