Results 111 to 120 of about 24,840 (206)

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, Volume 109, Issue 4, Page 697-706, April 2026.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Personal and Environmental Factors Influencing Self‐Determination of People With Intellectual Disabilities and Epilepsy: A Scoping Review

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 345-363, April 2026.
ABSTRACT Background Epilepsy is a chronic neurological disorder that is prevalent among people with intellectual disabilities, profoundly affecting various aspects of life. Understanding the association between epilepsy and reduced quality of life in this population may benefit from exploring self‐determination, a key dimension of quality of life. Self‐
Alexandra I. Haenen, Noud Frielink, Jans S. van Ool, Francesca M. Snoeijen‐Schouwenaars, Petri J. C. M. Embregts   +4 more
wiley   +1 more source

Tuberous sclerosis complex with multisystem involvement: A case report. [PDF]

J Int Med Res
Chen H, Shi M, Yu Y, Zhang Z, Du Z.
europepmc   +1 more source

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 403-416, April 2026.
ABSTRACT Background Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status.
Nadia Y. van Silfhout, Maud M. van Muilekom, Leonie A. Menke, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen   +5 more
wiley   +1 more source

Development and Validation of an LC–MS/MS Method for the Quantitative Estimation of Bexicaserin in Human Cerebrospinal Fluid

Biomedical Chromatography, Volume 40, Issue 3, March 2026.
ABSTRACT Bexicaserin is an investigational molecule that is a highly selective superagonist of the 5‐hydroxytryptamine 2C (5HT2c) serotonin receptor subtype and in Phase 3 clinical studies for the treatment of seizures associated with developmental and epileptic encephalopathies (DEEs).
Raja Reddy Kallem, Rosa Chan, Katie Neal, Maisy Yeager, Katharine Fletcher, Nuggehally R. Srinivas   +5 more
wiley   +1 more source

Kidneys in Children with Tuberous Sclerosis Complex-An Up-to-Date Review. [PDF]

J Clin Med
Wabik AM, Pytlos J, Michalczewska A, Skrzypczyk P.   +3 more
europepmc   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 64-73, March 2026.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 more
wiley   +1 more source

Shagreen Patch in Tuberous Sclerosis Complex at High-Frequency Ultrasound. [PDF]

Diagnostics (Basel)
Tagliati C, Wortsman X.
europepmc   +1 more source

Durable Disease Control With Nivolumab in Malignant Epithelioid Angiomyolipoma: A Case Report

IJU Case Reports, Volume 9, Issue 2, March 2026.
ABSTRACT Introduction Epithelioid angiomyolipoma is a subtype of perivascular epithelioid cell tumors that may exhibit malignant behavior. While mammalian target of rapamycin inhibitors are commonly used for systemic treatment, the efficacy of immune checkpoint inhibitors remains unclear.
Hiroki Shimoda, Shohei Fukuda, Daiki Yafuso, Kouhei Yamamoto, Yudai Ishikawa, Hiroshi Fukushima, Yuma Waseda, Hajime Tanaka, Soichiro Yoshida, Yasuhisa Fujii   +9 more
wiley   +1 more source