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Journal of the Neurological Sciences|October 11, 2015
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutationAna Potic, Bruce Nmezi, Quasar S Padiath
SLAS Discovery : Advancing Life Sciences R & D|May 1, 2020
Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant LeukodystrophyBruce Nmezi, Laura L Vollmer, Tong Ying Shun, et al.
Scientific Reports|March 2, 2025
A high throughput, high content screen for non-toxic small molecules that reduce levels of the nuclear lamina protein, Lamin B1Laura L Vollmer, Fang Liu, Bruce Nmezi, et al.
Neurology. Genetics|March 8, 2019
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophyBruce Nmezi, Elisa Giorgio, Raili Raininko, et al.
Human Molecular Genetics|October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypesJulian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 16, 2019
Concentric organization of A- and B-type lamins predicts their distinct roles in the spatial organization and stability of the nuclear laminaBruce Nmezi, Jianquan Xu, Rao Fu, et al.
Molecular Genetics & Genomic Medicine|March 5, 2021
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary choreaJun Liao, Keith A Coffman, Joseph Locker, et al.
Journal of Neurology|November 1, 2014
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutationsCecilia Mancini, Stefano Nassani, Yiran Guo, et al.
Brain : a Journal of Neurology|August 11, 2022
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophyMichelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, et al.
Biorxiv : the Preprint Server for Biology|August 23, 2023
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variantsBruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, et al.
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