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Page 1
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group. Marongiu R, et al. Among authors: ferraris a. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.
Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.
Ferraris A, Ialongo T, Passali GC, Pellecchia MT, Brusa L, Laruffa M, Guidubaldi A, Paludetti G, Albanese A, Barone P, Dallapiccola B, Valente EM, Bentivoglio AR. Ferraris A, et al. Mov Disord. 2009 Dec 15;24(16):2350-7. doi: 10.1002/mds.22816. Mov Disord. 2009. PMID: 19890973
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: ferraris a. Mov Disord. 2009 Dec 15;24(16):2424-7. doi: 10.1002/mds.22861. Mov Disord. 2009. PMID: 19908325
Genetic testing for paediatric neurological disorders.
Valente EM, Ferraris A, Dallapiccola B. Valente EM, et al. Among authors: ferraris a. Lancet Neurol. 2008 Dec;7(12):1113-26. doi: 10.1016/S1474-4422(08)70257-6. Lancet Neurol. 2008. PMID: 19007736 Review.
GIGYF2 variants are not associated with Parkinson's disease in Italy.
Bonetti M, Ferraris A, Petracca M, Bentivoglio AR, Dallapiccola B, Valente EM. Bonetti M, et al. Among authors: ferraris a. Mov Disord. 2009 Sep 15;24(12):1867-8; author reply 1868-9. doi: 10.1002/mds.22640. Mov Disord. 2009. PMID: 19562763 No abstract available.
PARK6 is a common cause of familial parkinsonism.
Valente EM, Brancati F, Caputo V, Graham EA, Davis MB, Ferraris A, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, 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: ferraris a. Neurol Sci. 2002 Sep;23 Suppl 2:S117-8. doi: 10.1007/s100720200097. Neurol Sci. 2002. PMID: 12548371
276 results