Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
Help seeking of adolescents when faced with a psychological problem
This thesis explored the help seeking of adolescents. In particular it focused on who adolescents seek help from for particular problems, the relationship between the options they selected, gender, previous help seeking and psychological distress, their ...
de Bruin, Marizanne
core
Chronically Ill adolescents' experiences of communicating with doctors: a qualitative study
PURPOSE To explore the experiences of chronically ill adolescents in communicating with health professionals, including the identification of factors which hinder or facilitate their use of health professionals as an information source.
Beresford, Bryony A. +3 more
core +1 more source
Purpose of review Many of the almost 2 million HIV infections that occurred globally in the last year occurred among adolescents and young people, particularly those from East and Southern Africa and within key populations. Global HIV epidemic control will require that new infections among these youth populations be curtailed.
Pettifor, Audrey +3 more
openaire +3 more sources
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Symptoms and cognitive functions in adolescents in relation to mobile phone use during night [PDF]
Many adolescents tend to leave their mobile phones turned on during night, accepting that they may be awakened by an incoming text message or call. Using self-reported and objective operator recorded mobile phone use data, we thus aimed to analyze how ...
Röösli, Martin +5 more
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
An exploration of the nature of contemporaty adolescents' intimate relationships
Includes bibliographical references.Intimate relationships in adolescence play an important role in psychosocial development and can impact on relationships during adulthood.
Gevers, Aník
core
Relationship Between Basic Human Values and Decision-Making Styles in Adolescents
This paper examines the relationship between decision-making styles and values of Spanish adolescents and analyses the role of age and gender on their use of adaptive and maladaptive decision-making styles.
Javier Páez Gallego +7 more
core +1 more source

