Agrawal PB - Search Results

1

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: agrawal pb. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.

2

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Agrawal PB, et al. Ann Neurol. 2004 Jul;56(1):86-96. doi: 10.1002/ana.20157. Ann Neurol. 2004. PMID: 15236405

3

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Agrawal PB, et al. Am J Hum Genet. 2007 Jan;80(1):162-7. doi: 10.1086/510402. Epub 2006 Nov 14. Am J Hum Genet. 2007. PMID: 17160903 Free PMC article.

4

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.

Pierson CR, Agrawal PB, Blasko J, Beggs AH. Pierson CR, et al. Among authors: agrawal pb. Neuromuscul Disord. 2007 Jul;17(7):562-8. doi: 10.1016/j.nmd.2007.03.010. Epub 2007 May 29. Neuromuscul Disord. 2007. PMID: 17537630 Free PMC article.

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.

Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. Agrawal PB, et al. 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.

6

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Majczenko K, et al. Among authors: agrawal pb. Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19. Am J Hum Genet. 2012. PMID: 22818856 Free PMC article.

7

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: agrawal pb. Epilepsia. 2013 May;54(5):e81-5. doi: 10.1111/epi.12137. Epub 2013 Mar 28. Epilepsia. 2013. PMID: 23550958 Free PMC article.

8

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Brownstein CA, et al. Among authors: agrawal pb. Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28. Eur J Med Genet. 2013. PMID: 24176758 Free PMC article.

9

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: agrawal a, agrawal pb. Blood. 2013 Nov 28;122(23):3845-7. doi: 10.1182/blood-2013-09-528315. Blood. 2013. PMID: 24288412 Free article. No abstract available.

10

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. Among authors: agrawal pb. 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.

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