专题：Neurological diseases and metabolism

This cluster of papers focuses on neurodegenerative disorders associated with brain iron accumulation, particularly emphasizing the genetic mutations in genes such as Pantothenate Kinase (PANK2), Coenzyme A biosynthesis, and Phospholipase A2 (PLA2G6). The research also explores the clinical, radiographic, and neuroimaging features of these disorders.
最新文献
The pathogenesis of Parkinson's disease

review Full Text OpenAlex

Investigating the Regulation of Ribosomal Protein S6 Kinase 1 by CoAlation

article Full Text OpenAlex

Associations between multiple neurological biomarkers and distal sensorimotor polyneuropathy: KORA F4/FF4 study

article Full Text OpenAlex

Cerebellar atrophy in genetic epileptic encephalopathies: A cohort study and a systematic review

review Full Text OpenAlex

Protection against Alzheimer’s Disease with APOE Christchurch Variant — How?

editorial Full Text OpenAlex

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases

article Full Text OpenAlex

Infantile Neuroaxonal Dystrophy: A Case Report and Review of Literature

preprint Full Text OpenAlex

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

article Full Text OpenAlex

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay

article Full Text OpenAlex

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant

article Full Text OpenAlex

近5年高被引文献
Challenges in the diagnosis of Parkinson's disease

review Full Text OpenAlex 1458 FWCI126.60231221

Hallmarks of neurodegenerative diseases

review Full Text OpenAlex 1286 FWCI388.53194937

Inflammation and immune dysfunction in Parkinson disease

review Full Text OpenAlex 1109 FWCI190.68046073

Role of neuroinflammation in neurodegeneration development

review Full Text OpenAlex 1036 FWCI310.58756137

Structure-based classification of tauopathies

article Full Text OpenAlex 826 FWCI109.90735664

Amyotrophic lateral sclerosis

review Full Text OpenAlex 817 FWCI138.553211

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

review Full Text OpenAlex 637 FWCI107.48061589

The pathogenesis of Parkinson's disease

review Full Text OpenAlex 577 FWCI440.14978428

A multicentre validation study of the diagnostic value of plasma neurofilament light

article Full Text OpenAlex 505 FWCI55.4987628

Cryo-EM structures of amyloid-β 42 filaments from human brains

article Full Text OpenAlex 495 FWCI91.72264449