Results 121 to 130 of about 18,037 (234)

Communication in girls with Rett Syndrome [PDF]

, 2014
TITLE: Communication in Girls with Rett Syndrome AUTHOR: Zdeňka Sobotová DEPARTMENT: Department of Special Education SUPERVISOR: doc. PaedDr. Jiřina Klenková, Ph.D. ABSTRACT: This thesis investigates the communication in girls with Rett syndrome.
Sobotová, Zdeňka
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Rett syndrome: neurologic and metabolic aspects [PDF]

, 2013
Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was described in 1954 by Andreas Rett, an Australian neuropediatrician.
Hagebeuk, E.E.O., Hagebeuk, Eveline E. O.   +1 more
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Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations

Stem Cell Research
Rett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) lines derived from four Japanese female patients with Rett ...
Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma, Tadashi Shiohama, Yohei Hayashi   +12 more
doaj   +1 more source

Epigenetic and central nervous system function : insights from the study of the rett syndrome mouse model [PDF]

, 2008
Giacometti, Emanuela
core   +1 more source

Rett syndrome – clinical and molecular genetic correlations [PDF]

, 2003
Rett syndrome is an X-linked dominant condition resulting from mutations in the MECP2 gene. Approximately 99.5% of cases are sporadic. Classical Rett syndrome affects girls.
Soler, Doriette, 5th Malta Medical School Conference, Cuschieri, Alfred, Said, Edith   +3 more
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Investigating the sex- and developmental-dependent molecular and gross characterization of the brain of two mouse models of Rett Syndrome [PDF]

Methyl-CpG-binding protein 2 (MeCP2) is a multifunctional protein involved in neurogenesis, synaptogenesis, and activity-dependent gene expression in the brain.
Roberts, Chris-Tiann
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Bruxism in Rett syndrome: A case report [PDF]

, 1999
Rett syndrome is a unique and puzzling disorder noted in females and is possibly caused by fundamental failures in critical brain connectivity during early infancy.
Ergul N., Alpoz A.R.
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Erratum: Rett Syndrome [PDF]

Neuropediatrics, 2018
openaire   +2 more sources

Toward an NGF-based therapy for Rett syndrome. [PDF]

Front Neurosci
Borgonovo G, Tiberi A, Capsoni S, Cattaneo A.   +3 more
europepmc   +1 more source

Mecp2 deficiency induces dysphagia in a preclinical model of Rett syndrome. [PDF]

Proc Natl Acad Sci U S A
Oliveira LM, Aslam MS, Ramirez JM, Huff AD.   +3 more
europepmc   +1 more source