Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A, a gene that encodes an anterograde neuronal microtubule (MT) motor protein. Here we characterize the natural history of KAND in 117 individuals using a combination of c...

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Detalles Bibliográficos
Autores principales: Boyle, Lia, Rao, Lu, Kaur, Simranpreet, Fan, Xiao, Mebane, Caroline, Hamm, Laura, Thornton, Andrew, Ahrendsen, Jared T., Anderson, Matthew P., Christodoulou, John, Gennerich, Arne, Shen, Yufeng, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054982/
https://www.ncbi.nlm.nih.gov/pubmed/33880452
http://dx.doi.org/10.1016/j.xhgg.2021.100026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054982/
https://www.ncbi.nlm.nih.gov/pubmed/33880452
http://dx.doi.org/10.1016/j.xhgg.2021.100026

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