Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.

Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.

Lamin A/C in health, laminopathies, and familial partial lipodystrophy 2.

A simple and robust reporter-based framework for deep functional characterization of PPARγ mutants.

A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.

Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.

Increased epicardial adipose tissue is part of the phenotype of LMNA-associated partial lipodystrophy and could contribute to increased cardiovascular risk.

Genomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment.

Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.

Targeting mineralocorticoid receptors to treat metabolic diseases via the adipocyte.

Improvement of severe hypertriglyceridemia in atypical subtype 4 partial lipodystrophy with volanesorsen.

Metabolic effects of pioglitazone and sodium-glucose cotransporter 2 inhibitors in familial partial lipodystrophy.

Epicardial adipose tissue measurement is an interesting biomarker for cardiovascular health in a case control study of patients with familial partial type 2 lipodystrophy.

Coincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy.

Altered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2.

Epidemiological and clinical data from the European Lipodystrophy Registry.

Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.

Calf skinfold measurements as a diagnostic tool for lipodystrophy syndromes: a cross-sectional study.

The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions.

Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome.

Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report.

Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia.

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Interesting Case of Familial Partial Lipodystrophy Syndrome (Type 6) with LIPE Gene Defect: A Case Report.

A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.

Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.

Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.

Diagnosis and Management of Genetic Lipodystrophy Syndromes and its Implications for Atherosclerosis.

Novel Therapeutics for Familial Chylomicronemia Syndrome.

Comprehensive impact of PPARG mutations in familial partial lipodystrophy type 3: Diagnosis, therapeutic strategies.

Leptin acutely increases hepatic triglyceride secretion in patients with lipodystrophy.

Lipodystrophy and severe insulin resistance syndrome: Epidemiological data from a French national rare diseases registry.

A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.

Efficacy and Safety of Obeticholic Acid for Treating Hepatic Steatosis in Patients With Familial Partial Lipodystrophy.

Metabolic Improvements With Tirzepatide in Lipodystrophy: A Novel Option?

Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.

LMNA R482L mutation causes impairments in C2C12 myoblasts subpopulations, alterations in metabolic reprogramming during differentiation, and oxidative stress.

Safety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: Real-life experience from a national reference network.

Tirzepatide for Lipodystrophy.

"I suffer from several serious diseases." Dunnigan type of familial partial lipodystrophy: a multiple-symptom disorder caused by a genetic mutation.

Corrigendum: Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.

Peroxisome proliferator-activated receptor gamma mutation in familial partial lipodystrophy type three: A case report and review of literature.

Health-related Quality of Life, Social, and Psychological Well-Being of 109 Adult Patients With Genetic Lipodystrophy.

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy.

Gain of Function NOTCH3 Variants Cause Familial Partial Lipodystrophy Due to Activation of Senescence Pathways.

Genomic and Bioinformatics Analysis of Familial Partial Lipodystrophy Type 3 Identified in a Patient with Novel PPARγ Mutation and Robust Response to Pioglitazone.

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

Identification and characterization of a case of mild familial partial lipodystrophy in a carrier of a LMNA p.Arg582Leu variant.

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9.

Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.

Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.

Assessment of aortomesenteric distance and mesenteric and retroperitoneal adipose tissue thickness in genetic forms of lipodystrophy.

Cardiac laminopathy in familial partial lipodystrophy type 2 secondary to variants in the LMNA gene.

Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.

Cardiometabolic risk factors in women: what's sauce for the goose is not sauce for the gander.

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.

Navigating Lipodystrophy: Insights from Laminopathies and Beyond.

Circulating exosomal circRNA-miRNA-mRNA network in a familial partial lipodystrophy type 3 family with a novel PPARG frameshift mutation c.418dup.

Understanding Cardiac Alterations in Familial Partial Lipodystrophy: Insights from Echocardiography.

Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.

Echocardiographic Alterations of Cardiac Geometry and Function in Patients with Familial Partial Lipodystrophy.

Hypertriglyceridemia Results From an Impaired Catabolism of Triglyceride-Rich Lipoproteins in PLIN1-Related Lipodystrophy.

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.

Partial lipodystrophy: Clinical presentation and treatment.

Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?

Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.

Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.

Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy.

Early Atherosclerosis and Conduction Defect in a Rare Case of Dunnigan Type Familial Partial Lipodystrophy.

Labia Majora Hypertrophy in a Patient Affected by Familial Partial Lipodystrophy Type 5: A Case Report on Diagnosis, Presentation, and Surgical Correction.

Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.

Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits.

Clinical and imaging features of women with polygenic partial lipodystrophy: a case series.

Efficacy and Safety of Glucagon-Like Peptide 1 Agonists in a Retrospective Study of Patients With Familial Partial Lipodystrophy.

Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation.

Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.

Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.

Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction.

A Very-Low-Calorie Diet Can Cause Remission of Diabetes Mellitus and Hypertriglyceridemia in Familial Partial Lipodystrophy.

Refining Evaluation of Bone Mass and Adipose Distribution in Dunnigan Syndrome.

Waist circumference is independently associated with liver steatosis and fibrosis in LMNA-related and unrelated Familial Partial Lipodystrophy women.

Isolated Congenital Lower Limb Lipoatrophy: A Case Report and Literature Review.

Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.

A promising treatment for spontaneous ovarian hyperstimulation syndrome due to familial partial lipodystrophy: GnRH analogs combined with cyst aspiration.

Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies.

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

High-throughput Second-generation Sequencing Technology Assisted Diagnosis of Familial Partial Lipodystrophy (Type 2 Kobberling-Dunnigan Syndrome): A Case Report.

Drosophila Models Reveal Properties of Mutant Lamins That Give Rise to Distinct Diseases.

APOC3 inhibition with volanesorsen reduces hepatic steatosis in patients with severe hypertriglyceridemia.

Increased musculature: A warning sign of familial partial lipodystrophy.

Familial partial lipodystrophy type 2 and obesity, two adipose tissue pathologies with different inflammatory profiles.

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.

Inguinal Fat Compensates Whole Body Metabolic Functionality in Partially Lipodystrophic Mice with Reduced PPARγ Expression.

Pelvis Magnetic Resonance Imaging to Diagnose Familial Partial Lipodystrophy.

Loss of Mature Lamin A/C Triggers a Shift in Intracellular Metabolic Homeostasis via AMPKα Activation.

Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study: Volanesorsen in FPLD; The BROADEN Study.

Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.

Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.

Clinical characteristics and efficacy of pioglitazone in a Japanese patient with familial partial lipodystrophy due to peroxisome proliferator-activated receptor γ gene mutation.

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease.

Cellular Metabolism and Bioenergetic Function in Human Fibroblasts and Preadipocytes of Type 2 Familial Partial Lipodystrophy.

Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series.

Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up.

Lipodystrophy for the Diabetologist-What to Look For.

Visualisation pattern of fat distribution of a rare disorder: familial partial lipodystrophy (FPLD).

Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient.

Nuclear lamins: Structure and function in mechanobiology.

Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia.

Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy.

Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes.

Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study.

Advances in the care of lipodystrophies.

Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.

Familial partial lipodystrophy syndromes.

Rapid response to leptin therapy in a FPLD patient with a novel PPARG missense variant.

Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2.

Adenine base editing to treat progeria syndrome and extend the lifespan.

A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.

Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance.

Adipocyte-Specific Deletion of Lamin A/C Largely Models Human Familial Partial Lipodystrophy Type 2.

Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant.

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene.

Partial Lipodystrophy and LMNA p.R545H Variant.

Cardiac phenotype in familial partial lipodystrophy.

The Metabolic Equivalent BMI in Patients with Familial Partial Lipodystrophy (FPLD) Compared with Those with Severe Obesity.

The Influence of a Conjugated Pneumococcal Vaccination on Plasma Antibody Levels against Oxidized Low-Density Lipoprotein in Metabolic Disease Patients: A Single-Arm Pilot Clinical Trial.

Nephrotic range proteinuria associated with focal segmental glomerulosclerosis reversed with pioglitazone therapy in a patient with Dunnigan type lipodystrophy.

A Comprehensive Update on the Chylomicronemia Syndrome.

Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1.

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.

SEVERE HYPERTRIGLYCERIDEMIA ASSOCIATED WITH EVEROLIMUS TREATMENT AFTER HEART TRANSPLANTATION.

[Recognize rare diseases by the adipose tissue : Lipodystrophy-actually simple but nevertheless often overlooked].

LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile.

Development of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy.

Development and Clinical Applications of Antisense Oligonucleotide Gapmers.

Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2.

Volanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy.

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.

UNUSUAL PRESENTATIONS OF LMNA-ASSOCIATED LIPODYSTROPHY WITH COMPLEX PHENOTYPES AND GENERALIZED FAT LOSS: WHEN THE GENETIC DIAGNOSIS UNCOVERS NOVEL FEATURES.

Peroxisome proliferator-activated receptor gamma-ligand-binding domain mutations associated with familial partial lipodystrophy type 3 disrupt human trophoblast fusion and fibroblast migration.

Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature.

Familial Partial Lipodystrophy (FPLD): Recent Insights.

Cardiac Alterations in Patients with Familial Lipodystrophy.

Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene.

Diagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety.

Relapsing and Progressive Complications of Severe Hypertriglyceridemia: Effective Long-Term Treatment with Double Filtration Plasmapheresis.

Imaging spectrum of abnormal subcutaneous and visceral fat distribution.

Metabolomic Analysis of the Effects of Leptin Replacement Therapy in Patients with Lipodystrophy.

The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy.

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.

Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene.

Massive labial lipomatous hypertrophy in familial partial lipodystrophy seen on computed tomographic angiography.

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.

Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning.

Volanesorsen: First Global Approval.

Genetics of lipedema: new perspectives on genetic research and molecular diagnoses.

R482L Mutation of the LMNA Gene Affects Dynamics of C2C12 Myogenic Differentiation and Stimulates Formation of Intramuscular Lipid Droplets.

Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.

Clinical characteristics in two patients with partial lipodystrophy and Type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.

Fatty liver in lipodystrophy: A review with a focus on therapeutic perspectives of adiponectin and/or leptin replacement.

The Chylomicronemia Syndrome Is Most Often Multifactorial: A Narrative Review of Causes and Treatment.

Clinical utility of genomic analysis in adults with idiopathic liver disease.

Phenotypic diversity and glucocorticoid sensitivity in patients with familial partial lipodystrophy type 2.

Structural instability of lamin A tail domain modulates its assembly and higher order function in Emery-Dreifuss muscular dystrophy.

Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy.

A typical clinical presentation of a woman with Köbberling syndrome.

The Cutting Edge: The Role of mTOR Signaling in Laminopathies.

Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.

Evaluation of the hypothalamic-pituitary-adrenal axis in a case series of familial partial lipodystrophy.

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.

Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease.

Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants.

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

Pancreatic fat deposition is increased and related to beta-cell function in women with familial partial lipodystrophy.

"Fat Shadows" From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers.

Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.

Irisin levels in LMNA-associated partial lipodystrophies.

Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects.

Lamin A, Chromatin and FPLD2: Not Just a Peripheral Ménage-à-Trois.

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Inflammatory myopathy in the context of an unusual overlapping laminopathy.

P465L-PPARγ mutation confers partial resistance to the hypolipidaemic action of fibrates.

The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature.

A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria.

Renal complications of lipodystrophy: A closer look at the natural history of kidney disease.

A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.

Clinical Characteristics, Phenotype of Lipodystrophy and a Genetic Analysis of Six Diabetic Japanese Women with Familial Partial Lipodystrophy in a Diabetic Outpatient Clinic.