The role of gut-derived short-chain fatty acids in Parkinson's disease

2024-9-13

Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)

2024-8-27

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex

2024-8-7

Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India

2024-8-5

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy

2024-8-1

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes

2024-7-27

The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns

2024-7-24

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy

2024-7-18

TREK-1 channel as a therapeutic target for dexmedetomidine-mediated neuroprotection in cerebral ischemia

2024-7-8

Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin

2024-7-8

Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families

2024-7-8

A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders – a systematic review

2024-7-5

Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance

2024-7-3

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients

2024-6-8

Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center

2024-6-7

Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis

2024-5-29

Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability

2024-5-25

Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis

2024-5-22

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders

2024-5-17

Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature

2024-4-23

The Apo gene's genetic variants: hidden role in Asian vascular risk

2024-4-16

Two more families supporting the existence of monogenic spinocerebellar ataxia 48

2024-4-16

Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71

2024-4-15

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation

2024-4-9

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia

2024-3-19

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA

2024-3-18

DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery

2024-3-18

Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy

2024-3-9

Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort

2024-2-22

Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy

2024-2-21

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature

2024-2-9

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families

2024-2-1

A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review

2024-1-29

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A

2024-1-27

Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics

2024-1-22

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy

2024-1-19

GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review

2024-1-8

New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics

2023-12-29

Dem-Aging: autophagy-related pathologies and the “two faces of dementia”

2023-12-20

Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship

2023-12-18

Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns

2023-11-6

Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort

2023-11-2

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities

2023-10-26

Retraction Note: Clinical characterization of familial 1p36.3 microduplication

2023-10-7

A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity

2023-9-5

Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry

2023-9-5

Adult-onset Alexander disease among patients of Jewish Syrian descent

2023-9-2

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light

2023-8-22

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry

2023-8-19

Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene

2023-8-17