Associated Papers
The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.
Shchagina O et al.
International Journal of Molecular Sciences, 2025
Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.
Besci O et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Vasandani C et al.
Journal of the Endocrine Society, 2022
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Atalaia A et al.
Journal of Neuromuscular Diseases, 2021
Diagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety.
Vasandani C et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
[Deregulation of pre-messenger RNA splicing and rare diseases].
de la Grange P
Medecine Sciences : M/s, 2016
Normal and aberrant splicing of LMNA.
Luo YB et al.
Journal of Medical Genetics, 2014
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.
Hegele RA et al.
Journal of Lipid Research, 2007
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.
Morel CF et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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