Neurology-Genetics

Papers
(The H4-Index of Neurology-Genetics is 18. 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 2021-02-01 to 2025-02-01.)
ArticleCitations
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices38
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations36
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease30
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans28
Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy27
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 226
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex25
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy23
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke22
Identification of Sex-Specific Genetic Variants Associated With Tau PET21
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability21
Spinocerebellar Ataxia Type 221
Somatic Variants in SVIL in Cerebral Aneurysms21
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant20
Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous Malformations20
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis19
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia18
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy18
Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP18
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features18
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia18
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis18
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