التفاصيل البيبلوغرافية
| العنوان: |
Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example |
| المؤلفون: |
Norbert Brüggemann, Anne Weissbach, Ana Westenberger, Cid Czarina E. Diesta, Raymond L. Rosales, Christine Klein, Charles Jourdan Reyes, Harutyun Madoev, Martje G. Pauly, Sonja Petkovic, Aloysius Domingo, Laurie J. Ozelius, Marta Ruiz Lopez, Gerard Saranza, Roland Dominic G. Jamora |
| المصدر: |
Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(11) |
| سنة النشر: |
2019 |
| مصطلحات موضوعية: |
0301 basic medicine, medicine.medical_specialty, Movement disorders, Genotype, X-Linked Dystonia Parkinsonism, Clinical knowledge, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Psychiatry, Data collection, business.industry, Data Collection, Online database, Genetic Diseases, X-Linked, Missing data, 030104 developmental biology, Workflow, Neurology, Dystonic Disorders, Cohort, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery |
| الوصف: |
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and engaged the research community to provide additional clinical and genetic information, and (2) revisited previously unpublished data from a cohort of XDP patients seen at our institution. Using these approaches, we expanded the cohort to 577 cases and increased information available for important clinical and genetic features such as age at onset, initial manifestation, predominant motor symptoms, functional impairments, and repeat size information. We established the use of mining unpublished data to expand the MDSGene workflow and present an up-to-date description of the phenomenology of XDP using an extensive collection of previously reported and unreported data. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. |
| تدمد: |
1531-8257 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8fdc27776086a1b03b4f774408ab48
https://pubmed.ncbi.nlm.nih.gov/32949450 |
| Rights: |
OPEN |
| رقم الانضمام: |
edsair.doi.dedup.....5f8fdc27776086a1b03b4f774408ab48 |
| قاعدة البيانات: |
OpenAIRE |