Joshi M - Search Results

1

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.

Sankaran VG, Joshi M, Agrawal A, Schmitz-Abe K, Towne MC, Marinakis N, Markianos K, Berry GT, Agrawal PB. Sankaran VG, et al. Among authors: joshi m. Blood. 2013 Nov 28;122(23):3845-7. doi: 10.1182/blood-2013-09-528315. Blood. 2013. PMID: 24288412 Free article. No abstract available.

2

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH. Agrawal PB, et al. Among authors: joshi m. JAMA Neurol. 2014 Nov;71(11):1413-20. doi: 10.1001/jamaneurol.2014.1432. JAMA Neurol. 2014. PMID: 25264603 Free PMC article.

3

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.

Touma M, Joshi M, Connolly MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB. Touma M, et al. Among authors: joshi m. Epilepsia. 2013 May;54(5):e81-5. doi: 10.1111/epi.12137. Epub 2013 Mar 28. Epilepsia. 2013. PMID: 23550958 Free PMC article.

4

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

Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. Joshi M, et al. Eur J Hum Genet. 2014 Oct;22(10):1229-32. doi: 10.1038/ejhg.2014.8. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549054 Free PMC article.

5

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. Joshi M, et al. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148589 Free PMC article.

6

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.

Leeman KT, Dobson L, Towne M, Dukhovny D, Joshi M, Stoler J, Agrawal PB. Leeman KT, et al. Among authors: joshi m. J Perinatol. 2014 May;34(5):410-1. doi: 10.1038/jp.2014.20. J Perinatol. 2014. PMID: 24776604

7

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.

Rosen SM, Joshi M, Hitt T, Beggs AH, Agrawal PB. Rosen SM, et al. Among authors: joshi m. Hum Mol Genet. 2020 Jul 29;29(12):1996-2003. doi: 10.1093/hmg/ddaa035. Hum Mol Genet. 2020. PMID: 32160286 Free PMC article.

8

Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Morton SU, et al. Among authors: joshi m. PLoS One. 2015 Apr 13;10(4):e0123829. doi: 10.1371/journal.pone.0123829. eCollection 2015. PLoS One. 2015. PMID: 25874796 Free PMC article.

9

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

Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. Agrawal PB, et al. Among authors: joshi m. Hum Mol Genet. 2012 May 15;21(10):2341-56. doi: 10.1093/hmg/dds053. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343409 Free PMC article.

10

Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathy.

Subramanian K, Gianni D, Balla C, Assenza GE, Joshi M, Semigran MJ, Macgillivray TE, Van Eyk JE, Agnetti G, Paolocci N, Bamburg JR, Agrawal PB, Del Monte F. Subramanian K, et al. Among authors: joshi m. J Am Coll Cardiol. 2015 Mar 31;65(12):1199-1214. doi: 10.1016/j.jacc.2015.01.031. J Am Coll Cardiol. 2015. PMID: 25814227 Free PMC article.

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