Centre for Biomedical Network Research on Rare Diseases

Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease

Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in ATP7B , which encodes a copper transporter. Abnormal ATP7B function leads to copper deposition, mainly in the liver and brain, resulting in hepatic, neurological, and psychiatric impairments. Metabo...

Technical note: reconstructing dose distributions from manually planned electron boosts in breast radiotherapy

Purpose In breast radiotherapy, delivery of manually-calculated electron boosts limits retrospective dose–response analyses as dose distribution is unavailable. This work evaluates the feasibility of reconstructing dose distributions from manually planned electron boosts in breas...

Repetitive Transcranial Magnetic Stimulation for Cocaine Use Disorder: An Observational Study

Background: Cocaine use disorder (CUD) presents high relapse rates and limited treatment options. Repetitive transcranial magnetic stimulation (rTMS) has shown promise, but evidence in clinical practice is scarce. Methods: We conducted a naturalistic retrospective study using med...