Feed Preview

Neurogenetic Disorders

Neurogenetic Disorders diagram by Jensflorian
Jensflorian

Neurogenetic disorders are caused by a defect in one or more genes affecting the differentiation and function of the neuroectoderm and its derivatives. Here is the latest research on neurogenetic disorders

Top 20 most recent papers
Annals of Neurology

ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy

Annals of NeurologyDecember 3, 2019
Rocio Nur Villar-QuilesAna Ferreiro
bioRxiv

17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease and progressive supranuclear palsy converge on altered glial regulation

bioRxivNovember 30, 2019
Kathryn R BowlesAlison M. Goate
13
bioRxiv

Massively parallel disruption of enhancers active during human corticogenesis

bioRxivDecember 2, 2019
Evan T GellerJames P. Noonan
22
The Journal of Clinical Investigation

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

The Journal of Clinical InvestigationDecember 3, 2019
Lin Lin LiXiang-Jiao Yang
3
Scientific Reports

Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Scientific ReportsNovember 29, 2019
Jinliang LiYu-wu Jiang
1
American Journal of Human Genetics

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

American Journal of Human GeneticsNovember 25, 2019
Julia WangPhilippe M. Campeau
3
Neuromuscular Disorders : NMD

The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

Neuromuscular Disorders : NMDNovember 6, 2019
Louise BenarrochDalil Hamroun
Journal of Molecular Biology

Structural fuzziness of the RNA-organizing protein SERF determines a toxic gain-of-interaction

Journal of Molecular BiologyNovember 30, 2019
N Helge MeyerSalvatore Fabio Falsone
Epilepsia

Prospective validation study of an epilepsy seizure risk system for outpatient evaluation

EpilepsiaDecember 2, 2019
Sharon C ChiangJohn M Stern
AIDS

Symptomatic cerebrospinal fluid escape

AIDSDecember 1, 2019
Andrea MastrangeloPaola Cinque
Annals of Clinical and Translational Neurology

Severe white matter damage in SHANK3 deficiency: a human and translational study

Annals of Clinical and Translational NeurologyDecember 2, 2019
Sarah JesseJan Kassubek
2
Brain Research

Gene therapy approaches targeting Schwann cells for demyelinating neuropathies

Brain ResearchNovember 29, 2019
Irene SargiannidouKleopas A Kleopa
Neurosurgery

Risk Factors for Seizure Worsening After Epilepsy Surgery in Children and Adults: A Population-Based Register Study

NeurosurgeryDecember 3, 2019
Johan BjellviKristina Malmgren
Aging and Disease

The Potential Markers of Circulating microRNAs and long non-coding RNAs in Alzheimer's Disease

Aging and DiseaseDecember 1, 2019
Yan-fang ZhaoLiang Shen
Pathophysiology : the Official Journal of the International Society for Pathophysiology

Wi-Fi decreases melatonin protective effect and increases hippocampal neuronal damage in pentylenetetrazole induced model seizures in rats

Pathophysiology : the Official Journal of the International Society for PathophysiologyNovember 21, 2019
Recep AkkayaAhmet Şevki Taşkıran
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society

Genotype-phenotype correlation on 45 individuals with West syndrome

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology SocietyNovember 26, 2019
Ilona KreyJohannes R. Lemke
Functional & Integrative Genomics

A transcriptomic analysis of Nsmce1 overexpression in mouse hippocampal neuronal cell by RNA sequencing

Functional & Integrative GenomicsDecember 2, 2019
Mengting GongKan He
The American Journal of Dermatopathology

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature

The American Journal of DermatopathologyNovember 26, 2019
Christina RohdenburgJoerg Schaller
Expert Review of Clinical Pharmacology

Cognitive impairment with diabetes mellitus and metabolic disease: innovative insights with the mechanistic target of rapamycin and circadian clock gene pathways

Expert Review of Clinical PharmacologyDecember 3, 2019
Kenneth Maiese
1
Neuroscience

Alteration of Gene Associated with Retinoid-interferon-induced Mortality-19-expressing Cell Types in the Mouse Hippocampus Following Pilocarpine-induced Status Epilepticus

NeuroscienceNovember 29, 2019
Jae-Cheon KimSeong Yun Kim

See more papers from this feed

Related Feeds

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Cognitive Decline: Environmental And Genetic Factors

This feed focuses on the role of environmental and genetic factors including environmental policies, disease susceptibility, and socioeconomic status on cognitive decline. Here is the latest research.

Epigenetic Changes in Pain

Targeted epigenetic interventions provide the tools to prevent nociceptive sensitization, mood-related symptoms, and other adaptations that occur in response to injury or inflammation, which will facilitate pain management and improve treatment efficacy in many chronic pain conditions. Here is the latest research on the epigenetics changes in pain.

Epigenetic Regulation of Microglia Functions

Microglial cells are instrumental in the maintenance of homeostasis in the CNS and can contribute to neurodegenerative disorders. Epigenetic mechanisms and transcriptional regulation may be potential therapeutic targets for their activation or suppression. Discover the latest research on epigenetic regulation of microglial functions here.

Gene-Environment Interaction & Behaviour

Gene-environment interaction is when two different genotypes respond to environmental variation in different ways.Genes and environment interact to form an individual's personality. Abnormal or extreme behaviour could thus be explained by hereditary factors in combination with poor environmental conditions.

Genetic Influences on Brain Development

The genetic landscape of an individual can have drastic effects on brain development and brain developmental disorders. Discover the latest research here.

Genetic Networks Underlying Habituation

Habituation, the gradual waning of an evoked behavioral response with repeated stimulation, is a basic and universal form of learning. This feed explores the genetic networks that are involved in the occurence of habituation.

Genetic Screens in iPSC-Derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.

Genetics of Pain

Subtle changes in DNA could partly explain the variation in individual differences in pain. There is growing evidence that a number of genes play a critical role in determining pain sensitivity, pain reporting and susceptibility to developing chronic pain and their response to surgical outcomes primarily, pain.

Immunogenetics of CNS Tumors

Central nervous system (CNS) tumors have a unique tumor immune microenvironment, where immune cells can play a role in disease progression and resistance to therapy. Studying the immunogenetics of these cells can uncover mechanisms underlying their role in CNS tumors. Here is the latest research.

© 2019 Meta ULC. All rights reserved
/feed-previews/neurogenetic-disorders/9acaafd8-884f-4f6d-a737-fd99208a9ddb