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Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].
di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. di Salvo ML, et al. Among authors: leuzzi v. Mol Genet Metab. 2018 Dec;125(4):359. doi: 10.1016/j.ymgme.2018.02.017. Epub 2018 Mar 14. Mol Genet Metab. 2018. PMID: 29548777 No abstract available.
Screening of mtDNA mutations in Italian LHON pedigrees.
Carducci C, De Negri AM, Leuzzi V, Terregino C, Torella M, Pivetti Pezzi P, Antonozzi I. Carducci C, et al. Among authors: leuzzi v. J Inherit Metab Dis. 1996;19(2):127-9. doi: 10.1007/BF01799410. J Inherit Metab Dis. 1996. PMID: 8739946 No abstract available.
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. Torroni A, et al. Among authors: leuzzi v. Am J Hum Genet. 1997 May;60(5):1107-21. Am J Hum Genet. 1997. PMID: 9150158 Free PMC article.
288 results