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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

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