Results 31 to 40 of about 1,154 (251)
British Journal of Clinical Pharmacology, EarlyView.Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić +4 more
wiley +1 more source
Precision medicine in paediatrics: Progress and priorities
British Journal of Clinical Pharmacology, EarlyView.Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain +3 more
wiley +1 more source
Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe
British Journal of Clinical Pharmacology, EarlyView.Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis +4 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
Naip (the murine homologue of NAIP) expression during mouse embryogenesis.
, 2000 The childhood spinal muscular atrophies (SMAs) are autosomal recessive neurodegenerative conditions characterized by degeneration of lower motor neurons classified based on the age of onset and clinical severity. Type I is the most common and severe form
Ingram-Crooks, Jennifer.
core +2 more sources
International Journal of Eating Disorders, EarlyView.ABSTRACT Objective Anorexia nervosa (AN) is a serious illness in which more than half of all deaths are due to malnutrition. Critically low energy and protein intake are known causes of massive weight loss, whereas micronutrient deficiencies due to a low‐calorie food pattern remain poorly characterized in children with AN. Micronutrient deficiencies in
Zenaida Iordan +6 more
wiley +1 more source
Investigação da hipertermia maligna em Santa Catarina [PDF]
, 2005 Dissertação (Mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.
Batti, Maria Anita Costa Spindola Bez
core
Анализ социально-экономического бремени спинальной мышечной атрофии в Российской Федерации
, 2021 Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
N. Yu. Kolbina +15 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