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 2021-05-01 to 2025-05-01.)
ArticleCitations
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants28
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia21
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients18
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene18
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study15
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype15
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families13
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review12
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse12
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations11
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer10
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