Results 141 to 150 of about 521,397 (316)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
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
Program for Education and Enrichment of Relational Skills: Parental Outcomes with an ADHD Sample [PDF]
, 2016 The goal of the current study was to examine the effect of PEERS®, a 14-week parent-assisted friendship-building program for adolescents with ADHD, on parental functioning, quality of the parent-adolescent relationship, and family functioning ...
Gonring, Kelsey
core +1 more source
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
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
Parenting Latino Toddlers and Preschoolers: Clinical and Nonclinical Samples [PDF]
, 2008 Parenting practices contribute significantly to the social-emotional development of young children. There is limited literature that addresses the role of culture in parenting, particularly among Latino families who have very young children with ...
Fox, Robert A., Perez, Marie E.
core +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
Improving children's behaviour and attendance at school through the use of parenting programmes: an examination of practice in five case study local authorities [PDF]
, 2006 he Anti-Social Behaviour Act 2003 introduced new powers for Local Authorities (LAs) to apply for a parenting order to help address children?s poor behaviour in schools.
Hallam, Susan, Rogers, Lynne
core +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
Annals of Clinical and Translational Neurology, EarlyView.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
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source