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The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP. Kojovic M, et al. Among authors: brancati f. Mov Disord. 2013 Jun;28(6):795-803. doi: 10.1002/mds.25394. Epub 2013 Feb 15. Mov Disord. 2013. PMID: 23418071
A novel family with an unusual early-onset generalized dystonia.
Fabbrini G, Brancati F, Vacca L, Valente EM, Nemeth A, Meesaq A, Sykes N, Dallapiccola B, Berardelli A. Fabbrini G, et al. Among authors: brancati f. Mov Disord. 2005 Jan;20(1):81-6. doi: 10.1002/mds.20267. Mov Disord. 2005. PMID: 15390042
Mutation screening of the DYT6/THAP1 gene in Italy.
Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, Valente EM. Bonetti M, et al. Among authors: brancati f. Mov Disord. 2009 Dec 15;24(16):2424-7. doi: 10.1002/mds.22861. Mov Disord. 2009. PMID: 19908325
Clinical utility gene card for: Joubert syndrome--update 2013.
Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Valente EM, et al. Among authors: brancati f. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.10. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403901 Free PMC article. No abstract available.
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
537 results