Original Research
Accepted on 08 Dec 2025
LAMA2 variants associated with Muscular Dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study
in Neurogenetics
Frontiers in Neurology
- 108 views
- Frontiers in Neurology
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337 articles
articles
Review
Published on 01 Dec 2025
IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1695128
- 468 views
Brief Research Report
Accepted on 27 Nov 2025
Renpenning Syndrome Caused by c.459_462delAGAG Mutation of polyglutamine-bingding protein 1 and review of the literature
in Neurogenetics
Frontiers in Neurology
- 114 views
Brief Research Report
Published on 27 Nov 2025
Retropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1680208
- 501 views
Original Research
Published on 26 Nov 2025
Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1729387
- 726 views
Correction
Published on 10 Nov 2025
Correction: Exploring the causal relationship between plasma proteins and postherpetic neuralgia: a Mendelian randomization study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1726757
- 548 views
Systematic Review
Published on 06 Nov 2025
Accelerated biological aging based on DNA methylation clocks is a predictor of stroke occurrence: a systematic review and meta-analysis
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1640853
- 989 views
Original Research
Published on 31 Oct 2025
Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1623314
- 1,970 views
Editorial
Published on 21 Oct 2025
Editorial: Genetic insights and diagnostic innovations in cerebrovascular and cerebrospinal fluid disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1691759
- 1,467 views
Original Research
Published on 15 Oct 2025
The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1641665
- 2,111 views
Original Research
Published on 15 Oct 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1574021
- 1,038 views
Original Research
Published on 09 Oct 2025
Exploring the causal relationship between plasma proteins and postherpetic neuralgia: a Mendelian randomization study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1575941
- 2,034 views
Review
Published on 02 Oct 2025
Clinical characteristics, molecular mechanisms, and exploration of association with gastrointestinal symptoms in CHAMP1 gene variation-related neurodevelopmental disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1664776
- 2,377 views
Review
Published on 22 Sep 2025
Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1662931
- 2,548 views
- 1 citation
Review
Published on 12 Sep 2025
CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1662012
- 3,002 views
Original Research
Published on 10 Sep 2025
Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1661707
- 2,513 views
Review
Published on 02 Sep 2025
Riboflavin in neurological diseases: therapeutic advances, metabolic insights, and emerging genetic strategies
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2025.1663136
- 5,224 views
Original Research
Published on 01 Sep 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
- 2,073 views
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
- 1,537 views
- 1 citation
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
- 1,883 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
- 1,230 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
- 2,004 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
- 1,389 views
- 1 citation
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
- 2,965 views
- 1 citation