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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. Among authors: vasco g. 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
Visual development in infants with prenatal post-haemorrhagic ventricular dilatation.
Ricci D, Luciano R, Baranello G, Veredice C, Cesarini L, Bianco F, Pane M, Gallini F, Vasco G, Savarese I, Zuppa AA, Masini L, Di Rocco C, Romagnoli C, Guzzetta F, Mercuri E. Ricci D, et al. Among authors: vasco g. Arch Dis Child Fetal Neonatal Ed. 2007 Jul;92(4):F255-8. doi: 10.1136/adc.2006.101485. Epub 2006 Dec 1. Arch Dis Child Fetal Neonatal Ed. 2007. PMID: 17142298 Free PMC article.
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: vasco g. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.
Pane M, Lombardo ME, Alfieri P, D'Amico A, Bianco F, Vasco G, Piccini G, Mallardi M, Romeo DM, Ricotti V, Ferlini A, Gualandi F, Vicari S, Bertini E, Berardinelli A, Mercuri E. Pane M, et al. Among authors: vasco g. J Pediatr. 2012 Oct;161(4):705-9.e1. doi: 10.1016/j.jpeds.2012.03.020. Epub 2012 May 5. J Pediatr. 2012. PMID: 22560791
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
Marangi G, Ricciardi S, Orteschi D, Tenconi R, Monica MD, Scarano G, Battaglia D, Lettori D, Vasco G, Zollino M. Marangi G, et al. Among authors: vasco g. Am J Med Genet A. 2012 Jul;158A(7):1604-11. doi: 10.1002/ajmg.a.35419. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678594
Serum uric acid in Friedreich Ataxia.
Schirinzi T, Vasco G, Zanni G, Petrillo S, Piemonte F, Castelli E, Bertini ES. Schirinzi T, et al. Among authors: vasco g. Clin Biochem. 2018 Apr;54:139-141. doi: 10.1016/j.clinbiochem.2018.01.022. Epub 2018 Feb 2. Clin Biochem. 2018. PMID: 29409831
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