Original Research
Published on 19 Apr 2024
A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1372507
- 2,304 views
- 3 citations
- Frontiers in Neurology
- Neurogenetics
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272 articles
Case Report
Published on 18 Apr 2024
A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1349861
- 2,073 views
Case Report
Published on 15 Apr 2024
AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1376643
- 2,664 views
Case Report
Published on 08 Apr 2024
Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1347289
- 1,759 views
Brief Research Report
Published on 21 Mar 2024
Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1341864
- 2,041 views
- 1 citation
Case Report
Published on 20 Mar 2024
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1362013
- 2,104 views
- 1 citation
Original Research
Published on 14 Mar 2024
POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1355484
- 2,203 views
- 1 citation
Case Report
Published on 28 Feb 2024
Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1319962
- 1,666 views
Original Research
Published on 14 Feb 2024
Causal association between depression and intracranial aneurysms: a bidirectional two-sample Mendelian randomization study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1346703
- 2,359 views
- 2 citations
Case Report
Published on 06 Feb 2024
Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1339642
- 2,493 views
- 1 citation
Correction
Published on 05 Feb 2024
Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1360347
- 966 views
- 1 citation
Case Report
Published on 01 Feb 2024
Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1258831
- 2,462 views
- 1 citation
Original Research
Published on 31 Jan 2024
Assessing the impact of novel risk loci on Alzheimer’s and Parkinson’s diseases in a Chinese Han cohort
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1326692
- 2,650 views
- 2 citations
Editorial
Published on 29 Jan 2024
Editorial: Genetic research into neurodegenerative disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1367627
- 1,598 views
Case Report
Published on 24 Jan 2024
The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1272802
- 2,126 views
Case Report
Published on 24 Jan 2024
A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1343025
- 2,013 views
- 2 citations