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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
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
Aminoacyl-tRNA synthetases (ARSs) aminoacylate tRNA molecules with their cognate amino acid, enabling information transmis...
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
Developmental and epileptic encephalopathy (DEEs) (OMIM#618,328) is characterized by seizures, hypotonia, and brain abnorm...
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised...
The Apo gene's genetic variants: hidden role in Asian vascular risk
The Apo gene's genetic variants: hidden role in Asian vascular risk
Vascular risk factors, including diabetes, hypertension, hyperlipidemia, and obesity, pose significant health threats with...
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with fro...
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
Mannosyl-oligosaccharide glucosidase – congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mu...
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~&...
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
Twin and family studies have established the genetic contribution to idiopathic generalized epilepsy (IGE). The genetic ar...
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Epilepsy is a complex genetic disorder that affects about 2% of the global population. Although the frequency and severity...
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper mo...
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and mot...
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders...
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Disease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC...
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk factors. To gain further insight i...
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
Glucose transporter type 1 deficiency syndrome (GLUT-1DS) is characterized by alterations in glucose translocation through...
New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
With the start of a new year we, Prof. Geraldine Zimmer–Bensch and Dr. Silvia De Rube...
Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
Neuronal ceroid lipofuscinosis (NCL) is an umbrella term referring to the most frequent childhood-onset neurodegenerative ...
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (A...
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Sphingomyelin phosphodiesterase 4 (SMPD4) encodes a member of the Mg2+-dependent, neutral sphingomyelinase family that cat...
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
Synaptotagmin-1 (SYT1) plays a pivotal role in regulating presynaptic processes, including neurotransmitter release. SYT1 ...
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36.3 microduplications have rarely been re...
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Myelin Disorders Clinic, Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Tehran ...
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
Intellectual disability (ID), occurring in syndromic or non-syndromic forms, is the most common neurodevelopmental disorde...
Adult-onset Alexander disease among patients of Jewish Syrian descent
Adult-onset Alexander disease among patients of Jewish Syrian descent
Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by heterozygous mutations in the glial fibrilla...
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Charcot-Marie-Tooth disease (CMT) is a heterogeneous set of hereditary neuropathies whose genetic causes are not fully und...
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involv...
Clinical and functional study of two de novo variations of CDKL5 gene
Clinical and functional study of two de novo variations of CDKL5 gene
The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is associated with type 2 developmental...
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Both, recessive (LGMD R1) and dominant (LGMD D4) inheritance occur in calpain 3-related muscular dystrophy. We report a fa...
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