Nardecchia F - Search Results

1

Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.

Nardecchia F, Carrozzo R, Innocenti A, Torraco A, Zaccaria V, Rizza T, Pisani F, Bertini E, Leuzzi V. Nardecchia F, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):819-825. doi: 10.1002/acn3.51980. Epub 2024 Feb 7. Ann Clin Transl Neurol. 2024. PMID: 38327089 Free PMC article.

2

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.

3

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ₁₀ deficiency in muscle or skin fibroblasts.

Mero S, Salviati L, Leuzzi V, Rubegni A, Calderan C, Nardecchia F, Galatolo D, Desbats MA, Naef V, Gemignani F, Novelli M, Tessa A, Battini R, Santorelli FM, Marchese M. Mero S, et al. Among authors: nardecchia f. J Neurol. 2021 Sep;268(9):3381-3389. doi: 10.1007/s00415-021-10509-6. Epub 2021 Mar 11. J Neurol. 2021. PMID: 33704555

4

Looking back at the neonatal period in early-treated phenylketonuric patients.

Leuzzi V, Nardecchia F. Leuzzi V, et al. Among authors: nardecchia f. Pediatr Res. 2022 Mar;91(4):730-732. doi: 10.1038/s41390-022-01937-9. Epub 2022 Jan 20. Pediatr Res. 2022. PMID: 35058603 No abstract available.

5

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.

6

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration.

Nasca A, Nardecchia F, Commone A, Semeraro M, Legati A, Garavaglia B, Ghezzi D, Leuzzi V. Nasca A, et al. Among authors: nardecchia f. Front Genet. 2018 Dec 7;9:625. doi: 10.3389/fgene.2018.00625. eCollection 2018. Front Genet. 2018. PMID: 30581454 Free PMC article.

7

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.

8

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.

9

Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review.

De Giorgi A, Nardecchia F, Manti F, Campistol J, Leuzzi V. De Giorgi A, et al. Among authors: nardecchia f. Mol Genet Metab. 2023 Jun;139(2):107588. doi: 10.1016/j.ymgme.2023.107588. Epub 2023 Apr 25. Mol Genet Metab. 2023. PMID: 37149991 Review.

10

Metabolic control and clinical outcome in adolescents with phenylketonuria.

De Giorgi A, Nardecchia F, Romani C, Leuzzi V. De Giorgi A, et al. Among authors: nardecchia f. Mol Genet Metab. 2023 Nov;140(3):107684. doi: 10.1016/j.ymgme.2023.107684. Epub 2023 Aug 12. Mol Genet Metab. 2023. PMID: 37672857

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