Case Report
Published on 29 Aug 2022
Case report: Phenotype expansion and analysis of TRIO and CNKSR2 variations
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.948877
- 2,541 views
- Frontiers in Neurology
- Neurogenetics
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305 articles
Articles
Case Report
Published on 24 Aug 2022
Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.984866
- 3,298 views
- 3 citations
Review
Published on 12 Aug 2022
Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.971252
- 6,611 views
- 14 citations
Original Research
Published on 11 Aug 2022
Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.945280
- 2,967 views
- 2 citations
Case Report
Published on 11 Aug 2022
Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.927823
- 1,419 views
Original Research
Published on 10 Aug 2022
Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.952493
- 3,615 views
- 9 citations
Original Research
Published on 02 Aug 2022
Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.907228
- 5,567 views
- 7 citations
Case Report
Published on 01 Aug 2022
The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.874613
- 3,183 views
- 3 citations
Original Research
Published on 26 Jul 2022
Molecular and clinical characteristics of ATP1A3-related diseases
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.924788
- 4,316 views
- 5 citations
Brief Research Report
Published on 25 Jul 2022
The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.928493
- 3,709 views
- 2 citations
Original Research
Published on 13 Jul 2022
Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.922528
- 2,551 views
- 4 citations
Original Research
Published on 06 Jul 2022
Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.904027
- 2,493 views
- 4 citations
Original Research
Published on 05 Jul 2022
Delayed Diagnosis of Wilson's Disease Report From 179 Newly Diagnosed Cases in China
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.884840
- 4,512 views
- 8 citations
Case Report
Published on 05 Jul 2022
Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.935604
- 4,856 views
- 1 citation
Case Report
Published on 16 Jun 2022
Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.813032
- 2,130 views
- 1 citation
Original Research
Published on 10 Jun 2022
Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.899644
- 3,724 views
- 3 citations