Brief Research Report
Published on 22 Aug 2025
Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1643889
- 327 views
- Frontiers in Neurology
- Neurogenetics
- Articles
Type at least 3 characters
321 articles
Review
Accepted on 18 Aug 2025
Riboflavin in Neurological Diseases: Therapeutic Advances, Metabolic Insights, and Emerging Genetic Strategies
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1663136
- 206 views
Methods
Published on 23 Jul 2025
Knowledge mapping of exosomes in ischemic stroke: a bibliometric analysis
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1595379
- 788 views
Original Research
Accepted on 22 Jul 2025
Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1584748
- 298 views
Original Research
Published on 18 Jul 2025
Clinical features, disease burden and impact on quality of life in participants with mitochondrial encephalomyopathy
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1585906
- 699 views
Original Research
Published on 25 Jun 2025
Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1595505
- 950 views
Original Research
Published on 27 May 2025
Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1566740
- 859 views
Review
Published on 21 May 2025
Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1573052
- 1,659 views
Case Report
Published on 17 Apr 2025
Neurocysticercosis detected by targeted next-generation sequencing of cerebrospinal fluid: a case report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1504348
- 1,357 views
Mini Review
Published on 11 Apr 2025
Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1422707
- 2,378 views
- 1 citation
Original Research
Published on 08 Apr 2025
Exploration of the shared gene signatures and molecular mechanisms between cardioembolic stroke and ischemic stroke
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1567902
- 1,632 views
Original Research
Published on 18 Mar 2025
Combined impact of CHCHD10 p.Gly66Val and three other variants suggests oligogenic contributions to ALS
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1438207
- 1,460 views
Mini Review
Published on 12 Feb 2025
Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1522445
- 2,166 views
- 2 citations
Editorial
Published on 10 Feb 2025
Editorial: Consanguinity and rare genetic neurological diseases
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1494253
- 1,619 views
Original Research
Published on 20 Jan 2025
Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1524532
- 1,938 views
- 1 citation
Opinion
Published on 06 Jan 2025
AHDC1/Gibbin: a master regular of chromatin structure and gene transcription
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1388029
- 1,564 views
- 1 citation