Results 71 to 80 of about 25,034,870 (238)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Cellular expression profile for interstitial cells of cajal in bladder - a cell often misidentified as myocyte or myofibroblast. [PDF]

PLoS ONE, 2012
Interstitial cells of Cajal (ICC) have been identified in urinary bladder of several species, but their presence in mice remains uncertain. Meanwhile, dozens of reports indicate that dysregulation of connexin 43 plays an important role in bladder ...
Weiqun Yu, Mark L Zeidel, Warren G Hill
doaj   +1 more source

Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]

, 2017
Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina, Gao, Feng, Gutmann, David H, Morris, Stephanie M   +3 more
core   +2 more sources

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

Brain Pathology, EarlyView.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood, Gabriel Zangirolani, Jinho Lee, Melanie H. Hakar, Tanaya Neff, Kevin Y. Zhang, Christopher L. Corless   +6 more
wiley   +1 more source

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

Molecular Genetics & Genomic Medicine, 2020
Background Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis type 1 (NF1) are both autosomal dominant disorders with a high rate of novel mutations.
Ramón Peces, Rocío Mena, Yolanda Martín, Concepción Hernández, Carlos Peces, Dolores Tellería, Emilio Cuesta, Rafael Selgas, Pablo Lapunzina, Julián Nevado   +9 more
doaj   +1 more source

The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes [PDF]

, 2017
In contrast to trials of training without intervals (massed training), training trials spaced over time (spaced training) induce a more persistent memory identified as long-term memory (LTM).
Gelb, Bruce, Pagani, Mario Rafael, Rela, Lorena, San Martín, Alvaro   +3 more
core   +1 more source

A Bilateral Vestibular Schwannoma is Not Always Related to Neurofibromatosis Type 2

The journal of international advanced otology, 2023
Bilateral vestibular schwannomas are commonly diagnosed in patients affected by neurofibromatosis type 2, a genetic disease caused by a heterozygous mutation in the gene region encoding neurofibromin-2.
Andi Abeshi, G. Ferri
semanticscholar   +1 more source

Supplementary Figure 2 from Phenotypic Reversion of Invasive Neurofibromin-Deficient Schwannoma by FTS: Ras Inhibition Reduces BMP4/Erk/Smad Signaling

, 2023
Supplementary Figure 2 from Phenotypic Reversion of Invasive Neurofibromin-Deficient Schwannoma by FTS: Ras Inhibition Reduces BMP4/Erk/Smad ...
Marcelo Ehrlich, Yoel Kloog, Batya Barkan   +2 more
openaire   +1 more source

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +1 more source

The Involvement of Neuron-Specific Factors in Dendritic Spinogenesis: Molecular Regulation and Association with Neurological Disorders

Neural Plasticity, 2016
Dendritic spines are the location of excitatory synapses in the mammalian nervous system and are neuron-specific subcellular structures essential for neural circuitry and function. Dendritic spine morphology is determined by the F-actin cytoskeleton.
Hsiao-Tang Hu, Pu-Yun Shih, Yu-Tzu Shih, Yi-Ping Hsueh   +3 more
doaj   +1 more source