Results 121 to 130 of about 116,069 (304)
Aims Paediatric pharmacokinetics differ significantly from adults due to age‐related physiological changes, necessitating precise dose adjustments. However, data on therapeutic drug monitoring (TDM) implementation in paediatric setting remain limited.
Gianluca Gazzaniga +20 more
wiley +1 more source
Azoles are first-line antifungal agents known to increase the risk of statin-related myopathy due to drug interactions. However, myopathy events have also been observed in patients using azoles without concurrent statin use, suggesting that azoles may be
Shen’ao Jing +8 more
doaj +1 more source
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core
Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement.
박윤길
core
Abstract Purpose To quantify how often creatine kinase (CK) is measured after newly elevated aminotransferases in statin users, and whether absent CK data are associated with gastroenterology (GI) referrals. Methods Retrospective chart review of adult outpatients on statins with a first alanine/aspartate aminotransferase (ALT/AST) elevation during a 5 ...
Faris Shweikeh +5 more
wiley +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
Background: Monoclonal gammopathies encompass many types of plasma cell proliferative disorders ranging from benign to malignant. Monoclonal gammopathies that meet diagnostic criteria for monoclonal gammopathies of undetermined significance (MGUS) but ...
Anna Bode +3 more
doaj +1 more source
'Cap myopathy' : case report of a family
We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed
Barois, A., +7 more
core +1 more source
Secretopathies emerge as a new class of neurocristopathies
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source

