Expanding the Phenotype Associated with NEFL Mutation: Neuromuscular Disease in a Family with Overlapping Myopathic and Neurogenic Findings
Pankaj B. Agrawal, Mugdha Joshi, Nicholas S. Marinakis, Klaus Schmitz-Abe, Pedro DSC Ciarlini, Jane C. Sargent, Kyriacos Markianos, Umberto De Girolami, David A. Chad..., Jamaneurol, 1/29/2014Cytoplasmic Glycerol-3-phosphate Dehydrogenase Deficiency Presents with Massive Hepatomegaly, Steatohepatitis and Hypertriglyceridemia in an Infant
Mugdha Joshi, Jacqueline Eagan, Nirav K. Desai, Stephanie A. Newton, Meghan C. Towne, Nicholas Marinakis, Kristyn M. Esteves, Sarah De Ferranti, Michael J. Bennett, Ad..., Eur J Hum Genet, 1/19/2014SPEG Interacts with Myotubularin (MTM1) And Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C. Swanson, Go..., Am J Hum Genet, 1/7/2014Neonatal Ciliopathy: A Rare Presentation of NPHP3 Mutation Leading to Multi-organ Polycystic Disease
Kristen T. Leeman, Lori Dobson, Dmitry Dukhovny, Joan Stoler, Pankaj B. Agrawal, J Perinatol, 1/1/2014Whole Genome Sequencing Identifies SCN2A Mutation in Monozygotic Twins with Ohtahara Syndrome and Unique Neuropathological Findings
Touma M, Joshi M, Connolly, MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB, Epilepsia, 1/1/2013Stimulating Erythropoeisis in Neonates
Vijay G. Sankaran and Pankaj B. Agrawal, American J of Hematology, 1/1/2013A Mutation in KCNJ8 Causes Cantu Syndrome- Support for Role of KATP Channels in This Condition
Brownstein CA, Connolly MC, Luquette LJ, Harris D, Kutsche K, Campeau P, Yu T, Margulies DM, Agrawal PB, Beggs AH, Euro J Med Genet, 1/1/2013Rare Complete Loss-of-function Provides Insight into a Pleiotropic Genome-wide Association Study Locus
Vijay G. Sankaran, Mugdha Joshi, Akshat Agrawal, Klaus Schmitz-Abe, Meghan C. Towne, Nicholas Marinakis, Kyriacos Markianos, Gerard T. Berry, Pankaj B. Agrawal, Blood, 1/1/2013Normal Myofibrillar Development Followed by Progressive Sarcomeric Disruption with Actin Accumulations in a Mouse Cfl2 Knockout Demonstrates Requirement of Cofilin-2 f...
Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH, Hum. Mol. Genet., 1/1/2012Congenital Myopathy Caused by a Novel Missense Mutation in the CFL2 Gene
Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NVAM, Lammens M, van Alfen N, Neuromusc Disorders, 1/1/2012Novel CHD7 and FBN1 Mutations in an Infant with Multiple Congenital Anamolies
Chiu CH, Thakuria J, Agrawal PB, Ind. J. Pediatr, 1/1/2010Nemaline 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 and Beggs AH, Am. J. of Hum. Genet, 1/1/2007Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy
Pierson CR, Agrawal PB, Blasko J, Beggs AH, Neuromuscul. Disord, 1/1/2007X-linked Myotubular and Centronuclear Myopathies
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH, J. Neuropathol. Exp. Neurol, 1/1/2005Heterogeneity of Nemaline Myopathy Cases with Skeletal Muscle A-actin Gene Mutations
Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH, Ann. Neurol, 1/1/2004Isolation Pattern and Clinical Outcome of Genital Mycoplasma in Neonates from a Tertiary Care Neonatal Unit
Sethi S. Sharma M. Narang A. Aggrawal PB, J. Trop. Pediatr, 1/1/1999Epidemiology of Systemic Candidiasis in a Tertiary Care Neonatal Unit
Narang A, Agrawal PB, Chakrabarti A, Kumar P, J. Trop. Pediatr, 1/1/1998Fluconazole in the Management of Neonatal Systemic Candidiasis
Narang A, Agrawal PB, Chakrabarti A, Kumar P, Ind. Pediatr, 1/1/1996Fluconazole
Agrawal PB, Narang A & Kumar P, Ind. J. Pediatr, 1/1/1996Host Factors and Pneumonia in Hospitalized Children
Agrawal PB. Shendurnikar N. Shastri NJ, JIMA, 1/1/1995- Join now to see all