Results 281 to 290 of about 121,688 (385)

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]

open access: yesBMC Neurol
Svoboda MD   +7 more
europepmc   +1 more source

Progress of non‐motor symptoms in early‐onset Parkinson's disease

open access: yesIbrain, EarlyView.
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]

open access: yesInt J Mol Sci
Antonakoudis A   +7 more
europepmc   +1 more source

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

open access: yesInterdisciplinary Medicine, EarlyView.
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

New insights into applications of base editor in hereditary disorders

open access: yesInterdisciplinary Medicine, EarlyView.
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]

open access: yesInt J Mol Sci
Gorji AE   +6 more
europepmc   +1 more source

The prevalence and predictive factors of overlapping disorders of gut–brain interaction and celiac disease in children

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
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

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