Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization [0.03%]
遗传性痉挛性截瘫中COQ4双等位基因变异的临床和分子特征分析
Xiang Lin,Jun-Yi Jiang,Dao-Jun Hong et al.
Xiang Lin et al.
Background: Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by progressive lower-extremity spasticity. Despite the identification of several HSP-related genes, many patients lack a genetic diag...
Progressive Cerebrovascular Reactivity Reduction Occurs in Parkinson's Disease: A Longitudinal Study [0.03%]
帕金森病的血管反应性进行性下降：一项纵向研究
Jian Wang,Hongwei Li,Jia Jia et al.
Jian Wang et al.
Background: The change of microvascular function over the course of Parkinson's disease (PD) remains unclear. Objective: We aimed to as...
Cerebellar, Not Nigrostriatal Degeneration Impairs Dexterity in Multiple System Atrophy [0.03%]
小脑而非黑质纹状体的变性导致多系统萎缩患者的灵巧度下降
Alexander Rau,Jonas A Hosp,Michel Rijntjes et al.
Alexander Rau et al.
Background: Multiple system atrophy (MSA) clinically manifests with either predominant nigrostriatal or cerebellopontine degeneration. This corresponds to two different phenotypes, one with predominant Parkinson's symptom...
Impaired Mitochondrial Respiration in REM-Sleep Behavior Disorder: A Biomarker of Parkinson's Disease? [0.03%]
快速眼动睡眠行为障碍的线粒体呼吸功能受损：帕金森病的生物标志物吗？
Gerardo Ongari,Cristina Ghezzi,Deborah Di Martino et al.
Gerardo Ongari et al.
Background: Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is associated with prodromal Parkinson's disease (PD), but the mechanisms linking phenoconversion of iRBD to PD have not yet been clarified. C...
Charting Disease Trajectories from Isolated REM Sleep Behavior Disorder to Parkinson's Disease [0.03%]
从孤立的快速眼动睡眠行为障碍到帕金森病的疾病轨迹图表法
Cécile Di Folco,Raphaël Couronné,Isabelle Arnulf et al.
Cécile Di Folco et al.
Background: Clinical presentation and progression dynamics are variable in patients with Parkinson's disease (PD). Disease course mapping is an innovative disease modelling technique that summarizes the range of possible ...
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8 [0.03%]
RAI1五核苷酸重复序列插入突变导致良性成人遗传性肌阵挛性癫痫8型
Patra Yeetong,Mohamed E Dembélé,Monnat Pongpanich et al.
Patra Yeetong et al.
Background: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in differe...
Shared Genetic Architecture between Parkinson's Disease and Brain Structural Phenotypes [0.03%]
帕金森病与脑结构表型之间的共享遗传结构
Dong-Rui Ma,Shuang-Jie Li,Jing-Jing Shi et al.
Dong-Rui Ma et al.
Background: Patients with Parkinson's disease (PD) have consistently demonstrated brain structure abnormalities, indicating the presence of shared etiological and pathological processes between PD and brain structures; ho...
Misfolded α-Synuclein Seeding Is Detected in Suspected LRRK2-Parkinson's Disease without Immunohistochemically Detectable α-Synuclein Pathology [0.03%]
在没有免疫组化检测到α-突触核蛋白病理的LRKK2型帕金森病中发现错误折叠的α-突触核蛋白种子
Ain Kim,Ivan Martinez-Valbuena,Julia L Keith et al.
Ain Kim et al.