BRIEF RESEARCH REPORT
Published on 22 Nov 2024
A novel SBF1 missense mutation causes autosomal dominant Charcot–Marie–Tooth disease type 4B3
doi 10.3389/fneur.2024.1495711
- 314 views
- Frontiers in Neurology
- Neurogenetics
- Research Topics
- Genetics in Rare Neurological Diseases: From Discovery to Targeted Treatment
Genetics in Rare Neurological Diseases: From Discovery to Targeted Treatment
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Articles
BRIEF RESEARCH REPORT
Published on 08 Nov 2024
Clinical characteristics of patients with P4HTM variant-associated epilepsy and therapeutic exploration: a case report and literature review
doi 10.3389/fneur.2024.1428076
- 361 views
OPINION
Published on 21 Oct 2024
AHDC1/Gibbin: a master regular of chromatin structure and gene transcription
doi 10.3389/fneur.2024.1388029
- 122 views
ORIGINAL RESEARCH
Published on 04 Oct 2024
Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis
doi 10.3389/fneur.2024.1400989
- 604 views
BRIEF RESEARCH REPORT
Published on 25 Sep 2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
doi 10.3389/fneur.2024.1455467
- 501 views
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
doi 10.3389/fneur.2024.1352467
- 586 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
doi 10.3389/fneur.2023.1316933
- 1,616 views
METHODS
Published on 16 Nov 2023
Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy
doi 10.3389/fneur.2023.1282059
- 1,523 views
- 1 citation
CASE REPORT
Published on 09 Nov 2023
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I
doi 10.3389/fneur.2023.1266686
- 938 views
CASE REPORT
Published on 26 Oct 2023
Case report: Episodic ataxia without ataxia?
doi 10.3389/fneur.2023.1224241
- 1,015 views
BRIEF RESEARCH REPORT
Published on 20 Sep 2023
Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript
doi 10.3389/fneur.2023.1241195
- 1,782 views
- 2 citations
Published in
Frontiers in Neurology
- Neurogenetics
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- 13kTopic views
- 8,200Article views
- 3,326Article downloads