Results 101 to 110 of about 799,321 (312)
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
BMC Pregnancy and ChildbirthThis study aimed to examine the trimester-specific association of maternal prenatal physical activities (PA) with risk of preterm birth (PTB). We recruited 2080 women during the first trimester and conducted follow-ups during the second and third ...
Jiajin Hu +9 more
doaj +1 more source
Wage premium of fatherhood and labor supply in Japan [PDF]
Using data from the Japanese Panel Survey of Consumers (JPSC)1994-2006, we examine the effect of child birth on fathers’ wage rates and labor supply in Japan.
Yukawa, Shiho
core +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
On the relationship between period and cohort mortality [PDF]
In this paper I explore the formal relationship between period and cohort mortality, focusing on a comparison of measures of mean lifespan. I consider not only the usual measures (life expectancy at birth for time periods and birth cohorts) but also some
John R. Wilmoth
core
Education, First Occupation and Later Occupational Attainment: Cross-cohort Changes among Men and Women in Britain [PDF]
, 2009 This paper examines cohort and gender differences in occupational attainment in Britain. Using data from the three British Birth Cohort studies, I investigate the process of occupational attainment up to age 34 using a scale based on occupational ...
Bukodi, Erzsebet
core +1 more source
The Birth Cohorts Difference in Depression
Child Indicators Research, 2022 Cohort effect refers to the social phenomenon that a certain event manifests differently depending on a group that is born in the same year or a similar time period. It is important to understand adolescents' depressive symptoms vary from generation to generation.
openaire +2 more sources
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
Risks of hospitalization and drug consumption in children and young adults with diagnosed celiac disease and the role of maternal education: A population-based matched birth cohort study [PDF]
, 2016 Background: Celiac disease (CD) may affect healthcare use in children and young adults. Socio-economic factors may act as a confounder or effect modifier.
Canova, Cristina +6 more
core +6 more sources
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