Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.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
Parental Employment and Child Cognitive Development [PDF]
This study investigates the relationship between parental employment and child cognitive development using data from multiple years of the National Longitudinal Survey of Youth.
Christopher J. Ruhm
core
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Effectiveness of Parental Participation in a Dental Health Program on the Oral Health Status of 8-10-year-old School Children. [PDF]
Int J Clin Pediatr Dent, 2022 Sowmiya Sree RA +5 more
europepmc +1 more source
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants
Annals of Clinical and Translational Neurology, EarlyView.Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold +12 more
wiley +1 more source
Factors Associated With Parental Participation in Family-Centered Rounds. [PDF]
Hosp Pediatr, 2021 Glick AF +5 more
europepmc +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
The Long-term Effects of Maternal Employment on Daughters’ Later Labour Force Participation and Earnings [PDF]
This paper investigates the long-term effects of maternal labour force participation on daughters’ later labour force participation and earnings. The majority of the existing work in this area investigates how current maternal labour force participation ...
Catherine Deri-Armstrong
core
Fifth grade students' perceived and desired level of parental involvement in their education [PDF]
, 1999 Plan BThe primary purpose of this study was to describe the correspondence between fifth grade students’ perceived and desired level of parental involvement in their education, with identification of the specific school-related activities in which ...
Cerni, Angela J.
core
Frontiers in PsychologyIntroductionGlobally, from the age of 14, the dropout rate of young athletes is high in all sports games in Hungary. The reasons for dropping out are complex, however parental support is critical to succeed or continue, especially after failure or injury.
Krisztina Kovács +3 more
doaj +1 more source