Neurology-Genetics

Papers
(The H4-Index of Neurology-Genetics is 19. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-04-01 to 2025-04-01.)
ArticleCitations
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices42
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations36
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans34
Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy33
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex32
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy30
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke28
Identification of Sex-Specific Genetic Variants Associated With Tau PET27
Spinocerebellar Ataxia Type 226
Involvement of the Superior Cerebellar Peduncles in GAA- FGF14 Ataxia25
Somatic Variants in SVIL in Cerebral Aneurysms25
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability24
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features24
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant23
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk23
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis22
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis21
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy20
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia19
Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP19
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