Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension [0.03%]
Omaveloxolone在弗瑞德里希共济失调症中的疗效：MOXIe扩展试验的延迟开始分析
David R Lynch,Melanie P Chin,Sylvia Boesch et al.
David R Lynch et al.
Background: MOXIe was a two-part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a rare, progressive neurological disease with no proven therapy. MOXIe part 2, a randomized ...
Randomized Controlled Trial
Movement disorders : official journal of the Movement Disorder Society. 2023 Feb;38(2):313-320. DOI:10.1002/mds.29286 2023
Benjamin Adebisi,Mohamed A Nour,María T Periñán
Benjamin Adebisi
Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers [0.03%]
弗里德赖希共济失调的视觉通路的多模态分析揭示了新的生物标志物
Gilbert Thomas-Black,Daniel R Altmann,Harry Crook et al.
Gilbert Thomas-Black et al.
Background: Optic neuropathy is a near ubiquitous feature of Friedreich's ataxia (FRDA). Previous studies have examined varying aspects of the anterior and posterior visual pathways but none so far have comprehensively ev...
Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight [0.03%]
核孔复合物在肌张力障碍发病机制中的功能障碍：核孔蛋白成为研究焦点
Alessio Di Fonzo,Michael Zech
Alessio Di Fonzo
Long-Term Recording of Subthalamic Aperiodic Activities and Beta Bursts in Parkinson's Disease [0.03%]
帕金森病患者长期记录丘脑底核非周期活动和β爆发
Ghazaleh Darmani,Neil M Drummond,Hamidreza Ramezanpour et al.
Ghazaleh Darmani et al.
Background: Local field potentials (LFPs) represent the summation of periodic (oscillations) and aperiodic (fractal) signals. Although previous studies showed changes in beta band oscillations and burst characteristics of...
Specialized Versus Generic Allied Health Therapy and the Risk of Parkinson's Disease Complications [0.03%]
特异性与通用 allied health 疗法及帕金森病并发症的风险
Amir H Talebi,Jan H L Ypinga,Nienke M De Vries et al.
Amir H Talebi et al.
Background: Specialized versus generic physiotherapy (PT) reduces Parkinson's disease (PD)-related complications. It is unclear (1) whether other specialized allied heath disciplines, including occupational therapy (OT) a...
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder [0.03%]
导致NKX2-1相关紊乱的新型Alu逆转录事件的检测与特征分析
Francesca Magrinelli,Clarissa Rocca,Roberto Simone et al.
Francesca Magrinelli et al.
Background: Heterozygous NKX2-1 loss-of-function variants cause combinations of hyperkinetic movement disorders (MDs, particularly childhood-onset chorea), pulmonary dysfunction, and hypothyroidism. Mobile element inserti...
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia [0.03%]
SHQ1变异体在幼年发作的常染色体隐性营养不良中致病作用的证实
Elisabetta Indelicato,Sylvia Boesch,Manuela Baumgartner et al.
Elisabetta Indelicato et al.
Nicotine-Mediated Rescue of α-Synuclein Toxicity Requires Synaptic Vesicle Glycoprotein 2 in Drosophila [0.03%]
尼古丁介导的对α-突触核蛋白毒性的挽救作用需要果蝇中的突触小泡糖蛋白2
Abby L Olsen,Sabrina G Clemens,Mel B Feany
Abby L Olsen
Background: Parkinson's disease (PD) is characterized by α-synuclein aggregation and loss of dopamine neurons. Risk of PD arises due to a combination of genetic and environmental factors, which may interact, termed gene-...
De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia [0.03%]
仅小脑共济失调韩国患者中SPTAN1 Lys2083del变异从头产生
Jae Young Joo,Jihoon G Yoon,Seoungbok Lee et al.
Jae Young Joo et al.