Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen +7 more
wiley +1 more source
Modelling the potential for parenting skills interventions to reduce inequalities and population prevalence of children's mental health problems: Evidence from the Millennium Cohort Study. [PDF]
SSM Popul Health, 2021 Hope S +5 more
europepmc +1 more source
Parent training programmes can improve parenting skills in parents with intellectual disabilities [PDF]
Journal of Paediatrics and Child Health, 2020 Tamara, May, Katrina, Harris
openaire +2 more sources
Patterns in participation: Factors influencing parent attendance at two, centre-based early childhood interventions [PDF]
, 2018 Interventions training parents of at-risk children have received considerable empirical support but their effectiveness is undermined by low attendance rates.
Boyle, Gemma +6 more
core +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Enhancing Teaching Recovery Techniques (TRT) with Parenting Skills: RCT of TRT + Parenting with Trauma-Affected Syrian Refugees in Lebanon Utilising Remote Training with Implications for Insecure Contexts and COVID-19. [PDF]
Int J Environ Res Public Health, 2021 El-Khani A +6 more
europepmc +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Will Parent Training Reduce Abuse, Enhance Development, and Save Money? Let's Find Out [PDF]
, 2009 Outlines a strategy for testing the feasibility of community-developed parent training initiatives to prevent child abuse and neglect. Calls for a federal grant program to test community-wide implementation of parent training programs in ...
Richard P. Barth, Ron Haskins
core
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