Brief Research Report
Published on 03 Jun 2022
Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.841934
- 2,277 views
- 5 citations
- Frontiers in Neurology
- Neurogenetics
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304 articles
Articles
Review
Published on 02 Jun 2022
Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.764917
- 3,469 views
- 7 citations
Original Research
Published on 27 May 2022
Rare and Common Variants in COL4A1 in Chinese Patients With Intracerebral Hemorrhage
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.827165
- 1,928 views
- 1 citation
Original Research
Published on 27 May 2022
The Gain-of-Function R222S Variant in Scn11a Contributes to Visceral Hyperalgesia and Intestinal Dysmotility in Scn11aR222S/R222S Mice
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.856459
- 2,195 views
- 3 citations
Case Report
Published on 26 May 2022
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.853918
- 2,411 views
- 1 citation
Original Research
Published on 06 May 2022
The Clinical and Polynucleotide Repeat Expansion Analysis of ATXN2, NOP56, AR and C9orf72 in Patients With ALS From Mainland China
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.811202
- 2,793 views
- 3 citations
Original Research
Published on 28 Apr 2022
Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.872927
- 3,770 views
- 6 citations
Original Research
Published on 18 Apr 2022
Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.836954
- 2,666 views
- 11 citations
Original Research
Published on 08 Apr 2022
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.844595
- 2,817 views
- 3 citations
Case Report
Published on 04 Apr 2022
A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.795514
- 2,780 views
- 3 citations
Case Report
Published on 25 Mar 2022
Case Report: Late-Onset Mitochondrial Disease Uncovered by Metformin Use in a Patient With Acute Verbal Auditory Agnosia
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.863047
- 4,511 views
- 11 citations
Case Report
Published on 21 Mar 2022
A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.845318
- 2,317 views
- 2 citations
Original Research
Published on 10 Mar 2022
Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.834252
- 2,445 views
- 6 citations
Case Report
Published on 11 Feb 2022
Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.807291
- 2,932 views
- 9 citations
Brief Research Report
Published on 28 Jan 2022
One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.736704
- 3,327 views
- 4 citations
Case Report
Published on 14 Jan 2022
Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.796283
- 2,173 views
- 3 citations