Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family.

Saffie Awad, Paula; Lohmann, Katja; Hirmas, Yasmin; Hinrichs, Frauke; Thomsen, Mirja; Kauffman, Marcelo; Lüth, Theresa; Trinh, Joanne; Westenberger, Ana; Chaná-Cuevas, Pedro; Klein, Christine

Saffie Awad, Paula; Lohmann, Katja; Hirmas, Yasmin; Hinrichs, Frauke; Thomsen, Mirja; Kauffman, Marcelo; Lüth, Theresa; Trinh, Joanne; Westenberger, Ana; Chaná-Cuevas, Pedro; Klein, Christine.

Affiliation

Saffie Awad P; Centro de Trastornos del Movimiento, Santiago, Chile.
Lohmann K; Clínica Santa María, Santiago, Chile.
Hirmas Y; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Hinrichs F; Universidad de Los Andes, Santiago, Chile.
Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Kauffman M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Lüth T; Neurogenetics Unit, Hospital General de Agudos José Maria Ramos Mejía, Buenos Aires, Argentina.
Trinh J; IIMT-FCB-Universidad Austral-CONICET, Buenos Aires, Argentina.
Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Chaná-Cuevas P; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Mov Disord ; 38(6): 1107-1109, 2023 06.

Article in En | MEDLINE | ID: mdl-37246629

Subject(s)

Cerebellar Ataxia; Humans; Ataxia/genetics; Chile; Tremor

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia Limits: Humans Country/Region as subject: America do sul / Chile Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2023 Document type: Article Affiliation country: Chile Country of publication: United States

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google