Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia [0.03%]
神经丝蛋白：潜在的SPG11相关遗传性痉挛性截瘫生物标志物
Laura Krumm,Jürgen Winkler,Beate Winner et al.
Laura Krumm et al.
Pedro Daniel Coelho,Marcelo D Mendonça
Pedro Daniel Coelho
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders [0.03%]
THAP1相关疾病的可能表型扩展：纯帕金森主义
Enrico Ambrosini,Rita Cancilla,Jefri Jeya Paul et al.
Enrico Ambrosini et al.
GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism [0.03%]
影响Gαo氨基末端α-螺旋的GNAO1突变会导致帕金森综合征
Gonzalo P Solis,Yonika A Larasati,Moritz Thiel et al.
Gonzalo P Solis et al.
Background: Patients carrying pathogenic variants in GNAO1 present a phenotypic spectrum ranging from severe early-onset epileptic encephalopathy and developmental delay to mild adolescent/adult-onset dystonia. Genotype-p...
Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia [0.03%]
数字姿势摆动测量量化了脊髓小脑共济失调的平衡缺陷
Vrutangkumar V Shah,Daniel Muzyka,Adam Jagodinsky et al.
Vrutangkumar V Shah et al.
Background: Maintaining balance is crucial for independence and quality of life. Loss of balance is a hallmark of spinocerebellar ataxia (SCA). Objective:...
Stochastic Optical Reconstruction Microscopy Imaging of Multiple System Atrophy Inclusions Suggests Stepwise α-Synuclein Aggregation [0.03%]
多系统萎缩症的随机光学重建显微镜成像表明α-突触核蛋白聚集体形成过程呈阶梯式发展
Benoît Vovard,Alexia Bodin,Julien Gouju et al.
Benoît Vovard et al.
Background: The architecture and composition of glial (GCI) and neuronal (NCI) α-synuclein inclusions observed in multiple system atrophy (MSA) remain to be precisely defined to better understand the disease. ...
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease [0.03%]
帕金氏病中周边血单核细胞中Parkin mRNA的表达量
Nikolaos Papagiannakis,Hui Liu,Christos Koros et al.
Nikolaos Papagiannakis et al.
Introduction: Pathogenic variants in parkin (PRKN gene) are the second most prevalent known monogenic cause of Parkinson's disease (PD). How monoallelic or biallelic pathogenic variants in the PRKN gene may affect its tra...
A Randomized Phase 2 KINETIC Trial Evaluating SAGE-324/BIIB124 in Individuals with Essential Tremor [0.03%]
在原发性震颤受试者中评估SAGE-324/BIIB124的随机二期KINETIC试验
Rodger J Elble,William G Ondo,Kelly E Lyons et al.
Rodger J Elble et al.
Background: SAGE-324/BIIB124 is an investigational positive allosteric modulator of GABAA receptors. Objective: KINETIC (NCT04305275), ...
A Case of Successful Pallidal Deep Brain Stimulation in ANO3 Dystonia [0.03%]
ANO3舞蹈病一例成功的苍白球深部脑刺激病例
Gaëtan Poulen,Emilie Chan-Seng,Emily Sanrey et al.
Gaëtan Poulen et al.
Coupled Activation of the Hyperdirect and Cerebellothalamic Pathways with Zona Incerta Deep Brain Stimulation [0.03%]
zona incerta脑深部刺激联合激活超直接通路和小脑丘脑通路
Clayton S Bingham,Cameron C McIntyre
Clayton S Bingham
Background: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) or ventral intermediate nucleus (VIM) are established targets for the treatment of Parkinson's disease (PD) or essential tremor (ET), respectively....