Accès ouvert
2026
article
OpenAlex
Lisa Moore-Ramdin, Agnies M. van Eeghen, Joanne Stevens, Pooja Takhar et autres
BACKGROUND: [EU], 100 mg/mL oral solution) on TAND, including behavioral outcomes, in participants with TSC-associated seizures. EpiCom was designed in collaboration with the TSC community including patients, caregivers, and healthcare professionals (HCPs), to incorporate stakeholder perspectives into study design and execution. OBJECTIVE: …
it, nl, us, gb
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Laura Mantoan Ritter, Nicholas M. P. Annear, Emma L. Baple, Leila Y. Ben-Chaabane et autres
Mechanistic target of rapamycin (mTOR) is a highly conserved serine/threonine kinase that regulates key cellular processes including cell growth, autophagy and metabolism. Hyperactivation of the mTOR pathway causes a group of rare and ultrarare genetic diseases. mTOR pathway diseases have diverse clinical …
gb, be, us
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Renuka Dias, Kristian Brock, Kun Hu, Rajat Gupta et autres
Introduction Wolfram syndrome ( WFS1- Spectrum Disorder) is an ultra-rare monogenic form of progressive neurodegeneration and diabetes mellitus. In common with most rare diseases, there are no therapies to slow or stop disease progression. Sodium valproate, an anticonvulsant with neuroprotective properties, is …
gb, fr, au, es, pl, nl
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Mark Edwards, Gordon Forbes, Neil Walker, Dion Morton et autres
INTRODUCTION: Postoperative morbidity and mortality in patients undergoing major emergency gastrointestinal surgery are a major burden on healthcare systems. Optimal management of perioperative intravenous fluids may reduce mortality rates and improve outcomes from surgery. Previous small trials of cardiac-output guided haemodynamic therapy …
gb
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Hanna Skrobanski, Kishan Vyas, Sally Bowditch, Lena Hubig et autres
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic condition commonly accompanied by neurological and neuropsychological disorders, resulting in a high burden of illness for individuals and a substantial impact on their caregivers. Due to the diversity and complexity of clinical manifestations, …
gb, us, it, fr
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Hanna Skrobanski, Kishan Vyas, Sally Bowditch, Lena Hubig et autres
INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare multisystem genetic condition characterised by benign tumours; prevalent manifestations include epilepsy and neuropsychiatric disorders. This study examined the burden of TSC for primary caregivers and families, exploring the impact of characteristics such as seizures. …
gb, us
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Marie Monaghan, Pooja Takhar, Luke Langlands, Markus Knuf et autres
Tuberous Sclerosis Complex (TSC) is a genetic condition which leads to a loss of inhibition of cellular growth. Facial angiofibromas (FAs) are hamartomatous growths associated with TSC that appear as multiple small, erythematous papules on the skin of the face and may …
gb
(code pays fourni par la source)