Results 101 to 110 of about 10,322,817 (363)

Clinical Findings and Dental Manifestations Associated With Microcephalic Osteodysplastic Primordial Dwarfism Type II: A Case Report

open access: yesJournal of Pediatrics Review, 2022
Background: Microcephalic Osteodysplastic Primordial Dwarfism type 2 (MOPD II) is a rare untreatable genetic disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, bird-headed face (receding forehead and chin, a ...
Bahareh Nazemi Salman   +3 more
doaj  

Language growth in very young siblings at risk for autism spectrum disorder [PDF]

open access: yes, 2019
Background Children with autism spectrum disorder (ASD) show substantial variability in their language development. Language problems are highly prevalent in these children.
Beyers, Wim   +7 more
core   +1 more source

Screening for fetal growth disorders by clinical exam in the era of obesity

open access: yesJournal of Perinatology, 2012
Objective:To evaluate the performance of clinical estimation of fetal weight as a screening test for fetal growth disorders and then to estimate the effect of maternal body mass index (BMI) on its screening efficiency.Study Design:This was a ...
K. Goetzinger   +5 more
semanticscholar   +1 more source

Aβ42 promotes the aggregation of α‐synuclein splice isoforms via heterogeneous nucleation

open access: yesFEBS Letters, EarlyView.
The aggregation of amyloid‐β (Aβ) and α‐synuclein (αSyn) is associated with Alzheimer's and Parkinson's diseases. This study reveals that Aβ aggregates serve as potent nucleation sites for the aggregation of αSyn and its splice isoforms, shedding light on the intricate interplay between these two pathogenic proteins.
Alexander Röntgen   +2 more
wiley   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

open access: yesFEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile   +8 more
wiley   +1 more source

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

open access: yes, 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   +2 more
core   +1 more source

Effects of ADAM10 inhibitor on synaptic structure and blood-brain barrier permeability in rats with autism-like behavior

open access: yes陆军军医大学学报
Objective To investigate the effects of a disintegrin and metalloprotease domain 10 (ADAM10) inhibitor on synaptic structure and blood-brain barrier (BBB) permeability in rats with autism-like behavior.
YANG Jingyuan, LI Xiaoli, WU Chunyan
doaj   +1 more source

Language growth in children with heterogeneous language disorders: a population study

open access: yesJournal of Child Psychology and Psychiatry and Allied Disciplines, 2017
Background Language development has been characterised by significant individual stability from school entry. However, the extent to which trajectories of language growth vary in children with language disorder as a function of co‐occurring developmental
C. Norbury   +6 more
semanticscholar   +1 more source

Serial amplification of tau filaments using Alzheimer's brain homogenates and C322A or C322S recombinant tau

open access: yesFEBS Letters, EarlyView.
We investigated the seeded assembly of 0N3R tau and two variants, C322A and C322S, designed to model the mutation landscape at residue 322, using Alzheimer's disease brain homogenates in a real‐time quaking‐induced conversion (RT‐QuIC) assay. The C322A variant formed filaments that partially resembled the paired helical filament (PHF) structure ...
Alessia Santambrogio   +9 more
wiley   +1 more source

VX‐765 alleviates motor and cognitive impairments via inhibiting PANoptosis activation in the neonatal rats after hypoxic–ischemic brain damage

open access: yesPediatric Discovery
Neonatal hypoxia–ischemia (HI) is one of the main factors that cause neonatal severe neurologic impairment and death. Shown by a large number of studies, caspase‐1 plays a significant effect in diseases such as hypoxic–ischemic brain damage (HIBD) and ...
Xiaohuan Li   +5 more
doaj   +1 more source

Home - About - Disclaimer - Privacy