Results 221 to 230 of about 348,390 (367)

Developmental Outcome at 36 Months in Tuberous Sclerosis: Are There any Modifiable Predictors? [PDF]

Epilepsy Curr
Joshi C.
europepmc   +1 more source

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. [PDF]

, 1996
Radek Vrtěl, Senno Verhoef, K. Bouman, Magitha M. Maheshwar, Mark Nellist, Anthonie J. van Essen, Petra L. Bakker, Caroline Hermans, Margreet Th.E. Bink‐Boelkens, Ruurd M. van Elburg, M. Hoff, Dick Lindhout, Julian R. Sampson, D. J. J. Halley, A M van den Ouweland   +14 more
openalex   +1 more source

Presbycusis: Pathology, Signal Pathways, and Therapeutic Strategy

Advanced Science, Volume 12, Issue 29, August 7, 2025.
In ARHL, the stria vascularis, acting as a cochlear battery, gradually loses its ability to maintain the endocochlear potential, leading to impaired hair cell function and progressive hearing loss. Single‐cell sequencing reveals age‐related cellular changes in the cochlea, providing insights into the underlying mechanisms of aging and potential ...
Xiaoxu Zhao, Tian Shen, Shengda Cao, Ziyi Liu, Wendu Pang, Meixuan Li, Jingjing Liu, Wen Li, Yunhao Wu, Chengcheng Liu, Ming Xia, Xiaolong Fu, Cheng Cheng   +12 more
wiley   +1 more source

Tuberous Sclerosis Complex-Associated Tubulointerstitial Kidney Disease. [PDF]

Kidney Int Rep
Sakhi H, Isnard P, Boudhabhay I, Correas JM, Burtey S, Joly D, Knebelmann B, Servais A.   +7 more
europepmc   +1 more source

Prevalence of tuberous sclerosis in UK [PDF]

, 1998
PJ Morrison, CH Shepherd, FJ Stewart, NC Nevin   +3 more
openalex   +1 more source

Poorly Differentiated Aggressive Sacral Chordoma With Upfront Lung Metastases in a Child—A Case Report

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Poorly differentiated chordoma is a very unique type of chordoma with a particularly aggressive clinical course and high metastatic potential. It almost exclusively affects children and young adolescents. Unlike conventional chordomas, poorly differentiated chordomas cannot be well controlled with surgery and radiation therapy. Systemic agents
Shubham Dokania, Sambit S. Nanda, Shashikant C. U. Patne, Shabana Azad, Rahul Sisodiya, Ashutosh Mukherji   +5 more
wiley   +1 more source

A bitopic mTORC inhibitor reverses phenotypes in a tuberous sclerosis complex model. [PDF]

Sci Rep
Mukherjee S, Wolan MJ, Scott MK, Riley VA, Sokolov AM, Feliciano DM.   +5 more
europepmc   +1 more source

Laughing seizures due to a midline intraventricular neoplasm in tuberous sclerosis. [PDF]

, 1995
Saman B. Gunatilake, D G De Silva
openalex   +1 more source

Tuberous Sclerosis

International Journal of Clinical Practice, 1963
I A, SALEEM, N H, WADIA, W D, SULAKHE
openaire   +2 more sources

Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population

International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.
This study is the first to report clinical and paraclinical profiles of autism spectrum disorder (ASD) in Algeria, as well as the prenatal, perinatal and postnatal factors. Findings were similar to other countries. The study highlights the need for increased awareness and training to improve early recognition of ASD in Algeria. ABSTRACT Autism spectrum
Ourida Loumi, Christian R. Andres
wiley   +1 more source