Neurogenetics

Papers
(The TQCC of Neurogenetics is 11. 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
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 families13
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse12
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review12
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations11
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