Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report [0.03%]
贝克尔型肌营养不良患者的呼吸功能障碍：一系列病例和尸检报告
Madoka Mori-Yoshimura,Yasushi Oya,Hirohumi Komaki et al.
Madoka Mori-Yoshimura et al.
Background: Few studies have examined respiratory dysfunction in patients with Becker muscular dystrophy (BMD). Objective: This study a...
Severe inflammatory myopathy in a pulmonary carcinoma patient treated with Pembrolizumab: An alert for myologists [0.03%]
一例接受派姆单抗治疗的肺癌患者的严重炎症性肌病：对肌病学家的一个警示
L Peverelli,A De Rosa,E Domina et al.
L Peverelli et al.
Immune-related adverse events (irAE) during the administration of immune-checkpoint inhibitors (ICIs) become more evident due to the increased use of these therapies. To remind the importance of early recognition of this phenomenon, we repo...
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio) [0.03%]
利用单分子实时测序技术鉴定和表征剪接缺陷（ PacBio）
Marco Savarese,Talha Qureshi,Annalaura Torella et al.
Marco Savarese et al.
Although DNA-sequencing is the most effective procedure to achieve a molecular diagnosis in genetic diseases, complementary RNA analyses are often required.Reverse-Transcription polymerase chain reaction (RT-PCR) is still a valuable option ...
Facilitators and Barriers to Wearing Hand Orthoses by Adults with Duchenne Muscular Dystrophy: A Mixed Methods Study Design [0.03%]
杜氏肌营养不良成人患者使用手用矫形器的依从性影响因素：一种混合研究方法设计
S L S Houwen-van Opstal,Y M E M van den Elzen,M Jansen et al.
S L S Houwen-van Opstal et al.
Background: To retard shortening of finger flexors in patients with Duchenne muscular dystrophy (DMD), hand orthoses are prescribed. However, many patients do not wear the orthoses regularly. To optimize orthotic interven...
Observational Study
Journal of neuromuscular diseases. 2020;7(4):467-475. DOI:10.3233/JND-200506 2020
Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report [0.03%]
脊髓性肌萎缩症成人患者的结局评估——挑战与未来方向- 会议报告
V A Sansone,M C Walter,S Attarian et al.
V A Sansone et al.
Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease which affects 1 in 6,000-10,000 live births, caused by loss of the survival motor neuron 1 gene (SMN1). A major focus of therapeutic developments has be...
Ganglionopathies Associated with MERRF Syndrome: An Original Report [0.03%]
MERRF综合征相关的ganglionopathy一例报告
Maud Michaud,Tanya Stojkovic,Thierry Maisonobe et al.
Maud Michaud et al.
Neuropathies in Myoclonic Epilepsy with Ragged Red Fibers (MERRF) syndrome are frequent but ganglionopathies have never been reported. We retrospectively identified 24 patients with MERRF mutations in the neuromuscular center Nord/Est/Ile d...
Induction of Skeletal Muscle Progenitors and Stem Cells from human induced Pluripotent Stem Cells [0.03%]
人诱导多能干细胞向骨骼肌干细胞和祖细胞的分化诱导研究
Takahiko Sato
Takahiko Sato
Induced pluripotent stem cells (iPSCs) have the potential to differentiate into various types of cells and tissues including skeletal muscle. The approach to convert these stem cells into skeletal muscle cells offers hope for patients affli...
A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP [0.03%]
PMP22基因的新点突变在一个患有非典型HNPP的家系中发现
T Benquey,E Fockens,L Kouton et al.
T Benquey et al.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder commonly presenting with acute-onset, non-painful focal sensory and motor mono neuropathy. In 80% of cases, the genetic defect is a ...
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study [0.03%]
COL6相关性 dystrophy 中间型和Bethlem型下肢肌肉受累及杜氏肌营养不良的横断面研究
Abhinandan Batra,Donovan J Lott,Rebecca Willcocks et al.
Abhinandan Batra et al.
Collagen VI-related dystrophies (COL6-RDs) and Duchenne muscular dystrophy (DMD) cause progressive muscle weakness and disability. COL6-RDs are caused by mutations in the COL6 genes (COL6A1, COL6A2 and COL6A3) encoding the extracellular mat...
COVID-19 in Refractory Myasthenia Gravis- A Case Report of Successful Outcome [0.03%]
重症肌无力患者的新冠肺炎病例报告及成功治疗经验
Swathi Beladakere Ramaswamy,Raghav Govindarajan
Swathi Beladakere Ramaswamy
This is a brief report of a patient who has refractory Myasthenia Gravis, on multiple long-term immunosuppressive therapies and contracted COVID-19 during this 2020 pandemic. She was quarantined for total of 14 days and recovered successful...