Original Research
Published on 14 Jun 2019
Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00562
- 3,563 views
- 6 citations
- Frontiers in Neurology
- Neurogenetics
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305 articles
Articles
Case Report
Published on 05 Jun 2019
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00580
- 6,195 views
- 14 citations
Case Report
Published on 29 May 2019
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00555
- 2,718 views
- 5 citations
Original Research
Published on 24 May 2019
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00508
- 5,324 views
- 14 citations
Opinion
Published on 22 May 2019
Cathepsin Oxidation Alters Alpha-Synuclein Processing
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00530
- 2,356 views
- 2 citations
Original Research
Published on 21 May 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00434
- 13,475 views
- 78 citations
Original Research
Published on 14 May 2019
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00505
- 9,827 views
- 30 citations
Original Research
Published on 08 May 2019
Genetic Variants of PICALM rs541458 Modulate Brain Spontaneous Activity in Older Adults With Amnestic Mild Cognitive Impairment
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00494
- 2,909 views
- 16 citations
Perspective
Published on 30 Apr 2019
Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00453
- 25,913 views
- 37 citations
Case Report
Published on 24 Apr 2019
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00411
- 8,490 views
- 9 citations
Case Report
Published on 24 Apr 2019
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00413
- 3,234 views
- 6 citations
Case Report
Published on 18 Apr 2019
A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00347
- 4,722 views
- 11 citations
Case Report
Published on 06 Feb 2019
Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00070
- 7,257 views
- 6 citations
Case Report
Published on 31 Jan 2019
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00038
- 5,091 views
- 20 citations
Original Research
Published on 11 Dec 2018
A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2018.01021
- 7,166 views
- 93 citations
Mini Review
Published on 03 Dec 2018
Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2018.01016
- 18,250 views
- 35 citations