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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 Više autora...

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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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, br. 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, br. 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, i sur.. A multicenter study of genetic testing for Parkinson’s disease in the clinical setting. npj Parkinson's Disease [Internet]. 04.11.2022. [pristupljeno 04.05.2024.];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, br. 1, Studeni 2022. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:569578. [Citirano: 04.05.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:569578
Podaci o radu
Naslov (engleski)A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
AutorAnja Kovanda
AutorValentino Rački
AutorGaber Bergant
AutorDejan Georgiev
AutorDušan Flisar
AutorEliša Papić
AutorMarija Branković
AutorMilena Janković
AutorMarina Svetel
AutorNataša Teran
AutorAleš Maver
AutorVladimir S. Kostić
AutorIvana Novaković
AutorZvezdan Pirtošek
AutorMartin Rakuša
AutorVladimira Vuletić
AutorBorut Peterlin
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za neurologiju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Neurologija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisanpj Parkinson's Disease
Brojčani podacivol. 8, br. 1, 149
e-ISSN2373-8057
DOIhttps://doi.org/10.1038/s41531-022-00408-6
URN:NBNurn:nbn:hr:184:569578
Datum objave publikacije2022-11-04
ProjektŠifra: IP-2019-04-7276
Naziv (hrvatski): Epidemiologija Parkinsonove bolesti u Hrvatskoj i utjecaj genetskih čimbenika i mikrobiote na progresiju bolesti i ishod liječenja
Naziv (engleski): 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
Kratica: GiOPARK
Voditelj: Vladimira Vuletić
Pravna nadležnost: Hrvatska
Financijer: HRZZ
Linija financiranja: IP
ProjektŠifra: uniri-biomed-18-198
Naziv (hrvatski): Genetska epidemiologija Parkinsonove bolesti u Hrvatskoj
Naziv (engleski): Genetic epidemiology of Parkinson's disease in Croatia
Voditelj: Vladimira Vuletić
Pravna nadležnost: Hrvatska
Financijer: NadSve
Linija financiranja: Nema
URL dokumentahttps://www.nature.com/articles/s41531-022-00408-6
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2022-11-24 10:04:56