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Neurogenetic Disorders

Neurogenetic Disorders diagram by 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

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

Massively parallel disruption of enhancers active during human corticogenesis

bioRxivDecember 2, 2019
Evan T GellerJames P. Noonan
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
Scientific Reports

Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Scientific ReportsNovember 29, 2019
Jinliang LiYu-wu Jiang
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
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

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

EpilepsiaDecember 2, 2019
Sharon C ChiangJohn M Stern

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
Brain Research

Gene therapy approaches targeting Schwann cells for demyelinating neuropathies

Brain ResearchNovember 29, 2019
Irene SargiannidouKleopas A Kleopa

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

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

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