Associated Papers
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 2025
Unravelling the genetic landscape of cervical insufficiency: Insights into connective tissue dysfunction and hormonal pathways.
Voložonoka L et al.
Plos One, 2024
39298385 (PubMed )
Supplement: pone.0310718.s001.xlsx › Sheet1
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
[A case of laminopathy with the mutation of LMNA gene identified by the exome analysis of disease-related genes].
Nakamura K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2021
Genetic Basis and Genotype-Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy.
Zhang XL et al.
Scientific Reports, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.
Iwahara N et al.
Bmc Neurology, 2015
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Peeters K et al.
Brain : a Journal of Neurology, 2014
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
Rudnik-Schöneborn S et al.
Neurogenetics, 2007
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
Rudnik-Schöneborn S et al.
American Journal of Human Genetics, 1994
Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy.
Te Rijdt WP et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0
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