Audrey El Kaïm,Frédéric Fer,Valérie Decostre et al.
Audrey El Kaïm et al.
Background: Pompe disease is a rare neuromuscular disorder caused by acid alpha-glucosidase deficiency, leading to glycogen accumulation and progressive striated muscle weakness. The 6-minute walk test (6MWT) is commonly ...
The continued promise of genomic technologies and software in neurogenetics [0.03%]
基因组技术和软件在神经遗传学中的持续前景
Isaac Rl Xu,Matt C Danzi,Jacquelyn Raposo et al.
Isaac Rl Xu et al.
The continued evolution of genomic technologies over the past few decades has revolutionized the field of neurogenetics, offering profound insights into the genetic underpinnings of neurological disorders. Identification of causal genes for...
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy [0.03%]
AAV9和AAVrh74抗体在血浆和人类乳汁中的定量与比较：基于腺相关病毒的基因治疗适应性的影响
Carmen Leon-Astudillo,Kirsten Coleman,Stephanie M Salabarria et al.
Carmen Leon-Astudillo et al.
BackgroundThe application of recombinant adeno associated virus (rAAV) in gene therapy is accepted as an effective strategy for the treatment of monogenic diseases. However, eligibility for such therapies is contingent upon the absence or m...
Crystal Jing Jing Yeo,Savitha Ramasamy,F Joel Leong et al.
Crystal Jing Jing Yeo et al.
Artificial intelligence is the future of clinical practice and is increasingly utilized in medical management and clinical research. The release of ChatGPT3 in 2022 brought generative AI to the headlines and rekindled public interest in sof...
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review [0.03%]
非DMD型X连锁神经肌肉疾病的携带者征象和症状：系统性综述
Job Simons,Amanda Dekker,Rosanne Govaarts et al.
Job Simons et al.
Background: It has been known for long that females carrying pathogenic variants in the DMD gene often report symptoms and/or exhibit signs of the disease. However, a notable knowledge gap exists concerning the signs and ...
Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC) [0.03%]
妊娠20周后四例I型肌强直性营养不良(DM1)和一例先天性保泰松症(PMC)患者出现肌肉僵硬并伴随血清肌酸激酶(CK)水平显著升高
Masanobu Kinoshita,Masaomi Yamamoto,Ryuichi Machida et al.
Masanobu Kinoshita et al.
Four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC) developed devastating painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after 20 weeks of gestation. Immediat...
Virginia Arechavala-Gomeza,Andrea López-Martínez,Annemieke Aartsma-Rus
Virginia Arechavala-Gomeza
Inherited muscular dystrophies are a heterogeneous group of diseases, caused by different types of genetic mutations. RNA therapies, and particularly antisense oligonucleotides, offer a palette of therapeutic strategies to either reduce the...
Richard H Roxburgh,Alana Cavadino,Miriam Rodrigues et al.
Richard H Roxburgh et al.
Background: The advent of three effective disease modifying therapies for SMA has highlighted the need to understand the epidemiology of spinal muscular atrophy (SMA) and its disability impact. ...