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
Framing the Problem: The Mystery of Post-Finasteride Syndrome and Reasons to Suspect a Microbial Factor

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Neuroinflammatory control of metabolism in huntington’s disease: central role of P2 × 7 receptor mediated redox lipid/epigenetic crosstalk

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An Antibody–Oligonucleotide Conjugate for Myotonic Dystrophy Type 1

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GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy

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Pearls & Oy-sters: SCA27B as an Elusive Genetic Cause of Episodic Neurologic Symptoms in Later Adulthood

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Clinical Features and Biomarkers Associated With Intensive Care–Dependent Refractory NMDAR Encephalitis

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Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

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Computational tools for tandem repeat detection using long-read sequencing

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Blocking RAN translation without altering repeat RNAs rescues C9ORF72 -related ALS and FTD phenotypes

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C9orf72 hexanucleotide repeat RNA drives transcriptional dysregulation through genome-wide DNA:RNA hybrid G-quadruplexes

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

article Full Text OpenAlex 1108 FWCI160.7831

The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy

review Full Text OpenAlex 749 FWCI80.9948

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

review Full Text OpenAlex 726 FWCI149.2962

Oxidative Stress and Antioxidants in Neurodegenerative Disorders

review Full Text OpenAlex 581 FWCI115.2351

Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis

article Full Text OpenAlex 427 FWCI47.3089

Single-cell dissection of the human brain vasculature

article Full Text OpenAlex 328 FWCI28.6004

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

review Full Text OpenAlex 311 FWCI31.223

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

review Full Text OpenAlex 288 FWCI26.3728

Brain lipidomics: From functional landscape to clinical significance

review Full Text OpenAlex 286 FWCI21.6669

Mitochondrial dysfunction: roles in skeletal muscle atrophy

review Full Text OpenAlex 266 FWCI39.3087