Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

OBJECTIVE: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). The aim of this study was to investigate the clinical and genetic features of SPG6 in a Taiwanese HSP cohort. METHODS: We screened 242 unrelated Taiwanese patients...

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Detalles Bibliográficos
Autores principales: Fang, Shih‐Yu, Chou, Ying‐Tsen, Hsu, Kuo‐Chou, Hsu, Shao‐Lun, Yu, Kai‐Wei, Tsai, Yu‐Shuen, Liao, Yi‐Chu, Tsai, Pei‐Chien, Lee, Yi‐Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014004/
https://www.ncbi.nlm.nih.gov/pubmed/36607129
http://dx.doi.org/10.1002/acn3.51724

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