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PARK6-linked parkinsonism occurs in several European families.
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Among authors: brancati f. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979
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
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.
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.
542 results