Results 61 to 70 of about 2,462,658 (261)

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

Augmentative and Alternative Communication : AAC, 2020
Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with ...
G. Townend, T. Bartolotta, A. Urbanowicz, Helena Wandin, L. Curfs   +4 more
semanticscholar   +1 more source

Long-term home cage activity scans reveal lowered exploratory behaviour in symptomatic female Rett mice [PDF]

, 2013
<p>Numerous experimental models have been developed to reiterate endophenotypes of Rett syndrome, a neurodevelopmental disorder with a multitude of motor, cognitive and vegetative symptoms. Here, female Mecp2Stop mice [1] were characterised at mild
Abdala, Adachi, Alvarez-Saavedra, Alvarez-Saavedra, Amir, Andrea Plano, Bissonette, Bissonette, Bissonette, Blardi, Caeyenberghs, Chahrour, Chao, Chen, De Filippis, De Filippis, De Filippis, de Visser, Edelsbrunner, Fyffe, Gemelli, Gernot Riedel, Giacometti, Glaze, Gotoh, Guy, Guy, Hagberg, Hagberg, Jugloff, Kazlaukas, Kerr, Kondo, Langthorne, LaSalle, Lianne Robinson, Lonetti, McGill, Moretti, Motulsky, Mount, Murakami, Nagarajan, Niedermeyer, Niedermeyer, Nomura, Pelka, Piazza, Pilcová, Plomin, Pratte, Reiss, Ricceri, Riedel, Robinson, Samaco, Samaco, Santos, Saywell, Shahbazian, Stearns, Stuart Cobb, Theander-Carrillo, Watson, Young, Young, Zappella   +66 more
core   +1 more source

Hand Stereotypies in Rett Syndrome

Pediatric Neurology Briefs, 2020
Researchers from the Rett Syndrome Natural History Study organized a longitudinal study across the United States of America with the aim to characterize hand stereotypies in patients with Rett syndrome.
Matheus G Ferreira, Helio A. G. Teive
doaj   +1 more source

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder

Brain : a journal of neurology, 2019
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding ...
A. Banerjee, Meghan T. Miller, Keji Li, M. Sur, W. Kaufmann   +4 more
semanticscholar   +1 more source

Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models

Nature Communications, 2021
MeCP2 mutations can cause Rett syndrome, a severe childhood neurological disorder. Here the authors show that MeCP2 mediates the higher-order assembly of a large splicing complex Rbfox/LASR, which is disrupted in the mouse models of Rett syndrome.
Yan Jiang, Xing Fu, Yuhan Zhang, Shen-Fei Wang, Hong Zhu, Wei-Kang Wang, Lin Zhang, Ping Wu, Catherine C. L. Wong, Jinsong Li, Jinbiao Ma, Ji-Song Guan, Ying Huang, Jingyi Hui   +13 more
doaj   +1 more source

Rehabilitation interventions in Rett syndrome: a scoping review

Developmental Medicine & Child Neurology, 2020
To summarize existing interventions and their outcomes in Rett syndrome (RTT) rehabilitation and identify gaps in the literature.
J. Lim, Dayna Greenspoon, Anne W Hunt, L. McAdam   +3 more
semanticscholar   +1 more source

MECP2 Insufficiency Attenuates RUNX2-Dependent Osteoblast Differentiation via miR-126-3p/DKK1-Mediated Canonical Wnt Signaling Inhibition in Rett Syndrome. [PDF]

FASEB J
MECP2 insufficiency leads to upregulation of miR‐126‐3p, which in turn enhances the endogenous Wnt antagonist DKK1. DKK1 inhibits the canonical Wnt signaling pathway, thereby impairing RUNX2‐dependent osteoblast differentiation. ABSTRACT Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by loss‐of‐function mutations in the gene encoding ...
Dong S, Wang L, Kato H, Hirofuji S, Zhou Z, Ito Y, Hirofuji Y, Sato H, Kato TA, Sakai Y, Ohga S, Fukumoto S, Masuda K.   +12 more
europepmc   +2 more sources

Treating Rett syndrome: from mouse models to human therapies

Mammalian Genome, 2019
Rare diseases are very difficult to study mechanistically and to develop therapies for because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome (RTT) is discussed as a prototype for precision medicine, demonstrating how ...
Neeti Vashi, M. Justice
semanticscholar   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Rett Syndrome

Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999), 2003
This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology.
Alan K. Percy, Joanna Dragich, N. Carolyn Schanen   +2 more
openaire   +3 more sources