Original Research
Published on 21 Oct 2021
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.738272
- 8,868 views
- 15 citations
- Frontiers in Neurology
- Neurogenetics
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337 articles
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Case Report
Published on 27 Sep 2021
Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.735549
- 8,782 views
- 12 citations
Review
Published on 22 Sep 2021
Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.648588
- 12,194 views
- 56 citations
Correction
Published on 08 Sep 2021
Corrigendum: HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.756038
- 1,606 views
Editorial
Published on 23 Aug 2021
Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.743953
- 2,067 views
Original Research
Published on 20 Aug 2021
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.720201
- 7,268 views
- 8 citations
Study Protocol
Published on 09 Aug 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.710572
- 6,614 views
- 6 citations
Brief Research Report
Published on 09 Aug 2021
Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.706145
- 11,102 views
- 28 citations
Brief Research Report
Published on 04 Aug 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.656342
- 6,764 views
- 6 citations
Case Report
Published on 02 Aug 2021
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.522513
- 4,559 views
- 5 citations
Editorial
Published on 22 Jul 2021
Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.711288
- 3,622 views
- 5 citations
Editorial
Published on 07 Jul 2021
Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.712010
- 2,565 views
- 3 citations
Mini Review
Published on 24 Jun 2021
Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.694764
- 15,009 views
- 63 citations
Review
Published on 22 Jun 2021
Genetic Defects and Pro-inflammatory Cytokines in Parkinson's Disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.636139
- 10,301 views
- 43 citations
Case Report
Published on 17 Jun 2021
Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.585606
- 3,631 views
- 2 citations
Review
Published on 14 Jun 2021
Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.681369
- 10,636 views
- 18 citations
Original Research
Published on 11 Jun 2021
High PYGL Expression Predicts Poor Prognosis in Human Gliomas
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.652931
- 5,846 views
- 19 citations
Original Research
Published on 10 Jun 2021
A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.675616
- 4,496 views
- 9 citations
Original Research
Published on 19 May 2021
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.627531
- 5,384 views
- 5 citations
Original Research
Published on 19 May 2021
Novel Optineurin Frameshift Insertion in a Family With Frontotemporal Dementia and Parkinsonism Without Amyotrophic Lateral Sclerosis
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.645913
- 5,116 views
- 10 citations
Original Research
Published on 19 May 2021
Down-Regulation of Inpp5e Associated With Abnormal Ciliogenesis During Embryonic Neurodevelopment Under Inositol Deficiency
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.579998
- 4,609 views
- 8 citations
Original Research
Published on 07 May 2021
MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.648740
- 7,815 views
- 19 citations
Original Research
Published on 05 May 2021
Circulating hsa-miR-323b-3p in Huntington's Disease: A Pilot Study
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.657973
- 4,424 views
- 18 citations
Original Research
Published on 04 May 2021
The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.624321
- 5,787 views
- 24 citations