Neurology-Genetics

Papers
(The H4-Index of Neurology-Genetics is 17. 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 2022-05-01 to 2026-05-01.)
ArticleCitations
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics74
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease50
The Second Decade of Neurology® Genetics Beckons41
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans39
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE33
Paroxysmal Ataxia32
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts29
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases27
Complex 4q35 and 10q26 Rearrangements27
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy22
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex21
Proceedings of the 28th International Stroke Genetics Consortium Workshop20
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome20
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R919
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis18
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria17
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia17
PRRT 2 -Related Epilepsy17
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 217
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