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
- 3,325 views
- 5 citations
- Frontiers in Neurology
- Neurogenetics
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344 articles
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
- 2,851 views
- 1 citation
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
- 3,676 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
- 2,507 views
- 2 citations
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
- 2,906 views
- 2 citations
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
- 2,989 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
- 3,051 views
- 4 citations
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
- 2,439 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
- 2,927 views
- 4 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
- 3,473 views
- 2 citations
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
- 1,317 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
- 3,203 views
- 2 citations
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
- 3,298 views
- 3 citations
Editorial
Published on 29 Jan 2024
Editorial: Genetic research into neurodegenerative disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1367627
- 2,127 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
- 3,214 views
- 2 citations
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
- 2,828 views
- 4 citations
Original Research
Published on 12 Jan 2024
Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1316933
- 5,553 views
- 4 citations
Review
Published on 05 Jan 2024
ATP13A2 (PARK9) and basal ganglia function
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1252400
- 7,715 views
- 11 citations
Mini Review
Published on 21 Dec 2023
Neuroimaging in PRUNE1 syndrome: a mini-review of the literature
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1301147
- 5,796 views
- 3 citations
Original Research
Published on 14 Dec 2023
The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1298569
- 7,689 views
- 12 citations
Case Report
Published on 12 Dec 2023
Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1308289
- 4,140 views
- 4 citations
Original Research
Published on 07 Dec 2023
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1296924
- 3,546 views
- 3 citations
Case Report
Published on 05 Dec 2023
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1284339
- 3,337 views
- 7 citations
Case Report
Published on 01 Dec 2023
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1292320
- 3,402 views
- 2 citations