Mini Review
Published on 17 Jun 2024
Case report: Cerebrotendinous xanthomatosis treatment follow-up
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1409138
- 1,692 views
- 1 citation
- Frontiers in Neurology
- Neurogenetics
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313 articles
Case Report
Published on 12 Jun 2024
Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1352467
- 1,324 views
Original Research
Published on 07 Jun 2024
Patisiran for the treatment of patients with p.Ile88Leu hereditary transthyretin amyloidosis: an Italian real-life experience
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1415851
- 1,098 views
- 1 citation
Original Research
Published on 04 Jun 2024
Early sexual activity lowers the incidence of intracranial aneurysm: a Mendelian randomization investigation
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1349137
- 1,773 views
Case Report
Published on 31 May 2024
Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1344018
- 1,146 views
Case Report
Published on 30 May 2024
Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1289625
- 1,113 views
Original Research
Published on 24 May 2024
The role of digestive system diseases in cerebrovascular disease: a comprehensive Mendelian randomization study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1389352
- 2,099 views
Brief Research Report
Published on 15 May 2024
Alzheimer’s disease and oral manifestations: a bi-directional Mendelian randomization study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1391625
- 2,447 views
Original Research
Published on 09 May 2024
Association between human blood metabolites and cerebral cortex architecture: evidence from a Mendelian randomization study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1386844
- 2,000 views
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
- 1,762 views
- 1 citation
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
- 1,511 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
- 1,985 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
- 1,351 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
- 1,495 views
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
- 1,612 views
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
- 1,643 views
- 1 citation