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 2020-10-01 to 2024-10-01.)
ArticleCitations
Milestones in genetics of cerebellar ataxias21
Spinocerebellar ataxias (SCAs) caused by common mutations16
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study14
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR13
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse12
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations12
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
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants12
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes11
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants11
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation10
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