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978 results

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Page 1
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. Among authors: dallapiccola b. Mov Disord. 2009 Dec 15;24(16):2350-7. doi: 10.1002/mds.22816. Mov Disord. 2009. PMID: 19890973
PINK1 mutations are associated with sporadic early-onset parkinsonism.
Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR. Valente EM, et al. Among authors: dallapiccola b. Ann Neurol. 2004 Sep;56(3):336-41. doi: 10.1002/ana.20256. Ann Neurol. 2004. PMID: 15349860
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
Marongiu R, Ghezzi D, Ialongo T, Soleti F, Elia A, Cavone S, Albanese A, Altavista MC, Barone P, Brusa L, Cortelli P, Petrozzi L, Scaglione C, Stanzione P, Tinazzi M, Zeviani M, Dallapiccola B, Bentivoglio AR, Valente EM, Garavaglia B; Italian PD Study Group. Marongiu R, et al. Among authors: dallapiccola b. Mov Disord. 2006 Aug;21(8):1232-5. doi: 10.1002/mds.20890. Mov Disord. 2006. PMID: 16622859
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: dallapiccola b. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.
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: dallapiccola b. Mov Disord. 2009 Dec 15;24(16):2424-7. doi: 10.1002/mds.22861. Mov Disord. 2009. PMID: 19908325
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Valente EM, et al. Among authors: dallapiccola b. Science. 2004 May 21;304(5674):1158-60. doi: 10.1126/science.1096284. Epub 2004 Apr 15. Science. 2004. PMID: 15087508
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: dallapiccola b. Mov Disord. 2005 Jan;20(1):81-6. doi: 10.1002/mds.20267. Mov Disord. 2005. PMID: 15390042
978 results