Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease

[Data and Code Availability] Data used in the preparation of this article were obtained from the GP2 (https://gp2.org). Specifically, we used tier 2 data from GP2 release 8 (DOI 10.5281/zenodo.13755496). Tier 1 data can be accessed by completing a form on the AMP-PD website (https://amp-pd.org/regis...

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Detalhes bibliográficos
Autores: Lange, Lara M., Fang, Zih-Hua, Screven, Laurel, Tan, Ai Huey, Alcalay, Roy N., Amouri, Rim, Bovenzi, Roberta, Fenn, Matilda, Frost, Joshua L.I., Jankovic, Joseph, Jasaityte, Simona, Jaunmuktane, Zane, Jeon, Beomseok, Keller Sarmiento, Ignacio Juan, Krüger, Rejko, Kuhlenbäumer, Gregor, Lin, Chin-Hsien, Pavelka, Lukas, Periñan, Maria Teresa, Sassi, Samia Ben, Schirinzi, Tommaso, Shin, Jung Hwan, Shulman, Joshua M., Tay, Yi Wen, Uitti, Ryan, Warner, Tom, Wszolek, Zbigniew K., Wu, Lesley, Wu, Ruey-Meei, Zeuner, Kirsten E., Blauwendraat, Cornelis, Singleton, Andrew, Mencacci, Niccolò E., Morris, Huw R., Lim, Shen-Yang, Lohmann, Katja, Klein, Christine, Global Parkinson’s Genetics Program (GP2)
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2026
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:dnet:digitalcsic_::c88fd4ac30a9924921b0f6b6b8e40e18
Acesso em linha:http://hdl.handle.net/10261/431859
Access Level:acceso abierto
Palavra-chave:Dystonia
Monogenic
Parkinson's disease
GCH1
VPS16
Descrição
Resumo:[Data and Code Availability] Data used in the preparation of this article were obtained from the GP2 (https://gp2.org). Specifically, we used tier 2 data from GP2 release 8 (DOI 10.5281/zenodo.13755496). Tier 1 data can be accessed by completing a form on the AMP-PD website (https://amp-pd.org/register-for-amp-pd). Tier 2 data access requires approval and a Data Use Agreement signed by the institution. AMP-PD data can be accessed through the AMP-PD website (https://amp-pd.org). Qualified researchers are encouraged to apply for direct access to the data through AMP-PD. All codes generated for this article, and the identifiers for all software programs and packages used, are available on GitHub (https://github.com/GP2code/dystonia-genes-inPD) and were given a persistent identifier via Zenodo (DOI 10.5281/zenodo.15676002).

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