Results 51 to 60 of about 276,867 (293)

Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]

, 2017
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego, Colamartino, Marco, DE ANGELIS, Federica, DE JACO, Antonella, Favaloro, FLORES LIETTA, Fiori, Elena, Mango, Dalila, Nistico', ROBERT GIOVANNI, Pascucci, Tiziana   +8 more
core   +2 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

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

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

Genetic and Epigenetic Factors Contributing to Autism Spectrum Disorders [PDF]

, 2009
Autism spectrum disorders represent a group of developmental disorders with strong genetic predisposition, including numerous monogenic disorders and chromosomal abnormalities.
Chung, BHY
core  

Remimazolam Ameliorates Autistic‐Like Behaviors via Suppression of Ferroptosis in VTA Dopaminergic Neurons in a Mouse Model of ASD

Advanced Science, EarlyView.
The ultra‐short‐acting sedative remimazolam has a sustained therapeutic effect on the core symptoms of VPA‐exposed mice. Remimazolam, a GABA agonist, exerts its therapeutic effects by protecting dopamine neurons in the VTA of VPA‐exposed mice. Meanwhile, ferroptosis is the critical mechanism by which remimazolam protects VTA dopaminergic neurons and ...
Yuxin Zhang, Jianwei Lin, Chaoyang Tong, Xin Fu, Mengqin Shan, Yue Huang, Kan Zhang, Jijian Zheng   +7 more
wiley   +1 more source

Trends in Obesity among Iranian Children and Adolescents: 2000–2016

Journal of Tehran University Heart Center, 2020
None
Ensiyeh Jenabi, Salman Khazaei
doaj   +1 more source

The Empathy Imbalance Hypothesis of Autism: A Theoretical Approach to Cognitive and Emotional Empathy in Autistic Development [PDF]

, 2009
There has been a widely held belief that people with autism spectrum disorders lack empathy. This article examines the empathy imbalance hypothesis (EIH) of autism.
Smith, A
core   +1 more source