Case Report
Published on 06 Nov 2019
A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01124
- 7,922 views
- 9 citations
- Frontiers in Neurology
- Neurogenetics
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337 articles
articles
Original Research
Published on 15 Oct 2019
Carboxyl Terminus of Hsp70-Interacting Protein Is Increased in Serum and Cerebrospinal Fluid of Patients With Spinocerebellar Ataxia Type 3
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01094
- 3,101 views
- 8 citations
Case Report
Published on 04 Oct 2019
Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01040
- 14,340 views
- 11 citations
Correction
Published on 18 Sep 2019
Addendum: 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.2019.00936
- 1,981 views
- 2 citations
Systematic Review
Published on 18 Sep 2019
Motor Evoked Potentials in Hereditary Spastic Paraplegia—A Systematic Review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00967
- 5,209 views
- 14 citations
Case Report
Published on 04 Sep 2019
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00944
- 5,457 views
- 18 citations
Mini Review
Published on 28 Aug 2019
MEIS1 and Restless Legs Syndrome: A Comprehensive Review
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00935
- 12,107 views
- 39 citations
Original Research
Published on 17 Jul 2019
Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00762
- 4,977 views
- 17 citations
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
- 4,672 views
- 10 citations
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
- 7,293 views
- 17 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
- 3,500 views
- 6 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
- 6,745 views
- 17 citations
Opinion
Published on 22 May 2019
Cathepsin Oxidation Alters Alpha-Synuclein Processing
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.00530
- 3,099 views
- 5 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
- 16,453 views
- 93 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
- 12,283 views
- 35 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
- 3,744 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
- 28,994 views
- 45 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
- 10,686 views
- 10 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
- 4,184 views
- 7 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
- 5,901 views
- 12 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
- 8,508 views
- 7 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
- 6,378 views
- 23 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
- 9,323 views
- 115 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
- 21,408 views
- 40 citations