• 17β-Estradiol-Induced Conformational Changes of Human Microsomal Triglyceride Transfer Protein: A Computational Molecular Modelling Study
• A Case of Chorea-Acanthocytosis with FDG PET/CT Imaging
• A case of chorea-acanthocytosis with significant improvement of symptoms at one year with deep brain stimulation: case report and literature review
• A case of primary ciliary dyskinesia and abetalipoproteinaemia
• A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte
• A Man With Progressive Chorea and Abnormal Trunk Movements
• A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption
• A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane
• A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia
• Abetalipoproteinemia
• Abetalipoproteinemia
• Abetalipoproteinemia Due to a Novel Splicing Variant in <em>MTTP</em> in 3 Siblings
• Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings
• Acanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification
• Acanthocytes Identified in Huntington's Disease
• Acanthocytosis
• Acanthocytosis
• Acanthocytosis in an alectinib-treated patient
• Acanthocytosis: a key feature for the diagnosis of abetalipoproteinemia
• Acupuncture for treating symptoms associated with chorea-acanthocytosis: A CARE-compliant case report
• Adaptative Up-Regulation of PRX2 and PRX5 Expression Characterizes Brain from a Mouse Model of Chorea-Acanthocytosis
• Amantadine Treatment for Hyperkinetic Movements in Chorea-Acanthocytosis
• An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis)
• Analysis of Brain, Blood, and Testis Phenotypes Lacking the <em>Vps13a</em> Gene in C57BL/6N Mice
• Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome
• Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients
• Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage
• Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene
• Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium
• Changes in Red Cell Morphology and Haematological Laboratory Parameters Associated With Alectinib
• Chorea-acanthocytosis
• Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea
• Chorea-acanthocytosis: 3 New Families with Novel Genetic and Metabolic Findings
• Chorea-acanthocytosis: A Case Report with Review of Oral Manifestations
• Chylomicron retention disease caused by SAR1B gene variations in 2 cases and literatures review
• Commentary: Acanthocytes identified in Huntington's disease
• Compound Heterozygous VPS13A Variants in a Patient with Neuroacanthocytosis: A Case Report and Review of the Literature
• Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions)
• Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A
• Current Diagnosis and Management of Abetalipoproteinemia
• Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1
• Deep brain stimulation for chorea-acanthocytosis: a systematic review
• Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years
• Early Development of Ubiquitous Acanthocytosis and Extravascular Hemolysis in Lung Cancer Patients Receiving Alectinib
• Effect of cryopreservation on a rare McLeod donor red blood cell concentrate
• Effect of rapamycin on lysosomal accumulation in a CRISPR/Cas9-based cellular model of VPS13A deficiency
• Enlarging the clinical spectrum of chorea-acanthocytosis
• Erratum: Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia A Case Study
• Erythroid Differentiation Dependent Interaction of VPS13A with XK at the Plasma Membrane of K562 Cells
• Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins
• Generation of hepatoma cell lines deficient in microsomal triglyceride transfer protein
• Genetic Dissection of Vps13 Regulation in Yeast Using Disease Mutations from Human Orthologs
• Guidance for the diagnosis and treatment of hypolipidemia disorders
• Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
• High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population
• Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature
• Hypotriglyceridemias/hypolipidemias
• I¹²³-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review
• Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc)
• Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options
• Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans
• Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?
• Low cholesterol states: clinical implications and management
• Marked Acanthocytosis Associated With Klipple Trenaunay Syndrom
• McLeod syndrome with a novel XK frameshift mutation: A case report
• Molecular Mechanisms of Sphingolipid Transport on Plasma Lipoproteins
• Nemaline Rods in a Patient of Chorea-Acanthocytosis with a Novel Pathogenic Mutation of VPS13A Gene
• Neuroacanthocytosis
• Neuroacanthocytosis
• Neuroacanthocytosis Syndromes: The Clinical Perspective
• Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene
• Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report
• Orofacial manifestations of chorea-acanthocytosis: case presentation and literature review
• Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data
• Physiological and Pathogenesis Significance of Chorein in Health and Disease
• Preserved VPS13A distribution and expression in Huntington's disease: divergent mechanisms of action for similar movement disorders?
• Proceedings of the Eleventh International Meeting on Neuroacanthocytosis Syndromes
• Proceedings of the Tenth International Meeting on Neuroacanthocytosis Syndromes
• Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design
• Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
• Requirement of Xk and Vps13a for the P2X7-mediated phospholipid scrambling and cell lysis in mouse T cells
• Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7
• Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea-Acanthocytosis
• Successful Nutritional Intervention for an Infant with Abetalipoproteinemia: A Novel Modular Formula (AbetaMF)
• Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease
• The Erythrocyte Sedimentation Rate and Its Relation to Cell Shape and Rigidity of Red Blood Cells from Chorea-Acanthocytosis Patients in an Off-Label Treatment with Dasatinib
• The Role of Chorein Deficiency in Late Spermatogenesis
• Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis
• Treatable Ataxias: How to Find the Needle in the Haystack?
• Two case reports of chorea-acanthocytosis and review of literature
• Unique Genetic Features of Lean NAFLD: A Review of Mechanisms and Clinical Implications
• Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain
• Unusual Presentation of Cow's Milk Protein Allergy
• Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias
• VPS13 Forum Proceedings: XK, XK-Related and VPS13 Proteins in Membrane Lipid Dynamics
• VPS13A and VPS13C Influence Lipid Droplet Abundance
• VPS13A knockdown impairs corticostriatal synaptic plasticity and locomotor behavior in a new mouse model of chorea-acanthocytosis
• XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease
• Yeast as a Model to Find New Drugs and Drug Targets for <em>VPS13</em>-Dependent Neurodegenerative Diseases
• Zebrafish mutants provide insights into Apolipoprotein B functions during embryonic development and pathological conditions