Results 81 to 90 of about 282,128 (301)

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Neurodegeneration with brain iron accumulation

open access: yesAnnals of Indian Academy of Neurology, 2019
The term NBIA encompasses a heterogeneous group of inherited disorders characterized clinically by progressive extra pyramidal syndrome and pathologically by excessive iron deposition in brain, primarily affecting the basal ganglia (globus pallidus ...
Amit Batla, Chandana Gaddipati
doaj   +1 more source

Elicited imitation as a window into developmental stages [PDF]

open access: yes, 2019
In the second language acquisition literature, data of naturally occurring language use are considered the most ideal data to make statements about second-language (L2) development.
Baten, Kristof, Cornillie, Frederik
core   +2 more sources

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

open access: yesFEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Creating a Development-Oriented Social, Movement and Language Skills Program: Investigating its Effectiveness on Improving the Developmental Indicators of Children with Global Developmental Delay [PDF]

open access: yesپژوهش‌های کاربردی روانشناختی
The objective of this study was to evaluate the efficacy of the development-oriented social, movement, and language skills program in enhancing the developmental indicators of children with Global Developmental Delay (GDD). The research design is a mixed-
Masoumeh Zabeti Arani   +3 more
doaj   +1 more source

Behavior Problems in Toddlers With and Without Developmental Delays: Comparison of Treatment Outcomes [PDF]

open access: yes, 2009
The purpose of this study is to examine the effectiveness of an in-home parent management program for toddlers with behavior problems and developmental delays by comparing outcomes for a group of toddlers with developmental delays (n = 27) and a group of
Carrasco, Jennifer M   +3 more
core   +1 more source

Screening for Intellectual Disability in Children: A Review of the Literature [PDF]

open access: yes, 2011
BACKGROUND: Early identification of possible intellectual disability can help children and families access appropriate services and support more quickly. There has been an increasing interest in the use of screening tools for this purpose.
McKenzie, Karen, Megson, Paula
core   +1 more source

Diversity and complexity in neural organoids

open access: yesFEBS 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

Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV

open access: yesFrontiers in Genetics
CTNNB1, which encodes β-catenin, plays an essential role in the Wnt signaling pathway and regulates cellular homeostasis. Mutations in this gene can lead to neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV).
Eojin Lee   +2 more
doaj   +1 more source

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features.
Maja Tarailo‐Graovac   +12 more
doaj   +1 more source

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