Results 41 to 50 of about 241,752 (284)

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

Enrichment of human embryonic stem cell-derived V3 interneurons using an Nkx2-2 gene-specific reporter

Scientific Reports, 2023
V3 spinal interneurons are a key element of the spinal circuits, which control motor function. However, to date, there are no effective ways of deriving a pure V3 population from human pluripotent stem cells.
Ieva Berzanskyte, Federica Riccio, Carolina Barcellos Machado, Elizabeth J. Bradbury, Ivo Lieberam   +4 more
doaj   +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  

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

Case Reports in Genetics
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due
Hasan Hasan, Ellery R. Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source

Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome

Frontiers in Psychiatry, 2022
Individuals with the fragile X premutation report symptoms of chronic pain from multiple systems, have increased incidence of comorbid conditions where pain is a prominent feature, and pathophysiology that supports disrupted pain regulation, inflammation,
Devon Johnson, Ellery Santos, Kyoungmi Kim, Kyoungmi Kim, Matthew D. Ponzini, Matthew D. Ponzini, Yingratana A. McLennan, Andrea Schneider, Andrea Schneider, Flora Tassone, Flora Tassone, Randi J. Hagerman, Randi J. Hagerman   +12 more
doaj   +1 more source

A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex. [PDF]

, 2020
BackgroundResearch in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to clinical sites.
Hyde, Carly, Jeste, Shafali S, Kasari, Connie, McDonald, Nicole M, Nelson, Charles A, Pizzano, Maria, Thiele, Elizabeth A   +6 more
core   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism

Orphanet Journal of Rare Diseases, 2018
Background It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised.
Dawn Adams, Richard P Hastings, Clair Alston-Knox, Rina Cianfaglione, Kate Eden, David Felce, Gemma Griffith, Jo Moss, Chris Stinton, Chris Oliver   +9 more
doaj   +1 more source

Subjective experience of episodic memory and metacognition: a neurodevelopmental approach. [PDF]

, 2013
Episodic retrieval is characterized by the subjective experience of remembering. This experience enables the co-ordination of memory retrieval processes and can be acted on metacognitively.
Eustache, F, Guillery-Girard, B, Pauly-Takacs, K, Souchay, C, Wojcik, DZ   +4 more
core   +2 more sources