Long-term safety of cyclical rozanolixizumab in patients with generalized myasthenia gravis: Results from the Phase 3 MycarinG study and an open-label extension [0.03%]
rozanolixizumab周期治疗全身型重症肌无力患者的长期安全性：来自III期MycarinG研究和开放标签延伸研究的结果
Ali A Habib,Artur Drużdż,Julian Grosskreutz et al.
Ali A Habib et al.
Background: Generalized myasthenia gravis (gMG) is a rare, chronic, fluctuating and heterogeneous autoimmune disease requiring lifelong treatment. The Phase 3 MycarinG study demonstrated the efficacy and safety of one 6-w...
Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21-related disorders [0.03%]
与X连锁过度自噬肌病及其他VMA21相关疾病有关的临床症状和病理机制的近期进展
Ilaria Cocchiararo,Perrine Castets
Ilaria Cocchiararo
X-linked myopathy with excessive autophagy (XMEA) is a rare neuromuscular disorder caused by mutations in the VMA21 gene, encoding a chaperone protein present in the endoplasmic reticulum (ER). In yeast and human, VMA21 has been shown to ch...
Physical training of wheelchair users with neuromuscular disorders: A systematic review [0.03%]
神经肌肉疾病轮椅使用者的身体训练：系统回顾
Nanna Scharff Poulsen,Lærke Rykær Kraglund,John Vissing
Nanna Scharff Poulsen
Objective: Wheelchair users with neuromuscular disorders have symptoms related to the disease and complications to the sedentary lifestyle, such as constipation and lower back pain. Physical training might be beneficial. ...
Cardiopulmonary exercise testing as an integrative approach to explore physiological limitations in Duchenne muscular dystrophy [0.03%]
杜兴氏肌肉营养不良生理限制的综合性心脏肺部运动测试方法研究
Meghana Bomma,Donovan Lott,Sean Forbes et al.
Meghana Bomma et al.
Background: Cardiopulmonary exercise testing (CPET) is the gold-standard for quantification of peak oxygen uptake (VO2) and cardiorespiratory and muscle responses to exercise. Its application to Duchenne muscular dystroph...
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions [0.03%]
rozanolixizumab 治疗全身型重症肌无力的三期临床试验 MycarinG 和两项开放标签延伸研究的综合分析
Vera Bril,Artur Drużdż,Julian Grosskreutz et al.
Vera Bril et al.
Background: Myasthenia gravis (MG) is a chronic autoimmune disease causing fluctuating muscle weakness. The MycarinG study showed that rozanolixizumab, a neonatal Fc receptor inhibitor, provided clinically meaningful impr...
Glycogenosis type XI, a rare association between muscle and skin manifestations - the contribution of proteomics for the understanding of the underlying myopathology [0.03%]
糖原蓄积病XI型，肌肉和皮肤表现之间的一种罕见关联 - 蛋白组学对理解潜在的肌病的贡献
Andreas Hentschel,Emmanuelle Lacene,Guy Brochier et al.
Andreas Hentschel et al.
Background: Glycogenosis type 11 or deficiency in lactate dehydrogenase A (LDHA) (OMIM: 612933) is an ultra-rare condition of perturbed glycogen metabolism, first described in 1980 in a Japanese patient, and quite rare ou...
Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD) [0.03%]
杜氏肌营养不良(DMD)患者向成人生活过渡的参与因素分析
Laura Jb Merkenhof,Yvonne Veenhuizen,Elizabeth Vroom et al.
Laura Jb Merkenhof et al.
Background: For people with Duchenne muscular dystrophy (DMD), the transition into their desired adulthood can be challenging. Objectives: ...
Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints [0.03%]
眼部咽部远端肌病的临床和遗传学研究新进展
Hiroyuki Ishiura
Hiroyuki Ishiura
Oculopharyngodistal myopathy (OPDM) is a rare muscular disorder characterized by ocular symptoms, pharyngeal symptoms, facial weakness, and distal predominant limb muscle weakness. The cause of the disease was unknown for a long time. Recen...
Dipti Baskar,Seena Vengalil,Kiran Polavarapu et al.
Dipti Baskar et al.
Introduction: Titinopathies are heterogenous group of disorders affecting the skeletal and cardiac muscles variably and caused by Titin (TTN) gene mutations located in Chromosome 2. The manifestations extend from congenit...
A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research [0.03%]
脊髓性肌萎缩症中注册表的最新审查：临床研究中的宝贵资源
Lakshmi Balaji,Michelle A Farrar,Eppie M Yiu et al.
Lakshmi Balaji et al.
Since 2016/17, three disease modifying therapies for spinal muscular atrophy (SMA) have been translated into clinical practice. This has driven the implementation of newborn screening to transform health outcomes and clinical practice. SMA ...