Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]
Svoboda MD+7 more
europepmc +1 more source
The lumbar multifidus : from anatomy to rehabilitation [PDF]
Cagnie, Barbara+2 more
core +1 more source
Progress of non‐motor symptoms in early‐onset Parkinson's disease
This study reviews the research progress related to non‐motor symptoms (NMS) in patients with early onset Parkinson's disease (EOPD), including neuropsychiatric symptoms, autonomic dysfunction, sleep disorders, and sensory disorders and also summarizes the characteristics of NMS in the genetic form of Parkinson's disease (PD).
Fanshi Zhang+5 more
wiley +1 more source
Genetic Basis of Motor Neuron Diseases: Insights, Clinical Management, and Future Directions. [PDF]
Antonakoudis A+7 more
europepmc +1 more source
The Syphilitic Forms of Progressive Muscular Atrophy [PDF]
openaire +3 more sources
Mitochondrial dysfunction: Related diseases, influencing factors, and detection
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li+9 more
wiley +1 more source
Real-world outcomes of spinal muscular atrophy treatment with onasemnogene abeparvovec in Croatia: a comprehensive case series and literature review. [PDF]
Lehman I+3 more
europepmc +1 more source
New insights into applications of base editor in hereditary disorders
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai+8 more
wiley +1 more source
Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy. [PDF]
Gorji AE+6 more
europepmc +1 more source
Abstract Objectives Disorders of gut–brain interaction (DGBI) are increasing in prevalence; however, diagnosis remains challenging in the setting of organic diseases. While adult studies have shown overlap between DGBI and celiac disease (CeD), no United States studies have assessed DGBI prevalence using Rome IV criteria in pediatric CeD.
Andrew Krueger+5 more
wiley +1 more source