Publications by authors named "Simone F Reiter"
Article Synopsis
- The study investigated the clinical characteristics and genetic variations associated with the DHX30-related neurodevelopmental disorder, especially focusing on new missense variants in the gene.
- Researchers collected clinical and genetic data from affected individuals via social media, collaboration networks, and analyzed the effects of these variants on cellular functions and development using various experimental models, including zebrafish.
- Findings revealed that individuals with missense variants presented with severe developmental issues, while those with variants leading to milder haploinsufficiency showed less severe symptoms, suggesting the presence of two distinct clinical subtypes based on the type and location of the genetic variants.
Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.
Methods: The clinical and genetic information were collected through GeneMatcher collaboration.
Background: Whether antidiabetic glitazone drugs protect against Parkinson's disease remains controversial. Although a single clinical trial showed no evidence of disease modulation, retrospective studies suggest that a disease-preventing effect may be plausible. The objective of this study was to examine if the use of glitazone drugs is associated with a lower incidence of PD among diabetic patients.
View Article and Find Full Text PDFObjective: The aim of this study was to investigate life satisfaction in women with epilepsy during and after pregnancy.
Methods: The study was based on the Norwegian Mother and Child Cohort Study, including 102,265 women with and without epilepsy from the general population. Investigation took place at pregnancy weeks 15-19 and 6 and 18months postpartum.
Objectives: To investigate psychiatric disorders, adverse social aspects and quality of life in men with epilepsy during partner's pregnancy.
Method: We used data from the Norwegian Mother and Child Cohort Study, including 76,335 men with pregnant partners. Men with epilepsy were compared to men without epilepsy, and to men with non-neurological chronic diseases.
Purpose: The aim was to investigate the prevalence of eating disorders and its relation to pregnancy and delivery complications in childbearing women with epilepsy (WWE).
Method: This study is based on The Norwegian Mother and Child Cohort Study (MoBa) linked to the Medical Birth Registry of Norway. Epilepsy was reported in 706 pregnancies.
Objective: The objective of this study was to investigate psychiatric disease and social aspects in young women with epilepsy before and during pregnancy.
Method: The study included self-reported data from 106,935 pregnancies.
Results: Seven hundred eleven women reported having epilepsy, and 45.
Background: Mental health consequences related to divorce have been documented, but might be caused by concomitant factors such as conflicts and loss of parental contact (PC). We investigated these relationships and mental health among adolescents.
Methods: The study was based on data from four cross-sectional surveys carried out between 1997 and 2009 among tertiary school students in Førde, Norway.