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2248505,2146334[uid]

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Year	Number of Results
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3,366 results

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Page 1

Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.

Pepe G, Coco R, Corica D, Di Rosa G, Bossowski F, Skorupska M, Aversa T, Stagi S, Wasniewska M. Pepe G, et al. Genes (Basel). 2024 Feb 24;15(3):287. doi: 10.3390/genes15030287. Genes (Basel). 2024. PMID: 38540345 Free PMC article.

Deficits in olfactory system neurogenesis in neurodevelopmental disorders.

Sweat SC, Cheetham CEJ. Sweat SC, et al. Genesis. 2024 Apr;62(2):e23590. doi: 10.1002/dvg.23590. Genesis. 2024. PMID: 38490949 Review.

De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.

Bui HTP, Huy Do D, Ly HTT, Tran KT, Le HTT, Nguyen KT, Pham LTD, Le HD, Le VS, Mukhopadhyay A, Nguyen LT. Bui HTP, et al. PLoS One. 2024 Mar 7;19(3):e0290936. doi: 10.1371/journal.pone.0290936. eCollection 2024. PLoS One. 2024. PMID: 38451970 Free PMC article.

Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders.

Suter B, Pehlivan D, Ak M, Harris HK, Lyons-Warren AM. Suter B, et al. Autism Res. 2024 Apr;17(4):775-784. doi: 10.1002/aur.3112. Epub 2024 Mar 3. Autism Res. 2024. PMID: 38433353

Variable expression of MECP2, CDKL5, and FMR1 in the human brain: Implications for gene restorative therapies.

Zito A, Lee JT. Zito A, et al. Proc Natl Acad Sci U S A. 2024 Feb 27;121(9):e2312757121. doi: 10.1073/pnas.2312757121. Epub 2024 Feb 22. Proc Natl Acad Sci U S A. 2024. PMID: 38386709

Zebrafish in understanding molecular pathophysiology, disease modeling, and developing effective treatments for Rett syndrome.

Pramanik S, Bala A, Pradhan A. Pramanik S, et al. J Gene Med. 2024 Feb;26(2):e3677. doi: 10.1002/jgm.3677. J Gene Med. 2024. PMID: 38380785 Review.

Rett syndrome in Ireland: a demographic study.

Zade K, Campbell C, Bach S, Fernandes H, Tropea D. Zade K, et al. Orphanet J Rare Dis. 2024 Jan 31;19(1):34. doi: 10.1186/s13023-024-03046-8. Orphanet J Rare Dis. 2024. PMID: 38291497 Free PMC article.

Sleep and the Social Profiles of Individuals With Rett Syndrome.

Zhang X, Smits M, Curfs L, Spruyt K. Zhang X, et al. Pediatr Neurol. 2024 Mar;152:153-161. doi: 10.1016/j.pediatrneurol.2024.01.004. Epub 2024 Jan 8. Pediatr Neurol. 2024. PMID: 38290182 Free article.

RIPK1 activation in Mecp2-deficient microglia promotes inflammation and glutamate release in RTT.

Cao Z, Min X, Xie X, Huang M, Liu Y, Sun W, Xu G, He M, He K, Li Y, Yuan J. Cao Z, et al. Proc Natl Acad Sci U S A. 2024 Feb 6;121(6):e2320383121. doi: 10.1073/pnas.2320383121. Epub 2024 Jan 30. Proc Natl Acad Sci U S A. 2024. PMID: 38289948

The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.

Sadhu C, Lyons C, Oh J, Jagadeeswaran I, Gray SJ, Sinnett SE. Sadhu C, et al. Genes (Basel). 2023 Dec 24;15(1):31. doi: 10.3390/genes15010031. Genes (Basel). 2023. PMID: 38254921 Free PMC article.

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