Neurogenetics

Papers
(The TQCC of Neurogenetics is 7. 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 2020-05-01 to 2024-05-01.)
ArticleCitations
Milestones in genetics of cerebellar ataxias19
Oligogenicity, C9orf72 expansion, and variant severity in ALS14
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR13
Spinocerebellar ataxias (SCAs) caused by common mutations13
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations12
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study12
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
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients11
Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain10
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes10
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants10
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants9
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation9
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse9
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures9
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype8
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females7
A novel pathogenic variant in the 3ʹ end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?7
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival7
Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations7
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 patients7
Rare copy number variations of planar cell polarity genes are associated with human neural tube defects7
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