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Neurogenetic Disorders

Neurogenetic Disorders diagram by Jensflorian, Wikimedia
Jensflorian, Wikimedia

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
American Journal of Human Genetics

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

American Journal of Human GeneticsMarch 30, 2020
Tiong Yang TanMary A O'Connell

DNA Methylation in the Diagnosis of Monogenic Diseases

GenesApril 1, 2020
Flavia CerratoAndrea Riccio
Human Mutation

CACNA1H variants are not a cause of monogenic epilepsy

Human MutationApril 1, 2020
Jeffrey D CalhounGemma L Carvill
Journal of Neurology

Retinal axonal degeneration in Niemann-Pick type C disease

Journal of NeurologyMarch 31, 2020
Joachim HavlaSusanne A Schneider
Frontiers in Molecular Neuroscience

Protein Aggregation and Dysfunction of Autophagy-Lysosomal Pathway: A Vicious Cycle in Lysosomal Storage Diseases

Frontiers in Molecular NeuroscienceMarch 29, 2020
Antonio Monaco, Alessandro Fraldi
Frontiers in Cellular Neuroscience

Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

Frontiers in Cellular NeuroscienceApril 2, 2020
Anna FassioFabio Benfenati
Biochimica Et Biophysica Acta. Molecular Basis of Disease

Exercise, redox system and neurodegenerative diseases

Biochimica Et Biophysica Acta. Molecular Basis of DiseaseMarch 31, 2020
Helong QuanZsolt Radak

The multiple facets of the SMC1A gene

GeneMarch 31, 2020
Antonio Musio
Biochimica Et Biophysica Acta. Molecular Basis of Disease

Experimental gene therapies for the NCLs

Biochimica Et Biophysica Acta. Molecular Basis of DiseaseMarch 30, 2020
Wenfei LiuAhad A Rahim
The Journal of Gene Medicine

A novel UBE2A mutation in a Chinese family with X-linked intellectual disability

The Journal of Gene MedicineMarch 30, 2020
Weimin JiaXianqin Zhang
Frontiers in Molecular Biosciences

In silico, in vitro , and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome

Frontiers in Molecular BiosciencesMarch 29, 2020
Saif N HaifyGian Gaetano Tartaglia

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