Neurogenetics

Papers
(The TQCC 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 2021-04-01 to 2025-04-01.)
ArticleCitations
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study26
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants20
Welcoming articles on genotype-dependent clinical features and diagnostics18
Acknowledgement to referees 2020/202117
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation15
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype14
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer12
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants12
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families11
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation10
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review10
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