Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder

Sudnawa, K. K., Li, W., Calamia, S., Kanner, C. H., Bain, J. M., Abdelhakim, A. H., Geltzeiler, A., Mebane, C. M., Provenzano, F. A., Sands, T. T., Fee, R. J., Montes, J., Shen, Y., & Chung, W. K. (2024). Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Genetics in Medicine, 26(8), 101169. https://doi.org/10.1016/j.gim.2024.101169
Authors:
Khemika K Sudnawa
Wenxing Li
Sean Calamia
Cara H Kanner
Jennifer M Bain
Aliaa H Abdelhakim
Alexa Geltzeiler
Caroline M Mebane
Frank A Provenzano
Tristan T Sands
Robert J Fee
Jacqueline Montes
Yufeng Shen
Wendy K Chung
Affiliated Authors:
Wenxing Li
Sean Calamia
Cara H Kanner
Jennifer M Bain
Aliaa H Abdelhakim
Frank A Provenzano
Tristan T Sands
Robert J Fee
Jacqueline Montes
Yufeng Shen
Columbia Affiliation:
Subjects:
Kinesins (MeSH)
Mutation, Missense (MeSH)
Phenotype (MeSH)
Genotype (MeSH)
Author Keywords:
adaptive function
cognitive impairment
esm
kif1a
neurological disorder
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2024.101169
PMID:
38785164
DOI:
10.1016/j.gim.2024.101169
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: