Associated Papers
Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.
Storey EC et al.
Neuromuscular Disorders : Nmd, 2024
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.
Fan Y et al.
Journal of Medical Genetics, 2021
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.
Bertrand AT et al.
Cells, 2020
Complex effects of laminopathy mutations on nuclear structure and function.
Ho R et al.
Clinical Genetics, 2019
Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation.
Briand N et al.
Nucleus (austin, Tex.), 2018
Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient.
Barateau A et al.
Cells, 2017
Chrom3D: three-dimensional genome modeling from Hi-C and nuclear lamin-genome contacts.
Paulsen J et al.
Genome Biology, 2017
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.
Barateau A et al.
Plos One, 2017
Select a paper to view details