Genomes and Genes
Pankaj B Agrawal
Affiliation: Harvard University
- SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyPankaj 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. ..
- Health care failure mode and effect analysis to reduce NICU line-associated bloodstream infectionsCeleste 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...
- Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenancePankaj 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...
- Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathyChristopher 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...
- Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findingsPankaj B Agrawal
Division of Genetics and Genomics, Boston Children s Hospital, Harvard Medical School, Boston, Massachusetts2Division of Newborn Medicine, Boston Children s Hospital, Harvard Medical School, Boston, Massachusetts3Manton Center for Orphan Disease Research
JAMA Neurol 71:1413-20. 2014..This approach may expand the phenotypic spectrum of disease associated with those genetic mutations...
- Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findingsMarlin 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...