Results 151 to 160 of about 2,462,658 (261)

MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice

Nature Communications, 2017
Rett syndrome is associated with impaired synaptic connectivity beginning in early development. Here the authors show in female mice heterozygous forMecp2, a model of Rett syndrome, that during adulthood, auditory cortex plasticity associated with a ...
Keerthi Krishnan, Billy Y. B. Lau, Gabrielle Ewall, Z. Josh Huang, Stephen D. Shea   +4 more
doaj   +1 more source

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

PLoS ONE, 2013
Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation ...
Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga, Simone Furini, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Maria Antonietta Mencarelli, Joussef Hayek, Ilaria Meloni, Francesca Ariani, Francesca Mari, Alessandra Renieri   +17 more
doaj   +1 more source

Structure‐Guided Engineering of a Promiscuous O‐Methyltransferase for a SAM Regeneration Biocatalysis Platform of Methylated Pharmaceuticals

Advanced Science, Volume 13, Issue 13, 3 March 2026.
A substrate promiscuous and regioselective O‐methyltransferase, SmOMT, is functionally and structurally characterized. A double mutant, SmOMTE152A/I306A, exhibited enhanced catalytic activity. By coupling this mutant with a mutant halide methyltransferase, AtHMTV140T, for SAM regeneration, a superior artificial fusion enzyme, AtHMTV140T‐L95‐SmOMTE152A ...
Xiran Xiong, Jun Song, Shihan Li, Lu Jin, Qi He, Baohui Zhang, Yan Cao, Shanyong Yi, Yanfang Yang, Xiang Li, Juan Li, Wei Huang   +11 more
wiley   +1 more source

Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]

, 2013
Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core   +1 more source

Expert Consensus on Real‐World Use of Trofinetide for Rett Syndrome Using a Modified Delphi Method

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 38-51, March 2026.
ABSTRACT Objective Trofinetide is the first approved treatment for Rett syndrome (RTT) in the United States and Canada. Trofinetide improved the core symptoms of RTT in clinical trials, and real‐world evidence supports the findings of clinical trials.
Erin O'Connor Prange, Arthur Beisang, Davut Pehlivan, Bernhard Suter, Paula Schleifer   +4 more
wiley   +1 more source

Understanding Rett Syndrome: Genetic, clinical and therapeutic perspectives - literature review

Journal of Education, Health and Sport
Introduction and Objective: Rett syndrome (RTT) is a genetic neurodevelopmental disorder that predominantly affects the female. The disease develops after 6 months of age causing abnormalities in the child's development.
Sylwia Urbańska, Aleksandra Witas, Martyna Borowska-Łygan, Justyna Pięta   +3 more
doaj   +1 more source

Systematic review: Safety and efficacy of atomoxetine in children and adolescents with autism spectrum disorder

JCPP Advances, Volume 6, Issue 1, March 2026.
This systematic review aimed to assess the current evidence on the efficacy and safety of Atomoxetine in common clinical symptoms of autism spectrum disorder (ASD) for children and adolescents. With limited studies available, there is a need for more high‐power studies for the use of Atomoxetine in children and adolescents with autism spectrum disorder.
Nihit Gupta, Daniel Boyes, Hunter Hanlon‐Taylor, Mayank Gupta   +3 more
wiley   +1 more source

Huntington's Disease and Huntington's Disease‐like 2 (HDL2) in Martinique

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 673-682, March 2026.
ABSTRACT Background Huntington's Disease‐like 2 (HDL2), caused by a CAG repeat expansion in JPH3, closely resembles HD. All reported HDL2 patients to date have some African ancestry. While both disorders exist in the Caribbean, their relative frequency and clinical characteristics remain largely unknown.
Ignacio Antolin‐Sanfeliz, Anna‐Gaelle Giguet‐Valard, Sophie Duclos, Cécile Cazeneuve, Chloé Angelini, Aïssatou Signaté, Russell L. Margolis, Cyril Goizet, Rémi Bellance   +8 more
wiley   +1 more source

Folinic Acid Supplementation in Folate Receptor Alpha Autoantibodies‐Positive Pregnancy: A Pilot Randomized Study on Neurodevelopmental Outcomes

Reproductive, Female and Child Health, Volume 5, Issue 1, March 2026.
ABSTRACT Background Folate receptor alpha autoantibodies (FRAAs) during pregnancy may impair placental folate transport, contributing to cerebral folate deficiency and increasing the risk of neurodevelopmental disorders such as autism spectrum disorder (ASD).
Claudio Giorlandino, Alvaro Mesoraca, Katia Margiotti, Marco Fabiani, Marina Cupellaro, Francesca Giorlandino, Maria Luisa Mastrandrea, Raffaella Raffio, Francesco Pignataro, Lucia Mangiafico, Laura D'Emidio, Claudio Coco, Vincenzo Milite   +12 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source