Results 141 to 150 of about 342,419 (394)
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
Brain : a journal of neurology, 2013 Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker–Warburg syndrome, to mild forms of adult-onset limb-girdle muscular ...
semanticscholar +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Head &Neck, EarlyView.ABSTRACT Background Segmental tracheal resection is rarely needed for advanced thyroid cancer but is among the most complex, high‐risk thyroid surgeries. Methods Retrospective study of patients undergoing segmental tracheal resection for thyroid cancer at MD Anderson Cancer Center (2005–2024).
Anastasios Maniakas +19 more
wiley +1 more source
New insights into applications of base editor in hereditary disorders
Interdisciplinary 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
JCPP Advances, EarlyView.Abstract Background Health anxiety (HA) is characterized by impairing worry about being or becoming seriously ill. This cross‐sectional study aimed to explore psychological and behavioral correlates of HA compared to other anxiety phenomena in adolescents, that is, with respect to depression, physical symptoms, bodily dissatisfaction, health‐related ...
Charlotte Steen Duholm +6 more
wiley +1 more source
Cardiomyopathies and Arrythmias in Neuromuscular Diseases
CardiogeneticsNeuromuscular diseases (NMDs) encompass various hereditary conditions affecting motor neurons, the neuromuscular junction, and skeletal muscles. These disorders are characterized by progressive muscle weakness and can manifest at different stages of life,
Giuseppe Sgarito +9 more
doaj +1 more source
Ineffectiveness of Selenium in the Treatment of Nutritional Muscular Dystrophy in the Rabbit [PDF]
, 1957 H. H. Draper
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