Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability

AR Müller, NY van Silfhout… - … advances in rare …, 2024 - journals.sagepub.com
Background: Individuals with genetic neurodevelopmental disorders (GNDs) or intellectual
disability (ID) are often affected by complex neuropsychiatric comorbidities. Targeted …

[HTML][HTML] Identification of hub genes significantly linked to tuberous sclerosis related-epilepsy and lipid metabolism via bioinformatics analysis

W Weiliang, R Yinghao, H Weiliang, Z Xiaobin… - Frontiers in …, 2024 - frontiersin.org
Background Tuberous sclerosis complex (TSC) is one of the most common genetic causes
of epilepsy. Identifying differentially expressed lipid metabolism related genes (DELMRGs) …

[HTML][HTML] Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X …

AR Müller, B den Hollander, PM van de Ven… - BMC psychiatry, 2024 - Springer
Background Many rare genetic neurodevelopmental disorders (RGNDs) are characterized
by intellectual disability (ID), severe cognitive and behavioral impairments, potentially …

[PDF][PDF] Cannabidiol (Epidyolex

AR Müller, B den Hollander, PM van de Ven… - 2023 - bmcpsychiatry.biomedcentral.com
Background Many rare genetic neurodevelopmental disorders (RGNDs) are characterized
by intellectual disability (ID), severe cognitive and behavioral impairments, potentially …

[PDF][PDF] The Relationship Between Tuber Load and White Matter Pathways in Children with Tuberous Sclerosis Complex: A Diffusion Tensor Imaging Study

B Atasoy - 2024 - abcresearch.net
Objective: The aim of our study was to investigate whether there are diffusion tensor imaging
(DTI) changes in the white matter pathways and to determine its relationship with tuber load …