Mini Review
Published on 17 Jul 2024
Duchenne muscular dystrophy in Saudi Arabia: a review of the current literature
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1392274
- 5,277 views
- 4 citations
- Frontiers in Neurology
- Neurogenetics
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337 articles
articles
Original Research
Published on 11 Jul 2024
Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1394150
- 2,231 views
Review
Published on 10 Jul 2024
Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1392984
- 3,346 views
Original Research
Published on 03 Jul 2024
Association of common genetic variants with chronic axonal polyneuropathy in the general population: a genome-wide association study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1422824
- 1,688 views
Review
Published on 03 Jul 2024
Insights into brain tumor diagnosis: exploring in situ hybridization techniques
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1393572
- 5,294 views
- 1 citation
Original Research
Published on 01 Jul 2024
ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1365787
- 2,531 views
Original Research
Published on 21 Jun 2024
Genetics of causal relationships between circulating inflammatory proteins and postherpetic neuralgia: a bidirectional Mendelian randomization study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1405694
- 2,929 views
- 1 citation
Original Research
Published on 19 Jun 2024
Causal relationship of interferon-Îł and interleukin-18 upstream of intervertebral disc degeneration pathogenesis: a two-sample Mendelian randomization study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2024.1420942
- 2,280 views
- 1 citation
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
- 3,106 views
- 1 citation
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
- 2,617 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
- 1,865 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
- 3,434 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
- 2,168 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
- 2,029 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
- 3,185 views
- 2 citations
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
- 3,870 views
- 1 citation
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
- 2,871 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
- 3,089 views
- 5 citations
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
- 2,679 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
- 3,405 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
- 2,291 views
- 1 citation
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
- 2,695 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
- 2,715 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
- 2,881 views
- 4 citations