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Page 1
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Yau WY, Vandrovcova J, Sullivan R, Chen Z, Zecchinelli A, Cilia R, Duga S, Murray M, Carmona S; Genomics England Research Consortium; Chelban V, Ishiura H, Tsuji S, Jaunmuktane Z, Turner C, Wood NW, Houlden H. Yau WY, et al. Among authors: duga s. Mov Disord. 2021 Jan;36(1):251-255. doi: 10.1002/mds.28302. Epub 2020 Oct 7. Mov Disord. 2021. PMID: 33026126 Free PMC article.
LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population.
Cilia R, Siri C, Rusconi D, Allegra R, Ghiglietti A, Sacilotto G, Zini M, Zecchinelli AL, Asselta R, Duga S, Paganoni AM, Pezzoli G, Seia M, Goldwurm S. Cilia R, et al. Among authors: duga s. Parkinsonism Relat Disord. 2014 Aug;20(8):911-4. doi: 10.1016/j.parkreldis.2014.04.016. Epub 2014 Apr 25. Parkinsonism Relat Disord. 2014. PMID: 24816003 Free PMC article.
Glucocerebrosidase mutations in primary parkinsonism.
Asselta R, Rimoldi V, Siri C, Cilia R, Guella I, Tesei S, Soldà G, Pezzoli G, Duga S, Goldwurm S. Asselta R, et al. Among authors: duga s. Parkinsonism Relat Disord. 2014 Nov;20(11):1215-20. doi: 10.1016/j.parkreldis.2014.09.003. Epub 2014 Sep 9. Parkinsonism Relat Disord. 2014. PMID: 25249066 Free PMC article.
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.
Cilia R, Tunesi S, Marotta G, Cereda E, Siri C, Tesei S, Zecchinelli AL, Canesi M, Mariani CB, Meucci N, Sacilotto G, Zini M, Barichella M, Magnani C, Duga S, Asselta R, Soldà G, Seresini A, Seia M, Pezzoli G, Goldwurm S. Cilia R, et al. Among authors: duga s. Ann Neurol. 2016 Nov;80(5):662-673. doi: 10.1002/ana.24777. Epub 2016 Oct 3. Ann Neurol. 2016. PMID: 27632223
DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S. Straniero L, et al. Among authors: duga s. Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11. Ann Neurol. 2017. PMID: 28892570
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.
Straniero L, Asselta R, Bonvegna S, Rimoldi V, Melistaccio G, Soldà G, Aureli M, Della Porta M, Lucca U, Di Fonzo A, Zecchinelli A, Pezzoli G, Cilia R, Duga S. Straniero L, et al. Among authors: duga s. Neurol Genet. 2020 Oct 20;6(6):e523. doi: 10.1212/NXG.0000000000000523. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33209983 Free PMC article.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
Screening of LRP10 mutations in Parkinson's disease patients from Italy.
Manini A, Straniero L, Monfrini E, Percetti M, Vizziello M, Franco G, Rimoldi V, Zecchinelli A, Pezzoli G, Corti S, Comi GP, Duga S, Di Fonzo A. Manini A, et al. Among authors: duga s. Parkinsonism Relat Disord. 2021 Aug;89:17-21. doi: 10.1016/j.parkreldis.2021.06.014. Epub 2021 Jun 19. Parkinsonism Relat Disord. 2021. PMID: 34216936
187 results