Utility of patient subgrouping in ALS clinical trials: a World Federation of Neurology white paper [0.03%]
世界神经病学联合会关于肌萎缩侧索硬化临床试验中亚组划分效用的白皮书
Jeffrey Rosenfeld,Sharon Abrahams,Caroline McHutchinson et al.
Jeffrey Rosenfeld et al.
The heterogeneity among the amyotrophic lateral sclerosis (ALS)/MND patient population is well recognized but not well understood. Such heterogeneity may represent a significant confound in our current and prior clinical trials as certain s...
Novel and rare variants in amyotrophic lateral sclerosis genes identified in Malaysian patients [0.03%]
马来西亚ALS患者中导致运动神经元病的新型和罕见变异基因的识别
Nurul Angelyn Zulhairy-Liong,Suzanna Edgar,Melina Ellis et al.
Nurul Angelyn Zulhairy-Liong et al.
There is limited information on the genetic architecture of amyotrophic lateral sclerosis (ALS) in Southeast Asian populations. To address this knowledge gap, we performed 1) SOD1 (exon 1-4), FUS (exon 13-15), TARDBP (exon 6) and ATXN2 repe...
Four families with slowly progressive ALS due to p.Val120Leu SOD1 variant in Northeast Brazil [0.03%]
巴西东北部4个患有渐进性ALS的家族由于SOD1基因变异(p.Val120Leu)所致
Francisco de Assis Aquino Gondim,José Marcelino Aragão Fernandes,Avelino Missialdes Dutra Junior et al.
Francisco de Assis Aquino Gondim et al.
Objective: SOD1 mutations are the second most prevalent variants in amyotrophic lateral sclerosis (ALS). Epidemiological data about SOD1 mutations are scarce in Brazil. Here, we report the clinical and genetic findings of four Brazilian fam...
Integrating administrative health data and machine learning to predict ALS onset [0.03%]
利用行政健康数据和机器学习预测ALS发病
Toni Mora,David Roche,Pol Andrés Benito et al.
Toni Mora et al.
Background: This study aims to develop a Machine Learning (ML) model to predict the initial diagnosis of Amyotrophic Lateral Sclerosis (ALS). Methods: ...
Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis [0.03%]
SOD1基因新型内含子重复突变导致一日本家族ALS病发病
Masanori Nakajima,Hiroya Naruse,Yuichi Riku et al.
Masanori Nakajima et al.
Objectives: To analyze the cases of a family with a novel in-frame duplication variant (NM_000454.5:c.357_357 + 2dup, p.Val120dup) of SOD1 and a structural model of the mutated SOD1 protein. ...
Mental health treatment of persons with ALS & their families: implementing an intervention to support practitioners [0.03%]
ALS患者及家属的精神健康治疗：实施一项支持从业者的干预措施
Jayden Varline,Melissa Enfinger,Melinda S Kavanaugh
Jayden Varline
Objective: Given the limited education available to practitioners who provide mental health care for persons with amyotrophic lateral sclerosis (ALS) and their family members, a partnership between Mental Health America, Global Neuro YCare,...
Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study [0.03%]
沙特阿拉伯的肌萎缩侧索硬化症（ALS）多中心描述性研究
Abdulmalik Alshoshan,Adi Abdulaziz R Aldubaiyan,Ammar Hakami et al.
Abdulmalik Alshoshan et al.
Introduction: Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease characterized by the progressive loss of muscle control, leading to paralysis and death. While ALS has been extensively studied globall...
Patient-based evidence for amyotrophic lateral sclerosis prognostic health communication: "the clock is ticking…how long do I have?" [0.03%]
基于患者的证据用于肌萎缩侧索硬化症预后健康交流：“时间不多了……我还能活多久？
Shelagh K Genuis,Westerly Luth,Brianna Adams et al.
Shelagh K Genuis et al.
Objectives: Prognostic health communication is a critical challenge for amyotrophic lateral sclerosis (ALS) health-care professions, however patient-based evidence for best practice remains limited. We investigated how the experiences of AL...
Quality of life and care burden of people living with amyotrophic lateral sclerosis who need home-based medical care in Korea and their family caregivers [0.03%]
韩国ALS居家医疗患者及其家庭照护者的生命质量和照顾负担
Shin Hye Yoo,Belong Cho,Kyae Hyung Kim et al.
Shin Hye Yoo et al.
Objective: Advanced neurodegenerative diseases (NDDs) lead to severe mobility limitations, creating significant challenges for patients and caregivers at home. We aimed to investigate the quality of life (QOL) and care burden of people livi...