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SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: vasco g. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
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
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: vasco g. Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24. Neurogenetics. 2018. PMID: 29691679
A clinical diagnostic algorithm for early onset cerebellar ataxia.
Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA. Brandsma R, et al. Among authors: vasco g. Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Eur J Paediatr Neurol. 2019. PMID: 31481303 Review.
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Among authors: vasco g. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 Review.
91 results