POLR3A-related disorders: expanding the clinical phenotype
J Neurol
.
2024 Jun;271(6):3635-3638.
doi: 10.1007/s00415-024-12265-9.
Epub 2024 Feb 27.
Authors
Mary Clare McKenna
#
1
,
Antoinette O'Connor
#
2
,
Andrew Lockhart
3
,
Petya Bogdanova-Mihaylova
2
,
Francesca Brett
4
,
Yvonne Langan
5
,
James Meaney
6
,
Donal Costigan
7
,
Colin P Doherty
3
8
,
Peter Bede
3
,
Sinéad M Murphy
#
2
8
,
Siobhán Hutchinson
#
3
Affiliations
1
Neurology Department, St. James's Hospital, Dublin 8, Ireland. maryclaremck@icloud.com.
2
Neurology Department, Tallaght University Hospital, Dublin 24, Ireland.
3
Neurology Department, St. James's Hospital, Dublin 8, Ireland.
4
Neuropathology Department, Beaumont Hospital, Dublin 9, Ireland.
5
Neurophysiology Department, St. James's Hospital, Dublin 8, Ireland.
6
Radiology Department, St. James's Hospital, Dublin 8, Ireland.
7
Neurology and Neurophysiology Department, Mater Private Hospital, Dublin 7, Ireland.
8
Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Dublin 2, Ireland.
#
Contributed equally.
PMID:
38413463
DOI:
10.1007/s00415-024-12265-9
No abstract available
Publication types
Letter
Case Reports
MeSH terms
Female
Humans
Male
Mutation
Phenotype*
RNA Polymerase III* / genetics
RNA Polymerase III* / immunology
Substances
RNA Polymerase III
POLR3A protein, human