Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy

Por Pierson, Christopher R., Agrawal, Pankaj B., Blasko, Jessica, Beggs, Alan H.
Publicado em 2007

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

Por Agrawal, Pankaj B., Joshi, Mugdha, Savic, Talia, Chen, Zoe, Beggs, Alan H.
Publicado em 2012

Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration

Por Morton, Sarah U., Joshi, Mugdha, Savic, Talia, Beggs, Alan H., Agrawal, Pankaj B.
Publicado no PLoS One (2015)

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara Syndrome and unique neuropathological findings

Por Touma, Marlin, Joshi, Mugdha, Connolly, Meghan C., Grant, P. Ellen, Hansen, Anne R., Khwaja, Omar, Berry, Gerard T., Kinney, Hannah C., Poduri, Annapurna, Agrawal, Pankaj B.
Publicado em 2013

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia

Por Lacy, Jessica N., Ulirsch, Jacob C., Grace, Rachael F., Towne, Meghan C., Hale, John, Mohandas, Narla, Lux, Samuel E., Agrawal, Pankaj B., Sankaran, Vijay G.
Publicado no Cold Spring Harb Mol Case Stud (2016)

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures

Por Palmer, Samantha, Towne, Meghan C., Pearl, Phillip L., Pelletier, Renee C., Genetti, Casie A., Shi, Jiahai, Beggs, Alan H., Agrawal, Pankaj B., Brownstein, Catherine A.
Publicado no Pediatr Neurol (2016)

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

Por Morton, Sarah U., Neilan, Edward G., Peake, Roy W. A., Shi, Jiahai, Schmitz-Abe, Klaus, Towne, Meghan, Markianos, Kyriacos, Prabhu, Sanjay P., Agrawal, Pankaj B.
Publicado no JIMD Rep (2016)

Long-Gap Esophageal Atresia is a Unique Entity within the Esophageal Atresia Defect Spectrum

Por Bairdain, Sigrid, Zurakowski, David, Vargas, Sara O., Stenquist, Nicole, McDonald, Molly, Towne, Meghan C., Miller, David T., Jennings, Russell W., Kantor, David B., Agrawal, Pankaj B.
Publicado no Neonatology (2016)

Expanding the Phenotype Associated With the NEFL Mutation Neuromuscular Disease in a Family with Overlapping Myopathic and Neurogenic Findings

Por Agrawal, Pankaj B., Joshi, Mugdha, Marinakis, Nicholas S., Schmitz-Abe, Klaus, Ciarlini, Pedro D. S. C., Sargent, Jane C., Markianos, Kyriacos, De Girolami, Umberto, Chad, David A., Beggs, Alan H.
Publicado no JAMA Neurol (2014)

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

Por Morton, Sarah U., Prabhu, Sanjay P., Lidov, Hart G.W., Shi, Jiahai, Anselm, Irina, Brownstein, Catherine A., Bainbridge, Matthew N., Beggs, Alan H., Vargas, Sara O., Agrawal, Pankaj B.
Publicado no Cold Spring Harb Mol Case Stud (2017)

Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy

Por Mehta, Paulomi, Küspert, Melanie, Bale, Tejus, Brownstein, Catherine A, Towne, Meghan C., De Girolami, Umberto, Shi, Jiahai, Beggs, Alan H., Darras, Basil T., Wegner, Michael, Piao, Xianhua, Agrawal, Pankaj B.
Publicado no Muscle Nerve (2017)

Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

Por Agrawal, Pankaj B., Greenleaf, Rebecca S., Tomczak, Kinga K., Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Wallefeld, William, Laing, Nigel G., Darras, Basil T., Maciver, Sutherland K., Dormitzer, Philip R., Beggs, Alan H.
Publicado em 2007

Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome

Por Thaker, Vidhu V., Esteves, Kristyn M., Towne, Meghan C., Brownstein, Catherine A., James, Philip M., Crowley, Laura, Hirschhorn, Joel N., Elsea, Sarah H., Beggs, Alan H., Picker, Jonathan, Agrawal, Pankaj B.
Publicado no J Clin Endocrinol Metab (2015)

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Por Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Pankaj B.
Publicado no Neurogenetics (2015)

A curated gene list for reporting results of newborn genomic sequencing

Por Ceyhan-Birsoy, Ozge, Machini, Kalotina, Lebo, Matthew S., Yu, Tim W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy, Green, Robert C., Beggs, Alan H., Rehm, Heidi L.
Publicado no Genet Med (2017)

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

Por Majczenko, Karen, Davidson, Ann E., Camelo-Piragua, Sandra, Agrawal, Pankaj B., Manfready, Richard A., Li, Xingli, Joshi, Sucheta, Xu, Jishu, Peng, Weiping, Beggs, Alan H., Li, Jun Z., Burmeister, Margit, Dowling, James J.
Publicado em 2012

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

Por Brownstein, Catherine A., Towne, Meghan C., Luquette, Lovelace J., Harris, David J., Marinakis, Nicholas S., Meinecke, Peter, Kutsche, Kerstin, Campeau, Philippe M., Yu, Timothy W., Margulies, David M., Agrawal, Pankaj B., Beggs, Alan H.
Publicado em 2013

Cofilin-2 Phosphorylation and Sequestration In Myocardial Aggregates: Novel Pathogenetic Mechanisms For Idiopathic Dilated Cardiomyopathy

Por Subramanian, Khaushik, Gianni, Davide, Balla, Cristina, Assenza, Gabriele Egidy, Joshi, Mugdha, Semigran, Marc J., Macgillivray, Thomas E., Van Eyk, Jennifer E., Agnetti, Giulio, Paolocci, Nazareno, Bamburg, James R., Agrawal, Pankaj B., del Monte, Federica
Publicado no J Am Coll Cardiol (2015)

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

Por Joshi, Mugdha, Anselm, Irina, Shi, Jiahai, Bale, Tejus A., Towne, Meghan, Schmitz-Abe, Klaus, Crowley, Laura, Giani, Felix C., Kazerounian, Shideh, Markianos, Kyriacos, Lidov, Hart G., Folkerth, Rebecca, Sankaran, Vijay G., Agrawal, Pankaj B.
Publicado no Cold Spring Harb Mol Case Stud (2016)

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

Por Joshi, Mugdha, Eagan, Jacqueline, Desai, Nirav K, Newton, Stephanie A, Towne, Meghan C, Marinakis, Nicholas S, Esteves, Kristyn M, De Ferranti, Sarah, Bennett, Michael J, McIntyre, Adam, Beggs, Alan H, Berry, Gerard T, Agrawal, Pankaj B
Publicado em 2014