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2018 4
2019 5
2020 2
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Page 1
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Schirinzi T, Graziola F, Nicita F, Travaglini L, Stregapede F, Valeriani M, Curatolo P, Bertini E, Vigevano F, Capuano A. Schirinzi T, et al. Among authors: Stregapede F. Cerebellum. 2018 Aug;17(4):489-493. doi: 10.1007/s12311-018-0920-y. Cerebellum. 2018. PMID: 29397530
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F. Travaglini L, et al. Among authors: Stregapede F. Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24. Neurogenetics. 2018. PMID: 29691679
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
Graziola F, Stregapede F, Travaglini L, Garone G, Verardo M, Bosco L, Pro S, Bertini E, Curatolo P, Vigevano F, Capuano A. Graziola F, et al. Among authors: Stregapede F. Parkinsonism Relat Disord. 2019 Apr;61:4-6. doi: 10.1016/j.parkreldis.2018.12.001. Epub 2018 Dec 7. Parkinsonism Relat Disord. 2019. PMID: 30579817 No abstract available.
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
Graziola F, Garone G, Stregapede F, Bosco L, Vigevano F, Curatolo P, Bertini E, Travaglini L, Capuano A. Graziola F, et al. Among authors: Stregapede F. Front Genet. 2019 Oct 29;10:1026. doi: 10.3389/fgene.2019.01026. eCollection 2019. Front Genet. 2019. PMID: 31737037 Free PMC article.
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.
Nicita F, Schirinzi T, Stregapede F, Vasco G, Bertini E, Travaglini L. Nicita F, et al. Among authors: Stregapede F. Eur J Paediatr Neurol. 2019 Mar;23(2):329-332. doi: 10.1016/j.ejpn.2018.12.004. Epub 2018 Dec 18. Eur J Paediatr Neurol. 2019. PMID: 30616884
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Garone G, Capuano A, Travaglini L, Graziola F, Stregapede F, Zanni G, Vigevano F, Bertini E, Nicita F. Garone G, et al. Among authors: Stregapede F. Int J Mol Sci. 2020 May 20;21(10):3603. doi: 10.3390/ijms21103603. Int J Mol Sci. 2020. PMID: 32443735 Free PMC article. Review.
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
Nicita F, Stregapede F, Tessa A, Bassi MT, Jezela-Stanek A, Primiano G, Pizzuti A, Barghigiani M, Nardella M, Zanni G, Servidei S, Astrea G, Panzeri E, Maghini C, Losito L, Ploski R, Gasperowicz P, Santorelli FM, Bertini E, Travaglini L. Nicita F, et al. Among authors: Stregapede F. J Neurol. 2019 Nov;266(11):2657-2664. doi: 10.1007/s00415-019-09466-y. Epub 2019 Jul 13. J Neurol. 2019. PMID: 31302745