Neurogenetics

Papers
(The TQCC of Neurogenetics is 9. 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 2020-11-01 to 2024-11-01.)
ArticleCitations
Milestones in genetics of cerebellar ataxias21
Spinocerebellar ataxias (SCAs) caused by common mutations16
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study14
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR13
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review12
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants12
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse12
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations12
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes11
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants11
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation10
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype9
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 patients9
0.024359941482544