JacklynRPancrudoDO

PubMed

• 13 citations
  Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene
  Johan L.K. Van Hove, Cynthia Freehauf, Shelley D. Miyamoto, Georgirene D. Vladutiu, Jacklyn Pancrudo, Eduardo Bonilla, Mark A. Lovell, Gary W. Mierau, Janet A. Thomas,...> ;European Journal of Pediatrics. 2008 Jul 1
• 12 citations
  Mitochondrial myopathy associated with a novel mutation in mtDNA
  Jacklyn Pancrudo, Sara Shanske, Jorida Coku, Jiesheng Lu, Rebecca Mardach, Orhan H. Akman, Sindu Krishna, Eduardo Bonilla, Salvatore DiMauro> ;Neuromuscular Disorders. 2007 Aug 1
• 5 citations
  Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
  Jacklyn Pancrudo, Sara Shanske, Eduardo Bonilla, Mariza Daras, Hasan O. Akman, Sindu Krishna, Elfrida Malkin, Salvatore DiMauro> ;Journal of Child Neurology. 2007 Jul 1
• 32 citations
  New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
  Michelangelo Mancuso, S. Ferraris, Jacklyn Pancrudo, Annette Feigenbaum, Julian Raiman, John Christodoulou, David R. Thorburn, Salvatore DiMauro> ;Archives of Neurology. 2005 May 1
• 9 citations
  Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA
  Stacey K. H. Tay, Sara Shanske, Carol A. Crowe, Alan L. Shanske, Irwin A. Schafer, Jacklyn Pancrudo, Jiesheng Lu, Eduardo Bonilla, Salvatore DiMauro> ;Journal of Child Neurology. 2005 Feb 1
• 89 citations
  Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis
  Sara Shanske, Jacklyn Pancrudo, Petra Kaufmann, Kristin Engelstad, Sarah Jhung, Jiesheng Lu, Ali Naini, Salvatore DiMauro, Darryl C. De Vivo> ;American Journal of Medical Genetics. Part A. 2004 Oct 1
• 94 citations
  Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
  Massimiliano Filosto, Michelangelo Mancuso, Yutaka Nishigaki, Jacklyn Pancrudo, Yadollah Harati, Clifton L. Gooch, Ami Mankodi, Lydia L. Bayne, Eduardo Bonilla, Sara S...> ;Archives of Neurology. 2003 Sep 1
• 2 citations
  A 14-year-old male with asymptomatic proteinuria and hearing loss
  Samih H. Nasr, Howard Corey, Sara Shanske, Jacklyn Pancrudo, Petra Kaufmann, Glen S. Markowitz, Salvatore DiMauro, Vivette D. D'Agati> ;American Journal of Kidney Diseases. 2003 Jan 1
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