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
82. Low protein diet enhances plasma abundance of pantothenate in lactating sows under heat stress

article Full Text OpenAlex

A Case of Multiple System Atrophy Associated with a Homozygous Coq2 Mutation (N228s, C.683a>G)

preprint Full Text OpenAlex

Corrigendum to “The Lenti-Prion hypothesis for sporadic Parkinson’s disease: integrating perinatal latent infection, triggered Alpha-synuclein misfolding/propagation, and the PNEI axis with selective dopaminergic vulnerability”. [Med. Hypoth. 202 (2025) 111733]

erratum Full Text OpenAlex

CACNA1A Genetic Variants and Their Potential Involvement in Migraine Pathogenesis

article Full Text OpenAlex

Genetic analysis of GBA1 gene in a cohort of patients with Parkinson’s Disease

article Full Text OpenAlex

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant

article Full Text OpenAlex

Mutations in PLA2G6 impair ER–mitochondria contacts and ceramide homeostasis via GRP75 in Parkinson’s disease

preprint Full Text OpenAlex

45/w mit schwerer Anämie und seit einem Jahr bestehender Anosmie

article Full Text OpenAlex

Case Report: Meningoencephalomyelitis of unknown origin in foxes (Vulpes vulpes and Vulpes lagopus): insights into the diagnostic challenges in carnivore neurology

article Full Text OpenAlex

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family

article Full Text OpenAlex

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

review Full Text OpenAlex 1219 FWCI32.223

Hallmarks of neurodegenerative diseases

review Full Text OpenAlex 1004 FWCI71.008

Inflammation and immune dysfunction in Parkinson disease

review Full Text OpenAlex 906 FWCI44.084

Role of neuroinflammation in neurodegeneration development

review Full Text OpenAlex 760 FWCI45.658

Amyotrophic lateral sclerosis

review Full Text OpenAlex 678 FWCI32.731

Structure-based classification of tauopathies

article Full Text OpenAlex 659 FWCI80

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

review Full Text OpenAlex 539 FWCI25.9

Disruption of mitochondrial complex I induces progressive parkinsonism

article Full Text OpenAlex 436 FWCI45.486

The pathogenesis of Parkinson's disease

review Full Text OpenAlex 428 FWCI112.107

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

review Full Text OpenAlex 422 FWCI12.816