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Preliminary investigation of the effects of a prelinguistic AAC intervention on social gaze behaviors from school-age children with multiple disabilities.
Holyfield C. Holyfield C. Augment Altern Commun. 2019 Dec;35(4):285-298. doi: 10.1080/07434618.2019.1704866. Epub 2019 Dec 28. Augment Altern Commun. 2019. PMID: 31884826
The current preliminary study used a single-subject ABB'B" design nested within a multiple baseline across participants design with randomization to evaluate a multi-phase intervention aimed at increasing social gaze behaviors. ...
The current preliminary study used a single-subject ABB'B" design nested within a multiple baseline across participants design with rando
SA4503, A Potent Sigma-1 Receptor Ligand, Ameliorates Synaptic Abnormalities and Cognitive Dysfunction in a Mouse Model of ATR-X Syndrome.
Yamaguchi K, Shioda N, Yabuki Y, Zhang C, Han F, Fukunaga K. Yamaguchi K, et al. Int J Mol Sci. 2018 Sep 18;19(9):2811. doi: 10.3390/ijms19092811. Int J Mol Sci. 2018. PMID: 30231518 Free PMC article.
alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX. An ATR-X model mouse lacking Atrx exon 2 displays phenotypes that resemble symptoms in the human intellectual disability: cognitive defects and abnormal dendri …
alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX. An ATR-X model mous …
Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome.
Shioda N, Yabuki Y, Yamaguchi K, Onozato M, Li Y, Kurosawa K, Tanabe H, Okamoto N, Era T, Sugiyama H, Wada T, Fukunaga K. Shioda N, et al. Nat Med. 2018 Jun;24(6):802-813. doi: 10.1038/s41591-018-0018-6. Epub 2018 May 21. Nat Med. 2018. PMID: 29785027 Free article.
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX, which encodes a chromatin-remodeling protein. ...Our findings suggest a potential therapeutic strategy to target G-quadruplexes and decrease cognitive impairme …
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX, which encodes a chr …
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
De La Fuente R, Baumann C, Viveiros MM. De La Fuente R, et al. Reproduction. 2011 Aug;142(2):221-34. doi: 10.1530/REP-10-0380. Epub 2011 Jun 8. Reproduction. 2011. PMID: 21653732 Free PMC article. Review.
Patients with ATRX syndrome may exhibit skewed X chromosome inactivation (XCI) patterns, and ATRX-deficient mice exhibit abnormal imprinted XCI in the trophoblast cell line. Non-random or skewed XCI can potentially affect both the onset and severity of X-linked disease. .. …
Patients with ATRX syndrome may exhibit skewed X chromosome inactivation (XCI) patterns, and ATRX-deficient mice exhibit abnormal imprinted …