Results 141 to 150 of about 2,296,312 (307)

The effectiveness of music therapy for individuals with Rett syndrome and their families

open access: yesJournal of the Formosan Medical Association, 2019
Background: Patients with Rett syndrome (RTT) present characteristic regression in communication and hand skills, which eventually leads to intellectual and physical disability. Moreover, caregivers of patients with RTT face stressors related to patients’
Ming-Yi Chou   +8 more
doaj   +1 more source

Birth seasonality studies in a large Prader-Willi syndrome cohort. [PDF]

open access: yes, 2019
Prader-Willi syndrome (PWS) is generally due to sporadic paternal deletions of the chromosome 15q11-q13 region followed by maternal disomy 15. Advanced maternal age is more commonly seen in those with maternal disomy 15. Environmental factors (e.g., drug
Butler, Merlin G   +6 more
core   +1 more source

JNK inhibition in Rett Syndrome models

open access: gold, 2021
Clara Alice Musi   +10 more
openalex   +2 more sources

Engineering a Perfusion Bioreactor System for hiPSC‐Derived Progenitor Co‐Culture Capturing Microglial Features in CNS Development

open access: yesBiotechnology and Bioengineering, Volume 123, Issue 2, Page 363-378, February 2026.
The authors report the development of a controlled and scalable 3D co‐culture system combining hiPSC‐derived erythromyeloid progenitors and neurospheres within the Ambr® 250 Modular platform operated with a newly designed perfusion system. This model faithfully recapitulates early microglia–neural interactions, enabling progenitor integration ...
Catarina M. Gomes   +4 more
wiley   +1 more source

Transduction of hematopoietic stem and progenitor cells by an MECP2 lentiviral vector improves Rett syndrome phenotypes

open access: yesFrontiers in Drug Discovery
IntroductionRett Syndrome is a genetic neurodevelopmental disorder caused by decreased levels of MeCP2. Due to mutations in the MECP2 gene, insufficient MeCP2 protein levels lead to clinical phenotypes including the loss of normal movement, decreased ...
Joseph S. Anderson   +4 more
doaj   +1 more source

Rate of complications due to neuromuscular scoliosis spine surgery in a 30-years consecutive series [PDF]

open access: yes, 2017
PURPOSE: The aim of this study was to evaluate the rate of intraoperative and postoperative complications in a large series of patients affected by neuromuscular scoliosis. METHODS: It was a monocentric retrospective study.
CALDERARO, COSMA   +5 more
core   +1 more source

Rett Syndrome- A case report

open access: gold, 2021
Sofia Pimenta   +5 more
openalex   +2 more sources

Neurogenesis and the Epigenetic Landscape: Role of Histone Modifications and Chromatin Remodeling

open access: yesBrain and Behavior, Volume 16, Issue 2, February 2026.
Histone methylation and acetylation modulate gene expression by inducing chromatin condensation or relaxation, which in turn regulates transcriptional activity and impacts neurogenesis. ABSTRACT Aims The purpose of this review is to examine how epigenetic regulation particularly chromatin modification and histone methylation controls gene expression ...
Degisew Yinur Mengistu   +1 more
wiley   +1 more source

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

open access: yesEpilepsia Open, Volume 11, Issue 1, Page 291-321, February 2026.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha   +27 more
wiley   +1 more source

Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene

open access: yesMolecular Genetics & Genomic Medicine, 2019
This study aimed to investigate the new genetic etiologies of Rett syndrome (RTT) or Rett‐like phenotypes.
Jiaping Wang   +5 more
semanticscholar   +1 more source

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