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Distribution, type, and origin of Parkin mutations: review and case studies.
Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Hedrich K, et al. Among authors: martinelli p. Mov Disord. 2004 Oct;19(10):1146-57. doi: 10.1002/mds.20234. Mov Disord. 2004. PMID: 15390068 Review.
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. Klein C, et al. Among authors: martinelli p. Eur J Hum Genet. 2005 Sep;13(9):1086-93. doi: 10.1038/sj.ejhg.5201455. Eur J Hum Genet. 2005. PMID: 15970950
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
The R98Q variation in DJ-1 represents a rare polymorphism.
Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman SB, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. Hedrich K, et al. Among authors: martinelli p. Ann Neurol. 2004 Jan;55(1):145; author reply 145-6. doi: 10.1002/ana.10816. Ann Neurol. 2004. PMID: 14705128 No abstract available.
Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism.
Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbruzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZK, Zühlke C, Klein C. Kock N, et al. Among authors: martinelli p. Ann Neurol. 2002 Aug;52(2):257-8; author reply 258. doi: 10.1002/ana.10270. Ann Neurol. 2002. PMID: 12210804 No abstract available.
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
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.
570 results