| Concentric organization of A-and B-type lamins predicts their distinct roles in the spatial organization and stability of the nuclear lamina B Nmezi, J Xu, R Fu, TJ Armiger, G Rodriguez-Bey, JS Powell, H Ma, ... Proceedings of the National Academy of Sciences 116 (10), 4307-4315, 2019 | 122 | 2019 |
| Defects of lipid synthesis are linked to the age-dependent demyelination caused by lamin B1 overexpression H Rolyan, YY Tyurina, M Hernandez, AA Amoscato, LJ Sparvero, ... Journal of Neuroscience 35 (34), 12002-12017, 2015 | 70 | 2015 |
| TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes J Curiel, G Rodríguez Bey, A Takanohashi, M Bugiani, X Fu, NI Wolf, ... Human molecular genetics 26 (22), 4506-4518, 2017 | 60 | 2017 |
| Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations C Mancini, S Nassani, Y Guo, Y Chen, E Giorgio, A Brussino, ... Journal of neurology 262, 173-178, 2015 | 39 | 2015 |
| CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation A Potic, B Nmezi, QS Padiath Journal of the Neurological Sciences 358 (1-2), 453-456, 2015 | 29 | 2015 |
| Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy B Nmezi, E Giorgio, R Raininko, A Lehman, M Spielmann, MK Koenig, ... Neurology: Genetics 5 (1), e305, 2019 | 21 | 2019 |
| An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 C Mancini, L Orsi, Y Guo, J Li, Y Chen, F Wang, L Tian, X Liu, J Zhang, ... BMC Medical Genetics 16, 1-7, 2015 | 14 | 2015 |
| Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy MC Do Rosario, GR Bey, B Nmezi, F Liu, T Oranburg, ASA Cohen, ... Brain 145 (12), 4202-4209, 2022 | 6 | 2022 |
| Development and optimization of a high-content analysis platform to identify suppressors of Lamin B1 overexpression as a therapeutic strategy for autosomal dominant leukodystrophy B Nmezi, LL Vollmer, TY Shun, A Gough, H Rolyan, F Liu, Y Jia, ... SLAS DISCOVERY: Advancing the Science of Drug Discovery 25 (8), 939-949, 2020 | 5 | 2020 |
| Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea J Liao, KA Coffman, J Locker, QS Padiath, B Nmezi, RA Filipink, J Hu, ... Molecular Genetics & Genomic Medicine 9 (4), e1647, 2021 | 3 | 2021 |
| An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants B Nmezi, GR Bey, TDF Oranburg, K Dudnyk, SM Lardo, N Herdman, ... bioRxiv, 2023.08. 03.551473, 2023 | | 2023 |
| Breaking TADs: an emerging pathogenic mechanism exemplified by Autosomal Dominant demyelinating LeukoDystrophy (ADLD) E Giorgio, M Spielmann, BC Nmezi, G Vaula, A Lehman, A Brussino, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 852-853, 2019 | | 2019 |
| The Role of Lamin B1 in the Organization of the Nuclear Envelope and Myelin Regulation in Development and Disease BC Nmezi University of Pittsburgh, 2019 | | 2019 |
| Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression (August, pg 12002, 2015) H Rolyan, YY Tyurina, M Hernandez, AA Amoscato, LJ Sparvero, ... JOURNAL OF NEUROSCIENCE 36 (28), 7557-7557, 2016 | | 2016 |
| TUBB4A Mutations Cause Diverse Neurologic Phenotypes Related to Differences in Microtubule Dynamics J Curiel, A Takanohashi, van, der Knaap MS, B Nmezi, R Schiffmann, ... ANNALS OF NEUROLOGY 78, S192-S192, 2015 | | 2015 |
| EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA C Mancini, S Nassani, Y Guo, E Giorgio, A Calcia, X Liu, E DI GREGORIO, ... Abstracts ESHG 2014, 56-57, 2014 | | 2014 |
| Supplement to TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes J Curiel, GR Bey, A Takanohashi, M Bugiani, X Fu, NI Wolf, B Nmezi, ... | | |
