Case Report
Published on 07 Feb 2020
A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2020.00070
- 5,581 views
- 8 citations
- Frontiers in Neurology
- Neurogenetics
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305 articles
Articles
Original Research
Published on 17 Jan 2020
Four-Year Longitudinal Study of Motor and Non-motor Symptoms in LRRK2-Related Parkinson's Disease
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01379
- 3,202 views
- 4 citations
Case Report
Published on 15 Jan 2020
Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01335
- 6,974 views
- 6 citations
Case Report
Published on 15 Jan 2020
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01331
- 3,064 views
- 5 citations
Original Research
Published on 17 Dec 2019
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01321
- 3,696 views
- 11 citations
Original Research
Published on 13 Dec 2019
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01284
- 6,406 views
- 21 citations
Original Research
Published on 22 Nov 2019
Optical Coherence Tomography in a Cohort of Genetically Defined Hereditary Spastic Paraplegia: A Brief Research Report
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01193
- 2,131 views
- 4 citations
Original Research
Published on 20 Nov 2019
Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2019.01219
- 2,529 views
- 10 citations
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
- 6,428 views
- 8 citations
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
- 2,288 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
- 11,377 views
- 10 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
- 1,475 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
- 3,947 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
- 4,215 views
- 17 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
- 9,205 views
- 30 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
- 4,093 views
- 13 citations