Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

Flex, E., Albadri, S., Radio, F. C., Cecchetti, S., Lauri, A., Priolo, M., Kissopoulos, M., Carpentieri, G., Fasano, G., Venditti, M., Magliocca, V., Bellacchio, E., Welch, C. L., Colombo, P. C., Kochav, S. M., Chang, R., Barrick, R., Trivisano, M., Micalizzi, A., … Tartaglia, M. (2022). Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Human Molecular Genetics, 32(3), 473–488. https://doi.org/10.1093/hmg/ddac213
Authors:
Elisabetta Flex
Shahad Albadri
Francesca Clementina Radio
Serena Cecchetti
Antonella Lauri
Manuela Priolo
Marta Kissopoulos
Giovanna Carpentieri
Giulia Fasano
Martina Venditti
Valentina Magliocca
Emanuele Bellacchio
Carrie L. Welch
Paolo C. Colombo
Stephanie M. Kochav
Richard Chang
Rebekah Barrick
Marina Trivisano
Alessia Micalizzi
Rossella Borghi
Elena Messina
Cecilia Mancini
Simone Pizzi
Flavia De Santis
Marion Rosello
Nicola Specchio
Claudia Compagnucci
Kirsty McWalter
Wendy K. Chung
Filippo Del Bene
Marco Tartaglia
Affiliated Authors:
Carrie L. Welch
Paolo C. Colombo
Stephanie M. Kochav
Wendy K. Chung
Columbia Affiliation:
Subjects:
Kinesins (MeSH)
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Publication Type:
Article
Unique ID:
10.1093/hmg/ddac213
PMID:
36018820
DOI:
10.1093/hmg/ddac213
Journal:
Human Molecular Genetics
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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