Editorial
Published on 20 Sep 2023
Editorial: Genetic advances and translational applications in movement disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1280958
- 1,075 views
- Frontiers in Neurology
- Neurogenetics
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313 articles
Articles
Brief Research Report
Published on 18 Sep 2023
Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1228218
- 1,989 views
Original Research
Published on 15 Sep 2023
Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1096969
- 2,688 views
- 2 citations
Case Report
Published on 14 Sep 2023
A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1235909
- 2,404 views
Case Report
Published on 13 Sep 2023
SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1242472
- 1,896 views
Review
Published on 07 Sep 2023
Circuit-level theories for sensory dysfunction in autism: convergence across mouse models
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1254297
- 5,819 views
- 12 citations
Case Report
Published on 24 Aug 2023
A patient with MELAS syndrome combined with autoimmune abnormalities: a case report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1239664
- 3,063 views
- 1 citation
Original Research
Published on 24 Aug 2023
The causal relationship between genetically determined telomere length and meningiomas risk
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1178404
- 3,936 views
- 2 citations
Original Research
Published on 23 Aug 2023
Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1231605
- 2,225 views
- 1 citation
Original Research
Published on 23 Aug 2023
Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1241678
- 2,631 views
- 1 citation
Case Report
Published on 03 Aug 2023
Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1187813
- 2,226 views
- 1 citation
Case Report
Published on 26 Jul 2023
Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1228810
- 1,853 views
- 3 citations
Review
Published on 26 Jul 2023
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1219324
- 22,293 views
- 10 citations
Case Report
Published on 20 Jul 2023
Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1199095
- 1,382 views
- 2 citations
Editorial
Published on 12 Jul 2023
Editorial: Neurogenetic disorders: from the tests to the clinic
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1236350
- 1,566 views
- 1 citation
Original Research
Published on 05 Jul 2023
Role of gender and age in features of Wilson’s disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1176946
- 2,371 views
- 2 citations