ORIGINAL RESEARCH
Published on 11 Dec 2024
Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome
doi 10.3389/fnins.2024.1488133
- 424 views
- Frontiers in Neuroscience
- Neurodegeneration
- Research Topics
- Progress in Neuroacanthocytosis Syndromes and Related Diseases Including other Bulk Lipid Transfer Disorders
Progress in Neuroacanthocytosis Syndromes and Related Diseases Including other Bulk Lipid Transfer Disorders
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Articles
CASE REPORT
Published on 02 Oct 2024
Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry
doi 10.3389/fnins.2024.1409366
- 623 views
ORIGINAL RESEARCH
Published on 09 Sep 2024
The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families
doi 10.3389/fnins.2024.1408105
- 773 views
CASE REPORT
Published on 21 Aug 2024
Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome
doi 10.3389/fgene.2024.1421952
- 877 views
CASE REPORT
Published on 25 Jul 2024
A case of chorea-acanthocytosis with significant improvement of symptoms at one year with deep brain stimulation: case report and literature review
doi 10.3389/fneur.2024.1377377
- 796 views
BRIEF RESEARCH REPORT
Published on 18 Jul 2024
Osmotic gradient ektacytometry – a novel diagnostic approach for neuroacanthocytosis syndromes
doi 10.3389/fnins.2024.1406969
- 923 views
- 1 citation
MINI REVIEW
Published on 01 Jul 2024
Exploring the pathological mechanisms underlying Cohen syndrome
doi 10.3389/fnins.2024.1431400
- 1,596 views
- 3 citations
BRIEF RESEARCH REPORT
Published on 05 Jun 2024
Preserved VPS13A distribution and expression in Huntington’s disease: divergent mechanisms of action for similar movement disorders?
doi 10.3389/fnins.2024.1394478
- 910 views
- 1 citation
PERSPECTIVE
Published on 14 Dec 2023
Pharmacological interventions for lipid transport disorders
doi 10.3389/fnins.2023.1321250
- 1,396 views
Published in
Frontiers in Neuroscience
Neurodegeneration
Participating Journals
Frontiers in Neurology
- 2.7 impact factor
- 4.9 citescore