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Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Saha M, et al. Among authors: estrella e. Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31. Physiol Genomics. 2018. PMID: 30345904 Free PMC article.
LGMD2I in a North American population.
Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM. Kang PB, et al. Among authors: estrella e. BMC Musculoskelet Disord. 2007 Nov 24;8:115. doi: 10.1186/1471-2474-8-115. BMC Musculoskelet Disord. 2007. PMID: 18036232 Free PMC article.
Congenital myasthenic syndrome with episodic apnea.
Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB. Mallory LA, et al. Among authors: estrella e. Pediatr Neurol. 2009 Jul;41(1):42-5. doi: 10.1016/j.pediatrneurol.2009.02.017. Pediatr Neurol. 2009. PMID: 19520274 Free PMC article.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: estrella ea. Neurogenetics. 2010 Oct;11(4):449-55. doi: 10.1007/s10048-010-0250-9. Epub 2010 Jul 13. Neurogenetics. 2010. PMID: 20623375 Free PMC article.
Regulation of DMD pathology by an ankyrin-encoded miRNA.
Alexander MS, Casar JC, Motohashi N, Myers JA, Eisenberg I, Gonzalez RT, Estrella EA, Kang PB, Kawahara G, Kunkel LM. Alexander MS, et al. Skelet Muscle. 2011 Aug 8;1:27. doi: 10.1186/2044-5040-1-27. Skelet Muscle. 2011. PMID: 21824387 Free PMC article.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: estrella ea. Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28. Neurogenetics. 2012. PMID: 22371254 Free PMC article.
MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation.
Alexander MS, Kawahara G, Motohashi N, Casar JC, Eisenberg I, Myers JA, Gasperini MJ, Estrella EA, Kho AT, Mitsuhashi S, Shapiro F, Kang PB, Kunkel LM. Alexander MS, et al. Among authors: estrella ea. Cell Death Differ. 2013 Sep;20(9):1194-208. doi: 10.1038/cdd.2013.62. Epub 2013 Jun 14. Cell Death Differ. 2013. PMID: 23764775 Free PMC article.
86 results