Neurogenetics

Papers
(The H4-Index of Neurogenetics is 10. 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 2020-03-01 to 2024-03-01.)
ArticleCitations
Milestones in genetics of cerebellar ataxias18
Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease13
Spinocerebellar ataxias (SCAs) caused by common mutations13
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder12
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR12
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review12
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study12
Oligogenicity, C9orf72 expansion, and variant severity in ALS12
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations11
Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain10
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