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 2022-06-01 to 2026-06-01.)
ArticleCitations
The Second Decade of Neurology® Genetics Beckons75
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans51
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy41
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease40
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics36
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE32
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex30
Complex 4q35 and 10q26 Rearrangements29
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts27
Paroxysmal Ataxia22
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases22
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change21
Proceedings of the 28th International Stroke Genetics Consortium Workshop21
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene20
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 218
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach17
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria17
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome17
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R917
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