Results 51 to 60 of about 279,548 (296)

Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. [PDF]

, 2014
Autism spectrum disorders (ASDs) are complex and heterogeneous developmental disabilities affecting an ever-increasing number of children worldwide. The diverse manifestations and complex, largely genetic aetiology of ASDs pose a major challenge to the ...
Adamopoulos, Iannis E, Cates, Staci L, Orosco, Lori A, Pleasure, David, Pleasure, Samuel J, Ross, Adam P, Scott, Sean E, Sohn, Jiho, Wu, Dennis, Zarbalis, Konstantinos S   +9 more
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Pre and perinatal predictors on autism spectrum disorders: a case-control study in the west of Iran

Maternal Health, Neonatology and Perinatology
Introduction The constellation of pre and perinatal predictors are introduced as predictor for autism spectrum disorders (ASD), however, the information about the direction and strength of these predictors are lacking in Western, Iran.
Ensiyeh Jenabi, Amir Mohammad Salehi, Erfan Ayubi, Mahdieh Seyedi, Salman Khazaei, Hanieh Jourmand   +5 more
doaj   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

The Autism Toolbox : An Autism Resource for Scottish Schools [PDF]

, 2009
The Autism Toolbox will draw upon a range of practice experience, literature and research to offer guidance for authorities and schools providing for children and young people with Autism Spectrum Disorders (ASD)
Dunlop, Aline-Wendy, Glashan, Lisa, Leask, Alison, Marwick, Helen M., Robinson, Anna, Tait, Charlene   +5 more
core   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

A Qualitative Study of the Effects of the University of Arkansas Autism Support Program [PDF]

, 2017
Individuals who have been diagnosed with autism spectrum disorder are often united by the following characteristics: difficulty communicating and interacting with others, inhibited ability to function socially, difficulty functioning academically or at ...
Post, Jessica
core   +2 more sources

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

Advanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency, Tao Cui, Yimei Cai, Chloe Lok, Rachel E. Nokku, Ruoxian Huang, Grace L. Chu, Yumeng Xie, Saleem W. Abu‐Tayeh, Kaikai He, Chengjie Qiu, Junyi Wang, Paxton M. Paganelli, Ting Wang, Gabrielle Williams, Sreejith Nair, Huadong Pei, Dion K. Dickman, Stefano Vicini, Tingting Wang   +19 more
wiley   +1 more source

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. [PDF]

, 2007
International audienceBACKGROUND: Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35 ...
Joseph D Buxbaum, Guiqing Cai, Gudrun Nygren, Pauline Chaste, Richard Delorme, Juliet Goldsmith, Maria Råstam, Jeremy M Silverman, Eric Hollander, Christopher Gillberg, Marion Leboyer, Catalina Betancur, N Kurotaki, N Huang, N Kurotaki, K Tatton-Brown, JD Morrow, M Zappella, PV Trad, SE Mouridsen, PF Bolton, M Kielinen, GB Schaefer, JH Miles, A Battaglia, S Chakrabarti, J Veenstra-Vanderweele, AR Gupta, C Gillberg, Autism Genome Project Consortium, J Sebat, E Fombonne, JH Miles, DH Geschwind, C Lord, C Gillberg, JD Buxbaum, J Douglas, DJ Waggoner, N Kurotaki, M Cecconi, P Saugier-Veber, P Hoglund, S Turkmen, TM Tong, MM van Haelst, S Tei, TH Wassink, MA Parisi, A Goffin, MG Butler, GE Herman, C Gillberg, PG Williams, MA Manning, TR Cole, S Naqvi, KH Orstavik, CE Steiner, E Redcay, JE Lainhart, A Bailey, J Douglas, L Melchior   +63 more
core   +5 more sources

Paving the Way to Elucidate Hg's Role in Tumorigenesis

Advanced Science, EarlyView.
Tumorigenesis can result from diverse environmental carcinogens. Among them, mercury—a lifelong bioaccumulative Group 2B carcinogen—has tumorigenic potential that remains poorly understood due to confounding co‐exposures and limited organ‐specific data.
Shouying Li, Rong Zhong, Zhenyang Yu, Hualing Fu, Jin Chen, Jia Wei, Ningwei Zhao, Le Qu, Tiantian Li, Wenli Tang, Huan Zhong   +10 more
wiley   +1 more source