α-Synuclein Gene Hypomethylation in LRRK2 Parkinson's Disease Patients [0.03%]
LRRK2帕金森病患者的α-突触核蛋白基因低甲基化
Lorena de Mena,Guillem Parés,Alicia Garrido et al.
Lorena de Mena et al.
Background: α-Synuclein (SNCA) gene hypomethylation was reported in idiopathic Parkinson's disease (iPD). Based on a high clinical resemblance between iPD and leucine-rich repeat kinase 2 (LRRK2)-driven Parkinson's disea...
Subthalamic γ Oscillation Underlying Rapid Eye Movement Sleep Abnormality in Parkinsonian Patients [0.03%]
帕金森病患者的快速眼动睡眠异常背后的底丘脑γ振荡现象
Lingxiao Guan,Huiling Yu,Yue Chen et al.
Lingxiao Guan et al.
Background: Abnormal rapid eye movement (REM) sleep, including REM sleep behavior disorder (RBD) and reduced REM sleep, is common in Parkinson's disease (PD), highlighting the importance of further study on REM sleep. How...
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient [0.03%]
土耳其一名患者因FGF14终止变异导致的以显著非运动诱发性异动症为特征的常染色体隐性遗传共济失调病首例报道
Dilşad Türkdoğan,Natalia Smolina,Şeyma Tekgül et al.
Dilşad Türkdoğan et al.
Background: ATX-FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances. ...
A Short Progressive Supranuclear Palsy Quality of Life Scale: Data from the PSP-NET [0.03%]
轴突核张力障碍简明生活质量评估量表：来自PSP-NET项目的数据
Arianna Cappiello,Paolo Barone,Marina Picillo;PSP‐NET Study Group.
Arianna Cappiello
Reply to: "A Short Progressive Supranuclear Palsy Quality of Life Scale: Data from the PSP-NET" [0.03%]
关于“进行性核上性麻痹生活质量简表的报告：PSP-NET的数据分析”的回复
Ida Jensen,Sarah Bebermeier,Stephanie Stiel et al.
Ida Jensen et al.
Cristina Sampaio
Cristina Sampaio
Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China [0.03%]
GLS基因中GCA重复序列的遗传分析及其在中国大陆未诊断共济失调和脊髓小脑性共济失调3型中的意义
Lijing Lei,Linliu Peng,Linlin Wan et al.
Lijing Lei et al.
Background: Recent studies have reported that expanded GCA repeats in the GLS gene can cause glutaminase deficiency with ataxia phenotype. However, to data, no studies have investigated the distribution and role of GCA re...
Association between the Amplification Parameters of the α-Synuclein Seed Amplification Assay and Clinical and Genetic Subtypes of Parkinson's Disease [0.03%]
帕金森病临床及遗传亚型与α-突触核蛋白种子放大实验放增参数之间的关联性研究
Piergiorgio Grillo,Luis Concha-Marambio,Antonio Pisani et al.
Piergiorgio Grillo et al.
Background: α-Synuclein seed amplification assay on cerebrospinal fluid (CSF-αSyn-SAA) has shown high accuracy for Parkinson's disease (PD) diagnosis. The analysis of CSF-αSyn-SAA parameters may provide useful insight ...
Changes in Action Tremor in Parkinson's Disease over Time: Clinical and Neuroimaging Correlates [0.03%]
帕金森病的行动震颤随时间变化：临床和神经影像相关因素
Kevin R E van den Berg,Martin E Johansson,Michiel F Dirkx et al.
Kevin R E van den Berg et al.
Background: The various symptoms of Parkinson's disease (PD) may change differently over time as the disease progresses. Tremor usually manifests early in the disease, but unlike other motor symptoms, its severity may dim...
All-Cause and Cause-Specific Mortality in Tourette Syndrome and Chronic Tic Disorder [0.03%]
抽动障碍和慢性抽动障碍的全因及单因死亡率
Lorena Fernández de la Cruz,Kayoko Isomura,Ralf Kuja-Halkola et al.
Lorena Fernández de la Cruz et al.
Background: Tourette syndrome (TS) and chronic tic disorder (CTD) may be associated with an increased risk of mortality, but specific causes of death are poorly understood. ...