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Metabolic epilepsy: an update.

Papetti L, Parisi P, Leuzzi V, Nardecchia F, Nicita F, Ursitti F, Marra F, Paolino MC, Spalice A. Papetti L, et al. Among authors: nardecchia f. Brain Dev. 2013 Oct;35(9):827-41. doi: 10.1016/j.braindev.2012.11.010. Epub 2012 Dec 27. Brain Dev. 2013. PMID: 23273990 Review.

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Parkinsonism in children: Clinical classification and etiological spectrum.

Leuzzi V, Nardecchia F, Pons R, Galosi S. Leuzzi V, et al. Among authors: nardecchia f. Parkinsonism Relat Disord. 2021 Jan;82:150-157. doi: 10.1016/j.parkreldis.2020.10.002. Epub 2020 Oct 21. Parkinsonism Relat Disord. 2021. PMID: 33109474 Review.

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Erythrocyte-mediated delivery of recombinant enzymes.

Leuzzi V, Rossi L, Gabucci C, Nardecchia F, Magnani M. Leuzzi V, et al. Among authors: nardecchia f. J Inherit Metab Dis. 2016 Jul;39(4):519-30. doi: 10.1007/s10545-016-9926-0. Epub 2016 Mar 30. J Inherit Metab Dis. 2016. PMID: 27026098 Review.

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Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Among authors: nardecchia f. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154

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Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.

Rossi L, Nardecchia F, Pierigè F, Ventura R, Carducci C, Leuzzi V, Magnani M, Cabib S, Pascucci T. Rossi L, et al. Among authors: nardecchia f. Genes (Basel). 2021 Aug 2;12(8):1201. doi: 10.3390/genes12081201. Genes (Basel). 2021. PMID: 34440375 Free PMC article. Review.

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Clinical characterization of tremor in patients with phenylketonuria.

Nardecchia F, Manti F, De Leo S, Carducci C, Leuzzi V. Nardecchia F, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):53-56. doi: 10.1016/j.ymgme.2019.05.017. Epub 2019 Jun 3. Mol Genet Metab. 2019. PMID: 31208951

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Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.

Galosi S, Nardecchia F, Leuzzi V. Galosi S, et al. Among authors: nardecchia f. Mov Disord Clin Pract. 2020 Feb 4;7(2):154-166. doi: 10.1002/mdc3.12897. eCollection 2020 Feb. Mov Disord Clin Pract. 2020. PMID: 32071932 Free PMC article. Review.

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Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.

Nardecchia F, De Giorgi A, Palombo F, Fiorini C, De Negri AM, Carelli V, Caporali L, Leuzzi V. Nardecchia F, et al. Ann Clin Transl Neurol. 2021 Jan;8(1):247-251. doi: 10.1002/acn3.51232. Epub 2020 Dec 7. Ann Clin Transl Neurol. 2021. PMID: 33285023 Free PMC article.

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Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.

Pollini L, Galosi S, Nardecchia F, Musacchia F, Castello R, Nigro V, Leuzzi V. Pollini L, et al. Among authors: nardecchia f. Mov Disord Clin Pract. 2019 Nov 21;7(1):118-119. doi: 10.1002/mdc3.12865. eCollection 2020 Jan. Mov Disord Clin Pract. 2019. PMID: 31970230 Free PMC article. No abstract available.

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Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines.

Leuzzi V, Chiarotti F, Nardecchia F, van Vliet D, van Spronsen FJ. Leuzzi V, et al. Among authors: nardecchia f. J Med Genet. 2020 Mar;57(3):145-150. doi: 10.1136/jmedgenet-2019-106278. Epub 2019 Sep 4. J Med Genet. 2020. PMID: 31484718 Review.

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