In response to Gulcin Akinci's and Haluk Topaloglu's letter regarding our article "Predictors of loss of ambulation in Duchenne muscular dystrophy: A systematic review and meta-analysis" [0.03%]
针对Gulcin Akinci和Haluk Topaloglu关于我们的文章《杜氏肌营养不良丧失行动能力的预后因素：系统评价与荟萃分析》一文的来信回应
E Landfeldt,A Alemán,S Abner et al.
E Landfeldt et al.
Dipti Baskar,Suma Reddy Ganji,Aneesha Thomas et al.
Dipti Baskar et al.
Mitochondrial Calcium Uptake 1 (MICU1) is an important component of mitochondrial calcium channel regulator. Mutations in MICU1 result in a rare syndrome of myopathy with extrapyramidal features. Here we report a rare case of MICU1 related ...
Mutational and clinical spectrum of myofibrillar myopathy in one center from China [0.03%]
一例来自中国的肌原纤维肌病的突变和临床谱分析
Qi Wang,Peng Sun,Meng Yu et al.
Qi Wang et al.
Background: Myofibrillar myopathy (MFM) is a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk and disintegration of myofibrils. OBJECTIVE: We aimed to analyze the mutational spectrum ...
Peripheral defects precede neuromuscular pathology in the Smn2B/- mouse model of spinal muscular atrophy [0.03%]
在Smn2B/-脊髓肌萎缩症小鼠模型中，外周缺陷先于神经肌肉病理出现
Aoife Reilly,Ariane Beauvais,Majd Al-Aarg et al.
Aoife Reilly et al.
Background: Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease caused by the loss or mutation of the survival motor neuron 1 (SMN1) gene. Though classically regarded as a motor neuron disorder, report...
Serum neurofilament light chain levels in patients with small-fiber neuropathy [0.03%]
小纤维神经病患者的血清神经营养轻链水平
Daniela Noa Zohar,Daria Keren,Lamis Qassim et al.
Daniela Noa Zohar et al.
Background: Serum neurofilament light chain (sNfL) levels are an increasingly employed tool for the assessment of active axonal injury in a variety of neurological disorders including polyneuropathy. Injury to the small n...
Sergey N Bardakov,Roman V Deev,Vadim A Tsargush et al.
Sergey N Bardakov et al.
Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the DYSF gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemi...
International collaboration to improve knowledge on myotonic dystrophy type 2 [0.03%]
改善2型肌强直性营养不良认识的国际合作
Stojan Peric,Vukan Ivanovic,Emma-Jayne Ashley et al.
Stojan Peric et al.
Background: The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical tria...
Newborn screening programs for spinal muscular atrophy worldwide in 2023 [0.03%]
全球2023年脊髓性肌萎缩症新生儿筛查项目
Eva Vrščaj,Tamara Dangouloff,Damjan Osredkar et al.
Eva Vrščaj et al.
Background: Spinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screenin...
Gross motor delays in infants and young boys with Duchenne muscular dystrophy [0.03%]
杜氏肌营养不良婴儿和年轻男孩的粗大运动障碍
Linda P Lowes,Natalie F Reash,Megan A Iammarino et al.
Linda P Lowes et al.
Background: Duchenne muscular dystrophy (DMD), an X-linked progressive neurodegenerative disorder, is being added to required universal screening programs for newborns in the United States. It is estimated that this will ...