专题:Genetic Neurodegenerative Diseases

This cluster of papers explores the molecular mechanisms underlying neurodegenerative diseases such as Huntington's disease, myotonic dystrophy, and ataxias. It focuses on protein aggregation, polyglutamine toxicity, mitochondrial dysfunction, RNA-mediated disorders, chaperone function, gene expression dysregulation, and the role of trinucleotide repeats in neuronal degeneration.
最新文献
Chronic adaptive deep brain stimulation versus conventional stimulation in Parkinson’s disease: a blinded randomized feasibility trial

article Full Text OpenAlex

Nuclear and degradative functions of the ESCRT-III pathway: implications for neurodegenerative disease

article Full Text OpenAlex

Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3

article Full Text OpenAlex

AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich’s ataxia

article Full Text OpenAlex

Thalamic Alterations in Motor Neuron Diseases: A Systematic Review of MRI Findings

review Full Text OpenAlex

Striosomes Target Nigral Dopamine-Containing Neurons via Direct-D1 and Indirect-D2 Pathways Paralleling Classic Direct-Indirect Basal Ganglia Systems

preprint Full Text OpenAlex

Local Dynamic Stability of Trunk During Gait is Responsive to Rehabilitation in Subjects with Primary Degenerative Cerebellar Ataxia

article Full Text OpenAlex

Emerging antibody-based therapies for Huntington’s disease: current status and perspectives for future development

article Full Text OpenAlex

Diagnosing Preclinical and Prodromal Neurodegenerative Diseases—The Clinical Is Political

article Full Text OpenAlex

RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons

article Full Text OpenAlex

近5年高被引文献
A draft human pangenome reference

article Full Text OpenAlex 938 FWCI202.54967043

Mechanisms of muscle atrophy and hypertrophy: implications in health and disease

review Full Text OpenAlex 784 FWCI57.6416645

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

review Full Text OpenAlex 609 FWCI230.89540349

Updated Diagnostic Criteria for Paraneoplastic Neurologic Syndromes

article Full Text OpenAlex 602 FWCI62.28345263

Oxidative Stress and Antioxidants in Neurodegenerative Disorders

review Full Text OpenAlex 475 FWCI145.92531723

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

review Full Text OpenAlex 405 FWCI36.39564808

Glutamate metabolism and recycling at the excitatory synapse in health and neurodegeneration

review Full Text OpenAlex 320 FWCI28.99519964

Molecular mechanisms underlying nucleotide repeat expansion disorders

review Full Text OpenAlex 319 FWCI29.60179377

Single-cell dissection of the human brain vasculature

article Full Text OpenAlex 305 FWCI40.1205455

Neuropathology and molecular diagnosis of Synucleinopathies

review Full Text OpenAlex 285 FWCI25.91751515