prikaz prve stranice dokumenta A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
  Download
PDF 416.05 KB
Scientific paper - Original scientific paper
A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
npj Parkinson's Disease, 8 (2022), 1; 149. https://doi.org/10.1038/s41531-022-00408-6
Kovanda, Anja; Rački, Valentino; Bergant, Gaber; Georgiev, Dejan; Flisar, Dušan; Papić, Eliša; Branković, Marija; Janković, Milena; Svetel, Marina; Teran, Nataša; Maver, Aleš; Kostić, Vladimir S.; Novaković, Ivana; Pirtošek, Zvezdan; Rakuša, Martin; Vuletić, Vladimira; Peterlin, Borut More authors...

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

Cite this document

Kovanda, A., Rački, V., Bergant, G., Georgiev, D., Flisar, D., Papić, E. ... Peterlin, B. (2022). A multicenter study of genetic testing for Parkinson’s disease in the clinical setting. npj Parkinson's Disease, 8. (1). doi: 10.1038/s41531-022-00408-6

Kovanda, Anja, et al. "A multicenter study of genetic testing for Parkinson’s disease in the clinical setting." npj Parkinson's Disease, vol. 8, no. 1, 2022. https://doi.org/10.1038/s41531-022-00408-6

Kovanda, Anja, Valentino Rački, Gaber Bergant, Dejan Georgiev, Dušan Flisar, Eliša Papić, Marija Branković, et al. "A multicenter study of genetic testing for Parkinson’s disease in the clinical setting." npj Parkinson's Disease 8, no. 1 (2022). https://doi.org/10.1038/s41531-022-00408-6

Kovanda, A., et al. (2022) 'A multicenter study of genetic testing for Parkinson’s disease in the clinical setting', npj Parkinson's Disease, 8(1). doi: 10.1038/s41531-022-00408-6

Kovanda A, Rački V, Bergant G, Georgiev D, Flisar D, Papić E, and sur.. A multicenter study of genetic testing for Parkinson’s disease in the clinical setting. npj Parkinson's Disease [Internet]. 2022 November 04 [cited 2024 May 11];8(1). doi: 10.1038/s41531-022-00408-6

A. Kovanda, et al., "A multicenter study of genetic testing for Parkinson’s disease in the clinical setting", npj Parkinson's Disease, vol. 8, no. 1, November 2022. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:569578. [Accessed: 11 May 2024]

Metadata
Title (english)A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
AuthorAnja Kovanda
AuthorValentino Rački
AuthorGaber Bergant
AuthorDejan Georgiev
AuthorDušan Flisar
AuthorEliša Papić
AuthorMarija Branković
AuthorMilena Janković
AuthorMarina Svetel
AuthorNataša Teran
AuthorAleš Maver
AuthorVladimir S. Kostić
AuthorIvana Novaković
AuthorZvezdan Pirtošek
AuthorMartin Rakuša
AuthorVladimira Vuletić
AuthorBorut Peterlin
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Neurology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract (english)
Abstract Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome sequencing and semi-quantitative multiplex ligation-dependent probe amplification of evidence-based PD-associated gene panel. We show that genetic testing for PD should be considered for both early-onset and familial patients alike, and a clinical yield of about 10% in the Caucasian population can be expected.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titlenpj Parkinson's Disease
Numberingvol. 8, no. 1, 149
e-ISSN2373-8057
DOIhttps://doi.org/10.1038/s41531-022-00408-6
URN:NBNurn:nbn:hr:184:569578
Publication2022-11-04
ProjectNumber: IP-2019-04-7276
Title (croatian): Epidemiologija Parkinsonove bolesti u Hrvatskoj i utjecaj genetskih čimbenika i mikrobiote na progresiju bolesti i ishod liječenja
Title (english): The epidemiology of Parkinson’s disease in Croatia and the influence of genetic factors and microbiota on the progression and treatment outcomes of the disease
Acronym: GiOPARK
Leader: Vladimira Vuletić
Jurisdiction: Croatia
Funding stream: IP
ProjectNumber: uniri-biomed-18-198
Title (croatian): Genetska epidemiologija Parkinsonove bolesti u Hrvatskoj
Title (english): Genetic epidemiology of Parkinson's disease in Croatia
Leader: Vladimira Vuletić
Jurisdiction: Croatia
Funding stream: Nema
Document URLhttps://www.nature.com/articles/s41531-022-00408-6
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2022-11-24 10:04:56