Neurogenetics

Papers
(The TQCC of Neurogenetics is 13. 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 2021-07-01 to 2025-07-01.)
ArticleCitations
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants30
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 patients20
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene18
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype15
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study15
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families14
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations13
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse13
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