Physiotherapeutic management of patients with SMA: A questionnaire-based online survey among physiotherapists within the SMArtCARE network [0.03%]
SMArtCARE网络中物理治疗师的调查：脊髓性肌萎缩症患者的理疗管理在线问卷调查结果分析
Sibylle Vogt,Cornelia Voigt-Müller,Heidi Rochau-Trumpp et al.
Sibylle Vogt et al.
Background and objectives: Disease-modifying treatments (DMT) have dramatically changed phenotypes in patients with spinal muscular atrophy (SMA). Because publications regarding standards of care were published before DMT...
Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations [0.03%]
在健康的黎巴嫩人中鉴定到DMD基因的周期性无意义突变p.Trp3416*: 对变异分类和基因型表型关联的影响
Eliane Chouery,Cybel Mehawej,Serena Youssef et al.
Eliane Chouery et al.
Background: Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by pathogenic variants in the DMD gene, leading to dystrophin deficiency and progressive muscle degeneration. Thousands of v...
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy [0.03%]
杜氏肌营养不良外显子跳读治疗药物依特昔仑与心脏预后之间的关联性分析
Joel Iff,Isabelle Desguerre,Yunjuan Liu et al.
Joel Iff et al.
BackgroundDuchenne muscular dystrophy (DMD) leads to dilated cardiomyopathy and heart failure during teenage years or young adulthood. Eteplirsen promotes dystrophin production through skipping of exon 51 of the DMD gene.ObjectiveThis analy...
'FlexYonio'; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD) [0.03%]
“FlexYonio”：监测杜氏肌营养不良症（DMD）患者长指屈伸肌长度的可靠工具
Saskia Ls Houwen-van Opstal,Maaike Pelsma,Yolanda Mem van den Elzen et al.
Saskia Ls Houwen-van Opstal et al.
BackgroundShortening of the long finger flexors (FDP) results in extension limitation of both wrist and fingers and can hinder important activities of the upper extremities in Duchenne muscular dystrophy (DMD). Early detection of FDP shorte...
Congenital-onset MLASA2 from a novel YARS2 variant: A literature review [0.03%]
YARS2变异引起的先天性MLASA2病例的文献综述
Astrid Eisenkölbl,Hanns Lochmüller,Melissa T Carter et al.
Astrid Eisenkölbl et al.
IntroductionMLASA (myopathy, lactic acidosis and sideroblastic anemia) is a rare, autosomal recessive mitochondrial disorder. Symptom onset typically occurs in childhood and differs considerably in disease severity. Congenital-onset disease...
Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials [0.03%]
肌营养不良1型(DM1)临床试验中RNA剪接变化的替代终点研究
J Andrew Berglund,Aaron Novack,Iva Ivanovska Holder et al.
J Andrew Berglund et al.
Myotonic dystrophy type 1 (DM1) is a slowly progressive, multi-systemic disorder with clinical phenotypes that vary by age of onset and severity of symptoms. It is the most common form of muscular dystrophy occurring in adults. Abnormal reg...
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy [0.03%]
超越肌肉：在杜氏肌营养不良症中将RNA药物输送到中枢神经系统
Ophélie Vacca,Cathy Nagy,Aurélie Goyenvalle
Ophélie Vacca
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration due to mutations in the dystrophin gene. In addition to the well-known musculoskeletal, cardiac, and respiratory symptoms, DMD a...
Use of imaging biomarkers and ambulatory functional endpoints in Duchenne muscular dystrophy clinical trials: Systematic review and machine learning-driven trend analysis [0.03%]
杜氏肌营养不良临床试验中影像生物标志物和门诊功能性终点的应用：系统评价和机器学习驱动的趋势分析
Matthew Todd,Sanghoon Kang,Shunwen Wu et al.
Matthew Todd et al.
Duchenne muscular dystrophy (DMD) is a rare X-linked genetic muscle disorder affecting primarily pediatric males and leading to limited life expectancy. This systematic review of 85 DMD trials and non-interventional studies (2010-2022) eval...
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project [0.03%]
西班牙脊髓性肌萎缩症的真实世界数据：CuidAME项目中500余例患者的启示
Cristina Puig-Ram,Sonia Segovia,Rocio Garcia-Uzquiano et al.
Cristina Puig-Ram et al.
BackgroundThe new treatment paradigm in Spinal Muscular Atrophy (SMA) has introduced novel phenotypes, changes in trajectories and clinical questions not fully addressed in clinical trials. To explore these challenges, several international...
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan [0.03%]
日本罕见病联盟首届研讨会报告——2023年7月18日，日本相模健康创新园区
Toshifumi Yokota,Naoto Inukai,Hiroyuki Shibasaki et al.
Toshifumi Yokota et al.
The Rare Disease Consortium Japan (RDCJ) is a newly formalized cross-sector initiative launched to address the urgent and growing needs of individuals living with rare diseases in Japan, aiming to support a wide range of rare conditions, in...