Understanding the experiences of adults with spinal muscular atrophy & their transition to an adult program: A mixed methods study [0.03%]
脊髓性肌萎缩成人患者的生活体验及其过渡到成人期治疗项目的经历：一种混合研究方法的研究报告
Joseph Munn,Emily Zaltz,Aaron Izenberg et al.
Joseph Munn et al.
Introduction: Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease. With the discovery of disease-modifying therapies, more infantile onset SMA patients will live to adulthood. The purpose of this study was to ex...
A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance [0.03%]
一种新的XPNPEP3基因变异表现为横纹肌溶解症和运动不耐受
Katia Staedler,Juliette Nectoux,Corinne Metay et al.
Katia Staedler et al.
Biallelic mutations in XPNPEP3 gene, encoding a mitochondrial peptidase, mainly cause nephronophthisis, but associated muscle involvement remains poorly described. We report here a 44-year-old male presenting since childhood with exercise i...
Maggie C Walter,Bernert Günther,Blaschek Astrid et al.
Maggie C Walter et al.
An increasing number of adults with spinal muscular atrophy (SMA) wish to become parents. New disease-modifying therapies (DMT) have improved health outcomes and are expected to reduce disability in adults with SMA, but their current label ...
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study [0.03%]
5号染色体长臂相关脊髓性肌萎缩症的家族内表型变异特征：一项多中心兄弟姐妹队列研究
Benedikt Becker,Isabell Cordts,Jutta Becker et al.
Benedikt Becker et al.
Background and objectivesThe severity of the phenotype of spinal muscular atrophy (SMA) is highly variable, yet little is known about the phenotypic variation among siblings. We systematically investigated the phenotypic variability of ther...
Electrical impedance myography captures features of muscle structure measured by MRI and transcriptomic analysis in facioscapulohumeral muscular dystrophy [0.03%]
电气阻抗肌图测定法可捕捉到面肩肱型肌肉营养不良症磁共振成像和转录组分析所测量的肌肉结构特征
Leo H Wang,Buket Sonbas Cobb,Lara Riem et al.
Leo H Wang et al.
Background: Electrical impedance myography (EIM) has been proposed as an efficient, non-invasive biomarker of muscle composition in facioscapulohumeral muscular dystrophy (FSHD). ...
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders [0.03%]
用于神经肌肉疾病诊断的错义变异评估的AlphaMissense预测方法
Martin Krenn,Axel Schmidt,Matias Wagner et al.
Martin Krenn et al.
Next-generation sequencing has improved diagnostic outcomes for neuromuscular disorders, but interpreting rare missense variants remains challenging. We evaluated AlphaMissense, a recently developed machine learning tool, for predicting mis...
Disease-modifying therapies for spinal muscular atrophy: Family experience, ethical considerations, and the role of social determinants of health [0.03%]
脊髓性肌萎缩症的疾病修正治疗：家庭体验、伦理考量及社会健康决定因素的作用
Lena Xiao,Djurdja Djordjevic,Sohee Kang et al.
Lena Xiao et al.
Objectives: Spinal muscular atrophy is a progressive neuromuscular condition associated with a complex chronic disease course. An in-depth understanding of the ethical issues and social determinants of health impacting th...
Charlotte Lilien,Leslie Nelson,Lisa Edel et al.
Charlotte Lilien et al.
DesignThe landscape of spinal muscular atrophy drastically changed following the introduction of disease-modifying therapies, emphasizing the need for comprehensive rehabilitation strategies to maximize functional outcomes. Our aim is to id...
Bullying experiences of youth with neuromuscular disorders and their well-being: A survey study [0.03%]
神经肌肉疾病青年的欺凌经历及其幸福感：一项调查研究
Christina Ippolito,Marc-Olivier Deguise,Hanns Lochmüller et al.
Christina Ippolito et al.
Purpose: Bullying is a widespread problem in Canada and throughout the world. Children and youth with chronic illnesses or physical disabilities are more likely to be targets of bullying of all kinds. However, there is a ...
Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation [0.03%]
儿童期起病的肌萎缩侧索硬化症中SPTLC2新发和复发突变的特征及其对鞘脂代谢紊乱的影响
Xiaona Fu,Kenneth Gable,Sita D Gupta et al.
Xiaona Fu et al.
Background: Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder that progressively affects motor neurons. Gain-of-function mutations in serine palmitoyltransferase (SPT) genes, notably SPTLC1 and SP...