Pankaj B Agrawal

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
    Pankaj B Agrawal
    Division of Genetics and Genomics, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Division of Newborn Medicine, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Manton Center for Orphan Disease Research, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Electronic address
    Am J Hum Genet 95:218-26. 2014
  2. doi request reprint Health care failure mode and effect analysis to reduce NICU line-associated bloodstream infections
    Celeste J Chandonnet
    Children s Hospital, Boston, MA 02115, USA
    Pediatrics 131:e1961-9. 2013
  3. pmc Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance
    Pankaj B Agrawal
    Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Boston, MA 02115, USA
    Hum Mol Genet 21:2341-56. 2012
  4. pmc Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
    Christopher R Pierson
    Department of Pathology, Division of Neuropathology, Children s Hospital Boston and Brigham, 300 Longwood Avenue, Boston, MA 02115, USA
    Neuromuscul Disord 17:562-8. 2007
  5. pmc Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
    Marlin Touma
    Division of Newborn Medicine, Boston Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    Epilepsia 54:e81-5. 2013

Research Grants

Collaborators

Detail Information

Publications5

  1. ncbi request reprint SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
    Pankaj B Agrawal
    Division of Genetics and Genomics, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Division of Newborn Medicine, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Manton Center for Orphan Disease Research, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Electronic address
    Am J Hum Genet 95:218-26. 2014
    ..SPEG is present in cardiac muscle, where it plays a critical role; therefore, individuals with SPEG mutations additionally present with dilated cardiomyopathy. ..
  2. doi request reprint Health care failure mode and effect analysis to reduce NICU line-associated bloodstream infections
    Celeste J Chandonnet
    Children s Hospital, Boston, MA 02115, USA
    Pediatrics 131:e1961-9. 2013
    ..We sought to reduce risks for CLABSIs using health care failure mode and effect analysis (HFMEA) by analyzing central line insertion, maintenance, and removal practices...
  3. pmc Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance
    Pankaj B Agrawal
    Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Boston, MA 02115, USA
    Hum Mol Genet 21:2341-56. 2012
    ..Overall, cofilin-2, although not critical for muscle development, is essential for muscle maintenance...
  4. pmc Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
    Christopher R Pierson
    Department of Pathology, Division of Neuropathology, Children s Hospital Boston and Brigham, 300 Longwood Avenue, Boston, MA 02115, USA
    Neuromuscul Disord 17:562-8. 2007
    ..Failure to attain and/or maintain myofiber size, along with fiber type perturbations and the misplacement of myofiber nuclei and other organelles, are important components of XLMTM muscle pathology...
  5. pmc Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
    Marlin Touma
    Division of Newborn Medicine, Boston Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    Epilepsia 54:e81-5. 2013
    ..In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin...

Research Grants2

  1. Cofilin-2: Molecular Function and it's Role in Myopathies
    Pankaj Agrawal; Fiscal Year: 2007
    ..My sponsor Dr Beggs, collaborators/advisors Dr Darras, Dr Dormitzer, Dr Kohane, Dr Kunkel and Dr Maciver, and my Neonatology Division Chief Dr Kourembanas will help me in this process. ..