Results 111 to 120 of about 42,064 (302)

Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity [PDF]

open access: yes, 2019
The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is ...
Backe, Sarah J   +11 more
core   +1 more source

Immunity and neuroinflammation in early stages of life and epilepsy

open access: yesEpilepsia, Volume 66, Issue 7, Page 2157-2169, July 2025.
Abstract The immune system is crucial for the correct brain development, and recent findings also point toward central control of immune response. As the immune system is not fully developed at birth, the early years become an important window for infections and for the development of epilepsy.
Angelica Vega García   +5 more
wiley   +1 more source

Medication‐resistant epilepsy is associated with a unique gut microbiota signature

open access: yesEpilepsia, Volume 66, Issue 7, Page 2268-2284, July 2025.
Abstract Objective Dysfunction of the microbiota–gut–brain axis is emerging as a new pathogenic mechanism in epilepsy, potentially impacting on medication response and disease outcome. We investigated the composition of the gut microbiota in a cohort of medication‐resistant (MR) and medication‐sensitive (MS) pediatric patients with epilepsy.
Antonella Riva   +14 more
wiley   +1 more source

Isolated Asymptomatic Fetal Intracardiac Mass: A Case of Rhabdomyoma

open access: yesInternational Medical Case Reports Journal, 2023
Tadesse Gure Eticha,1 Roba Ararso,1 Semir Sultan,1 Kiros Terefe,2 Solomon Wubneh Berhe,2 Temesgen Tsega,3 Yeshiwas Abebe,2 Chernet Baye2 1Department of Obstetrics and Gynecology, Haramaya University, Harar, Ethiopia; 2Department of Obstetrics and ...
Eticha TG   +7 more
doaj  

Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood [PDF]

open access: green, 1999
Senno Verhoef   +11 more
openalex   +1 more source

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study

open access: yesEpilepsia, Volume 66, Issue 7, Page 2253-2267, July 2025.
Abstract Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment ...
Emanuele Cerulli Irelli   +68 more
wiley   +1 more source

Tuberous Sclerosis and Bilateral Renal Angiomyolipomas: A Case Report and Literature Review of Emerging Treatment Strategies

open access: yesCase Reports in Nephrology, 2016
Tuberous sclerosis complex is a rare multisystemic genetic disorder associated with the development of benign hamartomas. Angiomyolipomas are one such characteristic finding that may be seen in 55–80% of tuberous sclerosis complex patients.
Francois Jo-Hoy   +3 more
doaj   +1 more source

Mosaicism in Tuberous Sclerosis Complex

open access: yesPediatric Neurology Briefs, 1999
Six families with mosaicism in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (TSC) genes, TSC1 or TSC2, are reported from the Erasmus University and Hospital, Rotterdam, The Netherlands.
J Gordon Millichap
doaj   +1 more source

Epilepsy Surgery in Children with Tuberous Sclerosis Complex: Presurgical Evaluation and Outcome [PDF]

open access: bronze, 2000
Susan Koh   +12 more
openalex   +1 more source

Deep brain stimulation of the centromedian nucleus for drug‐resistant epilepsy in children: Quality‐of‐life and functional outcomes from the CHILD‐DBS registry

open access: yesEpilepsia, Volume 66, Issue 7, Page 2225-2238, July 2025.
Abstract Objective Deep brain stimulation of the centromedian nucleus of the thalamus (CM‐DBS) is an investigational, off‐label treatment for drug‐resistant epilepsy (DRE) in children. Although emerging evidence supports its safety and efficacy for select indications, the effect of CM‐DBS on quality of life and functional outcomes such as school ...
Karim Mithani   +21 more
wiley   +1 more source

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