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Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the SYNE1 gene (p.Arg5371*). This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive co...
Autores principales: | Spagnolo, Francesca, Monfrini, Edoardo, Pinto, Vincenza, Di Maggio, Giovanni, De Marco, Paolo, Comi, Giacomo P., Rini, Augusto, Di Fonzo, Alessio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300247/ https://www.ncbi.nlm.nih.gov/pubmed/37388713 http://dx.doi.org/10.1016/j.prdoa.2023.100205 |
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