Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients [0.03%]
FSHD患者的TIRM-MRI引导的肌肉活检的免疫组化和电子显微镜特征
Anna Greco,Benno Kusters,Ritse Mann et al.
Anna Greco et al.
Background: FSHD is an inherited myopathy with complex epigenetic pathogenesis and no causal treatment. Inflammation is thought to contribute to muscle pathology, but its nature remains unclear. ...
The FAIR journey of a patient-driven registry: Reflections and practical solutions from the Duchenne Data Platform FAIRification experience [0.03%]
以患者为中心的注册表实现FAIR化之旅——杜兴氏肌肉营养不良数据平台的实践与思考
Nawel Lalout,Mark D Wilkinson,Dagmar Wandrei et al.
Nawel Lalout et al.
BackgroundSince 2018, World Duchenne Organization, Dutch Duchenne Parent Project, and Duchenne Data Foundation have been championing efforts to make Duchenne-related data reusable in combination with data contained in other registries. Tran...
An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India [0.03%]
一例来自印度的POPDCLGMDR26有趣报告
Dipti Baskar,Kiran Polavarapu,Ananthapadmanabha Kotambail et al.
Dipti Baskar et al.
Introduction: Popeye domain containing 3 (POPDC3) gene encodes a protein involved in membrane trafficking and is highly expressed in skeletal muscles. POPDC3 pathogenic variants are associated with LGMDR26. Only a few rep...
Atypical features including acquired oculomotor apraxia in C9orf72-associated familial primary lateral sclerosis [0.03%]
C9orf72基因相关家族性原发性侧索硬化症的非典型特征包括获得性眼动失用症
Nathan Hostetler,Sydney Zakutney,Catherine Elizabeth Pringle et al.
Nathan Hostetler et al.
Background: The phenotypic variability of C9orf72-associated disease is broadening, including atypical and non-motor presentations. C9orf72-associated neurodegeneration has only rarely been associated with primary lateral...
Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation [0.03%]
Duchenne肌营养不良的步态健康状态描述：运动功能轨迹和丧失步行能力的时间
Francesco Muntoni,James Signorovitch,Michaela Johnson et al.
Francesco Muntoni et al.
We described ambulatory Duchenne muscular dystrophy (DMD) progression, across multiple functional measures, via previously established prognostic groups for loss of ambulation (LoA) and health states. Patients closer to vs. farther from LoA...
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype [0.03%]
杂合子RYR1-I4895T小鼠模型由于表型较轻而预临床相关性有限
Margaux Melka,Ludivine Rotard,Caroline Benstaali et al.
Margaux Melka et al.
Background: Although genetically-engineered mouse models are revolutionizing our understanding of numerous human diseases, some of them fail to reproduce or to mimic the human condition or even exhibit distinct disease fe...
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20 [0.03%]
杜氏肌营养不良上肢功能的纵向研究：PUL 20量表36个月随访结果分析
Giorgia Coratti,Marika Pane,Sophia Paolucci et al.
Giorgia Coratti et al.
Introduction: Duchenne muscular dystrophy (DMD) is a progressive disorder. This study evaluates upper limb function in DMD patients using the Performance of Upper Limb 2.0 (PUL 2.0) over 36-months. ...
Parental illness intrusiveness in parents of children with neuromuscular disorders [0.03%]
神经肌肉病患儿父母的父母亲病入侵感
Sofie Prikken,Sam Geuens,Koen Luyckx et al.
Sofie Prikken et al.
Background: Pediatric neuromuscular diseases (NMDs) do not only affect patients themselves, they also exert an impact on parents. However, the impact that parents experience on their own personal lives remains largely und...
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...