A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

Tubulinopathies encompass neurodevelopmental disorders caused by mutations in genes encoding for different isotypes of α- and β-tubulins, the structural components of microtubules. Less frequently, mutations in tubulins may underlie neurodegenerative disorders. In the present study, we report two fa...

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Detalles Bibliográficos
Autores principales: Torella, Annalaura, Ricca, Ivana, Piluso, Giulio, Galatolo, Daniele, De Michele, Giuseppe, Zanobio, Mariateresa, Trovato, Rosanna, De Michele, Giovanna, Zeuli, Roberta, Pane, Chiara, Cocozza, Sirio, Saccà, Francesco, Santorelli, Filippo M., Nigro, Vincenzo, Filla, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511369/
https://www.ncbi.nlm.nih.gov/pubmed/37418012
http://dx.doi.org/10.1007/s00415-023-11816-w

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