Associated Papers
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & Metabolism, 2024
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
Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.
Guidorizzi NR et al.
Frontiers in Endocrinology, 2024
Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy.
Santos JL et al.
Frontiers in Genetics, 2024
Waist circumference is independently associated with liver steatosis and fibrosis in LMNA-related and unrelated Familial Partial Lipodystrophy women.
Viola LF et al.
Diabetology & Metabolic Syndrome, 2023
Increased musculature: A warning sign of familial partial lipodystrophy.
Araujo-Vilar D et al.
Endocrinologia, Diabetes Y Nutricion, 2023
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene.
Araújo-Vilar D et al.
Journal of Clinical Medicine, 2021
Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.
Kandhaya-Pillai R et al.
Aging Pathobiology and Therapeutics, 2020
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C et al.
Nucleus (austin, Tex.), 2018
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.
Mory PB et al.
European Journal of Endocrinology, 2012
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation.
Valerio CM et al.
Diabetology & Metabolic Syndrome, 2012
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