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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...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2023
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Materias: | |
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 |