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Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G. Nicita F, et al. J Med Genet. 2021 Jul;58(7):475-483. doi: 10.1136/jmedgenet-2020-107007. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737135
ATP1A3-related epileptic encephalopathy responding to ketogenic diet.
Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. Schirinzi T, et al. Among authors: nicita f. Brain Dev. 2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1. Brain Dev. 2018. PMID: 29395663
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
Coarelli G, Romano S, Travaglini L, Ferraldeschi M, Nicita F, Spadaro M, Fornasiero A, Frontali M, Salvetti M, Bertini E, Ristori G. Coarelli G, et al. Among authors: nicita f. Clin Neurol Neurosurg. 2018 May;168:60-63. doi: 10.1016/j.clineuro.2018.02.042. Epub 2018 Mar 3. Clin Neurol Neurosurg. 2018. PMID: 29524657
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: nicita f. Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24. Neurogenetics. 2018. PMID: 29691679
129 results