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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.
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.
Carnitine transport and fatty acid oxidation.
Longo N, Frigeni M, Pasquali M. Longo N, et al. Among authors: pasquali m. Biochim Biophys Acta. 2016 Oct;1863(10):2422-35. doi: 10.1016/j.bbamcr.2016.01.023. Epub 2016 Jan 29. Biochim Biophys Acta. 2016. PMID: 26828774 Free PMC article. Review.
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.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group. Zastrow DB, et al. Among authors: pasquali m. Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649. Hum Mutat. 2018. PMID: 30311390 Free PMC article.
493 results