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
- 2,300 views
- 1 citation
- Frontiers in Neurology
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305 articles
Articles
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
- 1,930 views
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
- 1,957 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
- 1,558 views
- 1 citation
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
- 18,785 views
- 8 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
- 1,221 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
- 1,427 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
- 2,091 views
Case Report
Published on 22 Jun 2023
Honokiol in glioblastoma recurrence: a case report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1172860
- 2,471 views
- 3 citations
Correction
Published on 15 Jun 2023
Corrigendum: Clinical and genetic analysis of Costa Rican patients with Parkinson's disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1227084
- 1,046 views
Case Report
Published on 15 Jun 2023
Older adult-onset Alexander disease with atypical clinicoradiological features: a case report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1139047
- 2,437 views
- 1 citation
Brief Research Report
Published on 09 Jun 2023
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1212079
- 2,192 views
- 2 citations
Case Report
Published on 01 Jun 2023
Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1161940
- 2,440 views
Original Research
Published on 25 May 2023
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1168307
- 4,233 views
- 5 citations
Original Research
Published on 18 May 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1170005
- 3,642 views
- 2 citations
Original Research
Published on 17 May 2023
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2023.1169689
- 4,436 views
- 10 citations