Neurogenetics

Papers
(The median citation count of Neurogenetics is 6. 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
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 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
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer12
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant10
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review9
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype7
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study7
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation6
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects6
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