Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

Hirsch, Y., Chung, W. K., Novoselov, S., Weimer, L. H., Rossor, A., LeDuc, C. A., McPartland, A. J., Cabrera, E., Ekstein, J., Scher, S., Nelson, R. F., Schiavo, G., Henderson, L. B., & Booth, K. T. A. (2023). Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. International Journal of Molecular Sciences, 24(10), 8897. https://doi.org/10.3390/ijms24108897
Authors:
Yoel Hirsch
Wendy K. Chung
Sergey S. Novoselov
Louis H. Weimer
Alexander M. Rossor
Charles A. LeDuc
Ann McPartland
Ernesto Cabrera
Josef Ekstein
Sholem Y. Scher
Rick F. Nelson
Giampietro Schiavo
Lindsay B. Henderson
Kevin T. Booth
Affiliated Authors:
Wendy K. Chung
Louis H. Weimer
Charles A. LeDuc
Ann McPartland
Columbia Affiliation:
Subjects:
Deafness (MeSH)
Hearing Loss (MeSH)
Peripheral Nervous System Diseases (MeSH)
Mechanisms of Intracellular Membrane Trafficking (OpenAlex Topic)
Molecular Mechanisms of Ion Channels Regulation (OpenAlex Topic)
Molecular Mechanisms of Neurodegenerative Diseases (OpenAlex Topic)
Author Keywords:
ashkenazi jewish
cmt
cytoplasmic dynein
hearing loss
microtubule-based transport
elink
Publication Type:
Article
Unique ID:
10.3390/ijms24108897
PMID:
37240244
DOI:
10.3390/ijms24108897
Journal:
International Journal of Molecular Sciences
Publication Date:
Data Source:
OpenAlex
Source Link:
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