Results 61 to 70 of about 38,417 (217)
British Journal of Clinical Pharmacology, EarlyView.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
Functional effects of mutations in the skeletal muscle ryanodine receptor type 1 (RYR1) linked to malignant hyperthermia and central core disease [PDF]
, 2006 Malignant hyperthermia (MH) is a pharmacogenetic disorder with autosomal dominant inheritance. In susceptible individuals, a MH crisis may be triggered by commonly used halogenated anaesthetics (halothane, isoflurane) or muscle relaxants ...
Ducreux, Sylvie
core +1 more source
Congenital myopathies: A clinicopathological study of 25 cases
Indian Journal of Pathology and Microbiology, 2008 Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 ...
Jain Deepali +6 more
doaj
PLoS Genetics, 2009 Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current ...
James J Dowling +6 more
doaj +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.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
Developmental Dynamics, EarlyView.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
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
GNE Myopathy with Congenital Thrombocytopenia [PDF]
, 2018 GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case
최영철 +4 more
core
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
, 2018 Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently ...
Anne Boland +21 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source