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397 results
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Biochemical abnormalities in Pearson syndrome.
Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. Crippa BL, et al. Among authors: pasquali m. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939. Am J Med Genet A. 2015. PMID: 25691415
Bone resorption in syndromes of the Ras/MAPK pathway.
Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng HY, Greene T, Reinker K, Swensen J, Chan RJ, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali M. Stevenson DA, et al. Among authors: pasquali m. Clin Genet. 2011 Dec;80(6):566-73. doi: 10.1111/j.1399-0004.2010.01619.x. Epub 2011 Jan 19. Clin Genet. 2011. PMID: 21204800 Free PMC article.
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE. Mehta SG, et al. Among authors: pasquali m. Clin Genet. 2013 May;83(5):422-31. doi: 10.1111/cge.12000. Epub 2012 Oct 4. Clin Genet. 2013. PMID: 22909335 Free PMC article.
Functional and molecular studies in primary carnitine deficiency.
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N. Frigeni M, et al. Among authors: pasquali m. Hum Mutat. 2017 Dec;38(12):1684-1699. doi: 10.1002/humu.23315. Epub 2017 Sep 14. Hum Mutat. 2017. PMID: 28841266 Free PMC article.
Progressive cerebral vascular degeneration with mitochondrial encephalopathy.
Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM. Longo N, et al. Among authors: pasquali m. Am J Med Genet A. 2008 Feb 1;146A(3):361-7. doi: 10.1002/ajmg.a.31841. Am J Med Genet A. 2008. PMID: 18203188
Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N. Rose EC, et al. Among authors: pasquali m. Hum Mutat. 2012 Jan;33(1):118-23. doi: 10.1002/humu.21607. Epub 2011 Oct 11. Hum Mutat. 2012. PMID: 21922592 Free PMC article.
Disorders of creatine transport and metabolism.
Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M. Longo N, et al. Among authors: pasquali m. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):72-8. doi: 10.1002/ajmg.c.30292. Epub 2011 Feb 9. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308988
Disorders of carnitine transport and the carnitine cycle.
Longo N, Amat di San Filippo C, Pasquali M. Longo N, et al. Among authors: pasquali m. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):77-85. doi: 10.1002/ajmg.c.30087. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602102 Free PMC article. Review.
Glutaric acidemia type 1.
Hedlund GL, Longo N, Pasquali M. Hedlund GL, et al. Among authors: pasquali m. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602100 Free PMC article. Review.
Metabolic changes associated with hyperammonemia in patients with propionic acidemia.
Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N. Filipowicz HR, et al. Among authors: pasquali m. Mol Genet Metab. 2006 Jun;88(2):123-30. doi: 10.1016/j.ymgme.2005.11.016. Epub 2006 Jan 10. Mol Genet Metab. 2006. PMID: 16406646
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