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Page 1
Genetic Testing in Parkinson's Disease.
Pal G, Cook L, Schulze J, Verbrugge J, Alcalay RN, Merello M, Sue CM, Bardien S, Bonifati V, Chung SJ, Foroud T, Gatto E, Hall A, Hattori N, Lynch T, Marder K, Mascalzoni D, Novaković I, Thaler A, Raymond D, Salari M, Shalash A, Suchowersky O, Mencacci NE, Simuni T, Saunders-Pullman R, Klein C. Pal G, et al. Among authors: mascalzoni d. Mov Disord. 2023 Aug;38(8):1384-1396. doi: 10.1002/mds.29500. Epub 2023 Jun 27. Mov Disord. 2023. PMID: 37365908 Free PMC article.
International Charter of principles for sharing bio-specimens and data.
Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M. Mascalzoni D, et al. Eur J Hum Genet. 2016 Jul;24(7):1096. doi: 10.1038/ejhg.2015.237. Eur J Hum Genet. 2016. PMID: 27307116 Free PMC article. No abstract available.
Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls.
Prasuhn J, Borsche M, Hicks AA, Gögele M, Egger C, Kritzinger C, Pichler I, Castelo-Rueda MP, Langlott L, Kasten M, Mascalzoni D, Klein C, Pramstaller PP, Brüggemann N. Prasuhn J, et al. Among authors: mascalzoni d. Parkinsonism Relat Disord. 2021 May;86:101-104. doi: 10.1016/j.parkreldis.2021.03.028. Epub 2021 Apr 20. Parkinsonism Relat Disord. 2021. PMID: 33895538
The commercial genetic testing landscape for Parkinson's disease.
Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN; ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease; Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors. Cook L, et al. Parkinsonism Relat Disord. 2021 Nov;92:107-111. doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19. Parkinsonism Relat Disord. 2021. PMID: 34696975 Free PMC article.
International Genetic Testing and Counseling Practices for Parkinson's Disease.
Saunders-Pullman R, Raymond D, Ortega RA, Shalash A, Gatto E, Salari M, Markgraf M, Alcalay RN, Mascalzoni D, Mencacci NE, Bonifati V, Merello M, Chung SJ, Novakovic I, Bardien S, Pal G, Hall A, Hattori N, Lynch T, Thaler A, Sue CM, Foroud T, Verbrugge J, Schulze J, Cook L, Marder K, Suchowersky O, Klein C, Simuni T. Saunders-Pullman R, et al. Among authors: mascalzoni d. Mov Disord. 2023 Aug;38(8):1527-1535. doi: 10.1002/mds.29442. Epub 2023 Jun 13. Mov Disord. 2023. PMID: 37310233
Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?
Budin-Ljøsne I, Mascalzoni D, Soini S, Machado H, Kaye J, Bentzen HB, Rial-Sebbag E, D'Abramo F, Witt M, Schamps G, Katić V, Krajnovic D, Harris JR. Budin-Ljøsne I, et al. Among authors: d abramo f, mascalzoni d. Biopreserv Biobank. 2016 Jun;14(3):241-8. doi: 10.1089/bio.2015.0115. Epub 2016 Apr 15. Biopreserv Biobank. 2016. PMID: 27082461 Free PMC article.
Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol.
Pattaro C, Barbieri G, Foco L, Weichenberger CX, Biasiotto R, De Grandi A, Fuchsberger C, Egger C, Amon VSC, Hicks AA, Mian M, Mahlknecht A, Lombardo S, Meier H, Weiss H, Rainer R, Dejaco C, Weiss G, Lavezzo E, Crisanti A, Pizzato M, Domingues FS, Mascalzoni D, Gögele M, Melotti R, Pramstaller PP. Pattaro C, et al. Among authors: mascalzoni d. Pathog Glob Health. 2022 Mar;116(2):128-136. doi: 10.1080/20477724.2021.1978225. Epub 2021 Oct 12. Pathog Glob Health. 2022. PMID: 34637685 Free PMC article.
65 results