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.
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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

article Full Text OpenAlex 535 FWCI46.8651

Signalling mechanisms and cellular functions of SUMO

review Full Text OpenAlex 380 FWCI6.4159

A biological classification of Huntington's disease: the Integrated Staging System

article Full Text OpenAlex 344 FWCI23.9856

Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities

article Full Text OpenAlex 333 FWCI26.5055

Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta‐Analysis

review Full Text OpenAlex 269 FWCI8.0054

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

article Full Text OpenAlex 263 FWCI19.0395

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease

article Full Text OpenAlex 210 FWCI69.6554

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

article Full Text OpenAlex 188 FWCI14.482

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

article Full Text OpenAlex 187 FWCI14.5594

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

article Full Text OpenAlex 175 FWCI14.1863