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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: martinelli p. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MT, Stanzione P, Brusa L, Bentivoglio AR, Bonuccelli U, Petrozzi L, Abbruzzese G, Marchese R, Cortelli P, Grimaldi D, Martinelli P, Ferrarese C, Garavaglia B, Sangiorgi S, Carelli V, Torroni A, Albanese A, Zeviani M. Ghezzi D, et al. Among authors: martinelli p. Eur J Hum Genet. 2005 Jun;13(6):748-52. doi: 10.1038/sj.ejhg.5201425. Eur J Hum Genet. 2005. PMID: 15827561 Free article.
Essential tremor is not associated with alpha-synuclein gene haplotypes.
Pigullo S, Di Maria E, Marchese R, Bellone E, Gulli R, Scaglione C, Battaglia S, Barone P, Martinelli P, Abbruzzese G, Ajmar F, Mandich P. Pigullo S, et al. Among authors: martinelli p. Mov Disord. 2003 Jul;18(7):823-6. doi: 10.1002/mds.10421. Mov Disord. 2003. PMID: 12815663
Non-motor symptoms in atypical and secondary parkinsonism: the PRIAMO study.
Colosimo C, Morgante L, Antonini A, Barone P, Avarello TP, Bottacchi E, Cannas A, Ceravolo MG, Ceravolo R, Cicarelli G, Gaglio RM, Giglia L, Iemolo F, Manfredi M, Meco G, Nicoletti A, Pederzoli M, Petrone A, Pisani A, Pontieri FE, Quatrale R, Ramat S, Scala R, Volpe G, Zappulla S, Bentivoglio AR, Stocchi F, Trianni G, Del Dotto P, Simoni L, Marconi R; PRIAMO STUDY GROUP. Colosimo C, et al. J Neurol. 2010 Jan;257(1):5-14. doi: 10.1007/s00415-009-5255-7. Epub 2009 Aug 9. J Neurol. 2010. PMID: 19669613
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
Pigullo S, De Luca A, Barone P, Marchese R, Bellone E, Colosimo A, Scaglione C, Martinelli P, Di Maria E, Pizzuti A, Abbruzzese G, Dallapiccola B, Ajmar F, Mandich P. Pigullo S, et al. Among authors: martinelli p. Parkinsonism Relat Disord. 2004 Aug;10(6):357-62. doi: 10.1016/j.parkreldis.2004.04.012. Parkinsonism Relat Disord. 2004. PMID: 15261877
Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease.
Rizzo G, Martinelli P, Manners D, Scaglione C, Tonon C, Cortelli P, Malucelli E, Capellari S, Testa C, Parchi P, Montagna P, Barbiroli B, Lodi R. Rizzo G, et al. Among authors: martinelli p. Brain. 2008 Oct;131(Pt 10):2690-700. doi: 10.1093/brain/awn195. Epub 2008 Sep 26. Brain. 2008. PMID: 18819991
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?
La Morgia C, Barboni P, Rizzo G, Carbonelli M, Savini G, Scaglione C, Capellari S, Bonazza S, Giannoccaro MP, Calandra-Buonaura G, Liguori R, Cortelli P, Martinelli P, Baruzzi A, Carelli V. La Morgia C, et al. Among authors: martinelli p. Eur J Neurol. 2013 Jan;20(1):198-201. doi: 10.1111/j.1468-1331.2012.03701.x. Epub 2012 Mar 21. Eur J Neurol. 2013. PMID: 22436028
570 results