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Article

Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2020

Pauly Martje G, Ruiz López Marta, Westenberger Ana, Saranza Gerard, Brüggemann Norbert, Weissbach Anne, Rosales Raymond L, Diesta Cid C, Jamora Roland D G, Reyes Charles J, Madoev Harutyun, Petkovic Sonja, Ozelius Laurie J, Klein Christine, Domingo Aloysius

Abstract excerpt

MDSGene is an online database on movement disorders that collates genetic and clinical knowledge using a standardized published literature abstraction strategy. This review is dedicated to X-linked dystonia-parkinsonism (XDP). We screened 233 citations and curated phenotypic and genotypic data for 414 cases. To reduce data missingness, we (1) contacted authors and engaged the research community to provide...

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PMID: 32949450
DOI: 10.1002/mds.28289

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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