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
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort

article Full Text OpenAlex

The Somatic Mosaicism across Human Tissues Network

review Full Text OpenAlex

Allostery is a widespread cause of loss-of-function variant pathogenicity

preprint Full Text OpenAlex

Parkinson's Disease Multidisciplinary Complex Therapy (PD-MCT): appreciation of its current function for the treatment of people with Parkinson’s disease in Germany and the needs of future development

review Full Text OpenAlex

Lowering theHTT1atranscript as an effective therapy for Huntingtons disease

preprint Full Text OpenAlex

Striatal Dopamine Actions and Movement: Inferences from Parkinson Disease

review Full Text OpenAlex

Multi-omics Analysis of Energy Metabolism Pathways Across Major Psychiatric Disorders

article Full Text OpenAlex

Human glial progenitors transplanted into Huntington disease mice normalize neuronal gene expression, dendritic structure, and behavior

article Full Text OpenAlex

Continuous subcutaneous infusion therapies in Parkinson’s disease: evidence of efficacy and safety

article Full Text OpenAlex

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects

article Full Text OpenAlex

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

article Full Text OpenAlex 671 FWCI125.932

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

review Full Text OpenAlex 669 FWCI15.781

Updated Diagnostic Criteria for Paraneoplastic Neurologic Syndromes

article Full Text OpenAlex 546 FWCI58.156

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

review Full Text OpenAlex 465 FWCI46.716

Oxidative Stress and Antioxidants in Neurodegenerative Disorders

review Full Text OpenAlex 368 FWCI30.102

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

review Full Text OpenAlex 335 FWCI10.985

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

review Full Text OpenAlex 284 FWCI8.756

Molecular mechanisms underlying nucleotide repeat expansion disorders

review Full Text OpenAlex 281 FWCI9.607

Single-cell dissection of the human brain vasculature

article Full Text OpenAlex 245 FWCI23.188

FlyWire: online community for whole-brain connectomics

article Full Text OpenAlex 244 FWCI16.034