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
- 816 views
- 1 citation
- Frontiers in Neurology
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279 articles
Articles
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
- 475 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
- 993 views
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
- 1,165 views
- 1 citation
Editorial
Published on 29 Jan 2024
Editorial: Genetic research into neurodegenerative disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1367627
- 872 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
- 878 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
- 637 views
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
- 1,346 views
Review
Published on 05 Jan 2024
ATP13A2 (PARK9) and basal ganglia function
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1252400
- 2,050 views
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
- 1,335 views
- 1 citation
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
- 1,383 views
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
- 981 views
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
- 969 views
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
- 1,306 views
- 1 citation
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
- 960 views
Case Report
Published on 24 Nov 2023
Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1251467
- 1,421 views