A relatively common hypomorphic variant in WARS2 causes monogenic disease. (January 2022)
- Record Type:
- Journal Article
- Title:
- A relatively common hypomorphic variant in WARS2 causes monogenic disease. (January 2022)
- Main Title:
- A relatively common hypomorphic variant in WARS2 causes monogenic disease
- Authors:
- Ilinca, Andreea
Kafantari, Efthymia
Puschmann, Andreas - Abstract:
- Is Part Of:
- Parkinsonism & related disorders. Volume 94(2022)
- Journal:
- Parkinsonism & related disorders
- Issue:
- Volume 94(2022)
- Issue Display:
- Volume 94, Issue 2022 (2022)
- Year:
- 2022
- Volume:
- 94
- Issue:
- 2022
- Issue Sort Value:
- 2022-0094-2022-0000
- Page Start:
- 129
- Page End:
- 131
- Publication Date:
- 2022-01
- Subjects:
- Mitochondrial disease -- Hypomorphic variants -- Mendelian disease -- Common variants -- Rare variants -- Early-onset Parkinson disease -- Myoclonus -- Dystonia -- WARS2 c.833T>G -- WARS2 p.(Val278Gly) -- WARS2 c.938A>T -- WARS2 p.(Lys313Met)
Parkinson's disease -- Periodicals
Movement disorders -- Periodicals
Movement Disorders -- Periodicals
Nerve Degeneration -- Periodicals
Nervous System Diseases -- Periodicals
Parkinson Disease -- Periodicals
Tremor -- Periodicals
Parkinson, Maladie de -- Périodiques
Parkinson's disease
616.833 - Journal URLs:
- http://www.sciencedirect.com/science/journal/13538020 ↗
http://www.clinicalkey.com/dura/browse/journalIssue/13538020 ↗
http://www.clinicalkey.com.au/dura/browse/journalIssue/13538020 ↗
http://www.prd-journal.com/ ↗
http://www.elsevier.com/journals ↗ - DOI:
- 10.1016/j.parkreldis.2022.01.012 ↗
- Languages:
- English
- ISSNs:
- 1353-8020
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 6406.787000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 20843.xml