Neurology-Genetics

Papers
(The H4-Index of Neurology-Genetics is 21. 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 2020-04-01 to 2024-04-01.)
ArticleCitations
Late-onset vs nonmendelian early-onset Alzheimer disease82
Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort40
The SPID-GBA study38
Mitochondrial diseases in North America36
ALS in Danish Registries33
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy33
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy32
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders32
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy30
Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan29
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants28
Neurologic outcomes in Friedreich ataxia27
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?26
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue26
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation25
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy24
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes24
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE23
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited22
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants22
APOE ϵ 4 modifies the relationship between infectious burden and poor cognition21
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase21
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy21
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA3421
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