Disease: Acanthocytosis
- "Neuroacanthocytosis" - Overdue for a Taxonomic Update
- 17β-Estradiol-Induced Conformational Changes of Human Microsomal Triglyceride Transfer Protein: A Computational Molecular Modelling Study
- 2019 George Lyman Duff Memorial Lecture: Three Decades of Examining DNA in Patients With Dyslipidemia
- A Case of Chorea-Acanthocytosis with FDG PET/CT Imaging
- A case of primary ciliary dyskinesia and abetalipoproteinaemia
- A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte
- A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases
- 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
- Alectinib induces marked red cell spheroacanthocytosis in a near-ubiquitous fashion and is associated with reduced eosin-5-maleimide binding
- Amantadine Treatment for Hyperkinetic Movements in Chorea-Acanthocytosis
- An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis)
- 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: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A
- 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
- 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
- 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
- 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
- Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature
- Hypotriglyceridemias/hypolipidemias
- I<sup>123</sup>-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)
- Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia - A Case Study
- 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 in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
- Neuroacanthocytosis Syndromes: The Clinical Perspective
- Neurofilament light chain in serum is significantly increased in chorea-acanthocytosis
- New Classification and Management of Abetalipoproteinemia and Related Disorders
- 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
- 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
- The Vps13 Family of Lipid Transporters and Its Role at Membrane Contact Sites
- 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 is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome
- 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