Results 71 to 80 of about 244,000 (312)

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

Molecular Autism, 2019
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene ...
Monica Sonzogni, Johanna Hakonen, Mireia Bernabé Kleijn, Sara Silva-Santos, Matthew C. Judson, Benjamin D. Philpot, Geeske M. van Woerden, Ype Elgersma   +7 more
doaj   +1 more source

Circular RNAs arising from synaptic host genes during human neuronal differentiation are modulated by SFPQ RNA-binding protein

BMC Biology, 2023
Background Circular RNA (circRNA) molecules, generated through non-canonical back-splicing of exon-exon junctions, have recently been implicated in diverse biological functions including transcriptional regulation and modulation of protein interactions ...
Michelle E. Watts, Marika Oksanen, Sanna Lejerkrans, Francesca Mastropasqua, Myriam Gorospe, Kristiina Tammimies   +5 more
doaj   +1 more source

A Human Neural Tube Model Using 4D Self‐Folding Smart Scaffolds

Advanced Healthcare Materials, EarlyView.
Induced pluripotent stem cells (iPSCs) exhibit features comparable to the inner cell mass of the human embryo. iPSCs are applied to a novel self‐folding 4D‐Neural Tube (4D‐NT) structure that mimics the neurulation process. This 4D‐NT model recapitulates early events of human neural development and represents a platform to explore neurodevelopmental ...
Claudia Dell'Amico, Irene Chiesa, Angela Toffano, Alessio Esposito, Piera Mancini, Chiara Magliaro, Angeliki Louvi, Carmelo De Maria, Marco Onorati   +8 more
wiley   +1 more source

Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]

, 2014
The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia, Giulivi, Cecilia, Napoli, Eleonora   +2 more
core   +1 more source

Modular Platform for Rapidly Investigating Long‐Distance Propagation of Human Neural Network Activity

Advanced Healthcare Materials, EarlyView.
This study presents the first human neural organoid culture model capable of rapidly exhibiting long‐distance neural network propagation, thus delivering a system to experimentally investigate large‐scale communication during normal and diseased states.
Megh Dipak Patel, Sailee Sham Lavekar, Ronak Jaisalmeria, Suki Oji, Jazmine Jayasi, Caroline Cvetkovic, Robert Krencik   +6 more
wiley   +1 more source

Construct validity and reliability of the Dementia Test for People with Intellectual Disability: neuropsychological test battery for assessing cognitive functioning in people with intellectual disability

BJPsych Open
Background People with an intellectual disability are vulnerable to additional disorders such as dementia. Psychometrically sound and specific instruments are needed for assessment of cognitive functioning in cases of suspected dementia.
Tanja Sappok, Miriam Flachsmeyer, Peggy Rösner, Björn Kruse, Sandra-Verena Müller, Daria Tarasova   +5 more
doaj   +1 more source

Epigenetics and Neuroinflammation Associated With Neurodevelopmental Disorders: A Microglial Perspective [PDF]

, 2022
Munekazu Komada, Yuhei Nishimura
openalex   +1 more source

Antibiotic use during pregnancy and neurodevelopmental outcomes of offspring in early childhood [PDF]

, 2020
There is limited research on the effects of antibiotic use during pregnancy on neurodevelopmental outcomes of offspring in early childhood. The aim of this study was to investigate associations between antibiotic use during early pregnancy and ...
Gamache, Tressa
core  

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients [PDF]

, 2014
Background Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23.
A Antonell, A Karmiloff-Smith, A Karmiloff-Smith, A Karmiloff-Smith, AD Smith, AE Richardson, Annette Karmiloff-Smith, B Landau, BR Pober, C Fusco, C Schubert, CA Morris, CC Hoogenraad, CD Elliott, D Voyer, D Wechsler, E Mellet, EJ Young, EK Farran, EK Farran, EK Farran, EK Farran, EK Farran, Emily K Farran, Emma Meaburn, Esther Chin, Francis Sansbury, G Vandeweyer, H Hirota, Hannah Broadbent, HJ Broadbent, HJ Broadbent, HR Purser, J Bullens, J Bullens, J Fenner, J Huttenlocher, J Raven, J Van Herwegen, JM Frangiskakis, JM Zacks, JR Crawford, JR Crawford, JR Pani, K Iglói, K Iglói, Kay Metcalfe, L Dai, LR Osborne, M Bayes, M Castelo-Branco, M Fayasse, M Hegarty, M Hegarty, M Kozhevnikov, M Nardini, M Nardini, M Tassabehji, M Tassabehji, MA Porter, May Tassabehji, N Newcombe, Peter Turnpenny, RN Shepard, U Bellugi, U Koehler, V Gray, Y Meng, Z Urban   +68 more
core   +3 more sources

Evaluation of the Dual Impact of Nanotechnologies on Health and Environment Through Alternative Bridging Models

Advanced Healthcare Materials, EarlyView.
This review explores how alternative invertebrate and small‐vertebrate models advance the evaluation of nanomaterials across medicine and environmental science. By bridging cellular and organismal levels, these models enable integrated assessment of toxicity, biodistribution, and therapeutic performance.
Marie Celine Lefevre, Margherita Bernardeschi, Matteo Battaglini, Gianni Ciofani   +3 more
wiley   +1 more source