POLR3A-related disorders: expanding the clinical phenotype.

Autor: McKenna MC; Neurology Department, St. James's Hospital, Dublin 8, Ireland. maryclaremck@icloud.com., O'Connor A; Neurology Department, Tallaght University Hospital, Dublin 24, Ireland., Lockhart A; Neurology Department, St. James's Hospital, Dublin 8, Ireland., Bogdanova-Mihaylova P; Neurology Department, Tallaght University Hospital, Dublin 24, Ireland., Brett F; Neuropathology Department, Beaumont Hospital, Dublin 9, Ireland., Langan Y; Neurophysiology Department, St. James's Hospital, Dublin 8, Ireland., Meaney J; Radiology Department, St. James's Hospital, Dublin 8, Ireland., Costigan D; Neurology and Neurophysiology Department, Mater Private Hospital, Dublin 7, Ireland., Doherty CP; Neurology Department, St. James's Hospital, Dublin 8, Ireland.; Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Dublin 2, Ireland., Bede P; Neurology Department, St. James's Hospital, Dublin 8, Ireland., Murphy SM; Neurology Department, Tallaght University Hospital, Dublin 24, Ireland.; Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Dublin 2, Ireland., Hutchinson S; Neurology Department, St. James's Hospital, Dublin 8, Ireland.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2024 Jun; Vol. 271 (6), pp. 3635-3638. Date of Electronic Publication: 2024 Feb 27.
DOI: 10.1007/s00415-024-12265-9
Databáze: MEDLINE