Repeat-Associated Non-AUG Translation of AGAGGG Repeats that Cause X-Linked Dystonia-Parkinsonism [0.03%]
X脆性综合征相关CGG重复序列的非AUG起始无意义突变翻译
Charles Jourdan Reyes,Katsura Asano,Peter K Todd et al.
Charles Jourdan Reyes et al.
Background: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder caused by the intronic insertion of a SINE-VNTR-Alu (SVA) retrotransposon carrying an (AGAGGG)n repeat expansion in the TAF1 gene. The molec...
Gastrointestinal Motility and Response to Levodopa in Parkinson's Disease: A Proof-of-Concept Study [0.03%]
帕金森病胃肠道运动和左旋多巴反应性的概念验证研究
Delaram Safarpour,Barbara H Brumbach,Monica Arena et al.
Delaram Safarpour et al.
Background: Simultaneous measurement of gastrointestinal transit time (GITT) and plasma levodopa concentration (PLC) is crucial to understanding the effect of dysfunctional motility on levodopa response in patients with P...
Serum MicroRNAs Predict Isolated Rapid Eye Movement Sleep Behavior Disorder and Lewy Body Diseases [0.03%]
血清miRNA可预测孤立性REM睡眠行为障碍和路易体疾病
Marta Soto,Alex Iranzo,Sara Lahoz et al.
Marta Soto et al.
Background: Isolated rapid eye movement sleep behavior disorder (IRBD) is a well-established clinical risk factor for Lewy body diseases (LBDs), such as Parkinson's disease (PD) and dementia with Lewy bodies (DLB). ...
Phase 1/1b Studies of UCB0599, an Oral Inhibitor of α-Synuclein Misfolding, Including a Randomized Study in Parkinson's Disease [0.03%]
UCB0599的I/Ib期研究（UCB0599是一种口服α-突触核蛋白错误折叠抑制剂）包括帕金森病中的一个随机临床试验
Johan Willem Smit,Peter Basile,Maria Key Prato et al.
Johan Willem Smit et al.
Background: Parkinson's disease (PD) and its progression are thought to be caused and driven by misfolding of α-synuclein (ASYN). UCB0599 is an oral, small-molecule inhibitor of ASYN misfolding, aimed at slowing disease ...
Kristina Simonyan,Stefan K Ehrlich,Richard Andersen et al.
Kristina Simonyan et al.
Task-specificity in isolated focal dystonias is a powerful feature that may successfully be targeted with therapeutic brain-computer interfaces. While performing a symptomatic task, the patient actively modulates momentary brain activity (d...
Gray Matter Volume Loss in Proposed Brain-First and Body-First Parkinson's Disease Subtypes [0.03%]
脑源性和躯体性帕金森病亚型的灰质体积损失
Magdalena Banwinkler,Verena Dzialas;Parkinson&#x;s Progression Markers Initiative;Merle C Hoenig,Thilo van Eimeren
Magdalena Banwinkler
Background: α-Synuclein pathology is associated with neuronal degeneration in Parkinson's disease (PD) and considered to sequentially spread across the brain (Braak stages). According to a new hypothesis of distinct α-s...
Inclusion of Non-English-Speaking Participants in Studies of Parkinson's Disease: A Call to Action [0.03%]
呼吁纳入讲英语以外语言的帕金森病研究对象
Kathleen E McKee,Rebecca M Gilbert,Wendy A Spigle et al.
Kathleen E McKee et al.
Epigenetic Clock Acceleration Is Linked to Age at Onset of Parkinson's Disease [0.03%]
表观遗传钟老化速度与帕金森病的发病年龄相关
Xuelin Tang,Paulina Gonzalez-Latapi,Connie Marras et al.
Xuelin Tang et al.
Background: Aging is the strongest risk factor for Parkinson's disease (PD), which is a clinically heterogeneous movement disorder with highly variable age at onset. DNA methylation age (DNAm age) is an epigenetic clock t...
α-Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid-Binding Property [0.03%]
帕金森病家族性变异体α-突触核蛋白V15A表现出较弱的脂质结合性质
Kensuke Daida,Shotaro Shimonaka,Kahori Shiba-Fukushima et al.
Kensuke Daida et al.
Background: The α-Synuclein (α-Syn) V15A variant has been found in two Caucasian families with Parkinson's disease (PD). However, the significance of this missense variant remained unclear. ...
Early Changes in Striatal Activity and Motor Kinematics in a Huntington's Disease Mouse Model [0.03%]
亨廷顿舞蹈病小鼠模型中纹状体活动和运动动力学的早期变化
Ellen T Koch,Marja D Sepers,Judy Cheng et al.
Ellen T Koch et al.
Background: Huntington's disease is a progressive neurodegenerative disorder with no disease-modifying treatments. Patients experience motor, cognitive, and psychiatric disturbances, and the dorsal striatum is the main ta...