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Clinical and genetic analysis of lipid storage myopathies.
Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, López LC, Hirano M, Hayashi YK, Nonaka I, Nishino I. Ohkuma A, et al. Among authors: lopez lc. Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167. Muscle Nerve. 2009. PMID: 19208393 Free PMC article.
Human CoQ10 deficiencies.
Quinzii CM, López LC, Naini A, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: lopez lc. Biofactors. 2008;32(1-4):113-8. doi: 10.1002/biof.5520320113. Biofactors. 2008. PMID: 19096106 Free PMC article.
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M. Emmanuele V, et al. Among authors: lopez lc. Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Arch Neurol. 2012. PMID: 22490322 Free PMC article. Review.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. Lagier-Tourenne C, et al. Among authors: lopez lc. Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024. Am J Hum Genet. 2008. PMID: 18319074 Free PMC article.
166 results