Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family
Mov Disord
.
2023 Jun;38(6):1107-1109.
doi: 10.1002/mds.29390.
Epub 2023 May 29.
Authors
Paula Saffie Awad
1
2
,
Katja Lohmann
3
,
Yasmin Hirmas
4
,
Frauke Hinrichs
3
,
Mirja Thomsen
3
,
Marcelo Kauffman
5
6
,
Theresa Lüth
3
,
Joanne Trinh
3
,
Ana Westenberger
3
,
Pedro Chaná-Cuevas
1
7
,
Christine Klein
3
Affiliations
1
Centro de Trastornos del Movimiento, Santiago, Chile.
2
Clínica Santa María, Santiago, Chile.
3
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
4
Universidad de Los Andes, Santiago, Chile.
5
Neurogenetics Unit, Hospital General de Agudos José Maria Ramos Mejía, Buenos Aires, Argentina.
6
IIMT-FCB-Universidad Austral-CONICET, Buenos Aires, Argentina.
7
Facultad de Ciencias Médicas, Universidad de Santiago de Chile, Santiago, Chile.
PMID:
37246629
DOI:
10.1002/mds.29390
No abstract available
Publication types
Case Reports
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Ataxia / genetics
Cerebellar Ataxia*
Chile
Humans
Tremor
Substances
RFC1 protein, human
fibroblast growth factor 14