Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Bonnet, Celine; Pellerin, David; Roth, Virginie; Clement, Guillemette; Wandzel, Marion; Lambert, Laetitia; Frismand, Solene; Douarinou, Marian; Grosset, Anais; Bekkour, Ines; Weber, Frederic; Girardier, Florent; Robin, Clement; Cacciatore, Stephanie; Bronner, Myriam; Pourie, Carine; Dreumont, Natacha; Puisieux, Salome; Iruzubieta, Pablo; Dicaire, Marie-Josee; Evoy, Francois; Rioux, Marie-France; Hocquel, Armand; La Piana, Roberta; Synofzik, Matthis; Houlden, Henry; Danzi, Matt C. C.; Zuchner, Stephan; Brais, Bernard; Renaud, Mathilde

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Author:

Bonnet, Celine; Pellerin, David; Roth, Virginie; Clement, Guillemette; Wandzel, Marion; Lambert, Laetitia; Frismand, Solene; Douarinou, Marian; Grosset, Anais; Bekkour, Ines; Weber, Frederic; Girardier, Florent; Robin, Clement; Cacciatore, Stephanie; Bronner, Myriam; Pourie, Carine; Dreumont, Natacha; Puisieux, Salome; Iruzubieta, Pablo; Dicaire, Marie-Josee; Evoy, Francois; Rioux, Marie-France; Hocquel, Armand; La Piana, Roberta; Synofzik, Matthis; Houlden, Henry; Danzi, Matt C. C.; Zuchner, Stephan; Brais, Bernard; Renaud, Mathilde

Tübinger Autor(en):

Synofzik, Matthis

Published in:

Scientific Reports (2023), Bd. 13 (1), Article 9737

Verlagsangabe:

Berlin : Nature Portfolio

Language:

English

Full text:

http://dx.doi.org/10.1038/s41598-023-36654-8

ISSN:

2045-2322