Results 151 to 160 of about 18,037 (234)

Clinical experience using trofinetide in Rett syndrome and related MECP2 diagnosis at the children's hospital of Philadelphia post approval. [PDF]

Front Neurol
Prange EO, Fleysh D, Reddy K, Dubbs H, Marsh ED.   +4 more
europepmc   +1 more source

Development and Validation of the Korean Version of the Rett Syndrome Behavioral Questionnaire. [PDF]

Children (Basel)
Yi YG, Yang S, Kim GH, Han Y, Jang DH.
europepmc   +1 more source

Single-nucleus profiling reveals a core disease signature and cell type-specific vulnerabilities in early Rett syndrome. [PDF]

Sci Adv
Li Y, Anderson AG, Qi G, Wu SR, Revelli JP, Chen H, Liu Z, Zoghbi HY.   +7 more
europepmc   +1 more source

MeCP2 NID interaction with RNA: implications for Rett syndrome-relevant protein regulation. [PDF]

Hum Mol Genet
Good KV, Strickfaden H, Muhammad T, Vincent JB, Hendzel M, Nelson CJ, Ausió J.   +6 more
europepmc   +1 more source

Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1. [PDF]

Stem Cell Reports
Morales A, Korsakova E, Mansooralavi N, Ravikumar A, Rivas G, Soliman P, Rodriguez L, Galvan C, McDaniel T, Lund A, Cooper B, Bhaduri A, Lowry WE.   +12 more
europepmc   +2 more sources

Anticodon-engineered tRNAs restore full-length MeCP2 expression and function in Rett syndrome nonsense mutations. [PDF]

Front Neurol
Fara E, Pezzini S, Arpaia G, Frasca A, Porter JJ, Lueck JD, Landsberger N.   +6 more
europepmc   +1 more source

Modulating alternative splicing of <i>MECP2</i> is a potential therapeutic strategy for Rett syndrome. [PDF]

Sci Transl Med
Tirumala HP, Wang L, Li Y, Bajikar SS, Anderson AG, Wang W, Trostle AJ, Zahabiyon M, Bajic A, Kim JJ, Chen H, Liu Z, Zoghbi HY.   +12 more
europepmc   +1 more source

Multi-omics characterization of developing forebrain organoids unravels the dynamic molecular events of Rett syndrome pathogenesis. [PDF]

J Neurodev Disord
Koetsier J, Bahram Sangani N, Gomes AR, Diogo MM, Fernandes TG, Bouwman FG, Mariman ECM, Ghazvini M, Schurgers LJ, Gribnau J, Curfs LMG, Reutelingsperger CP, Eijssen LMT.   +12 more
europepmc   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome. [PDF]

Ann Clin Transl Neurol
Simon AJ, Picard N, d'Andrea V, Chang E, Leffler J, Centofante E, Taylor M, Bardi F, Cavicchiolo F, Hensch TK, Panzeri S, Chen C, Fagiolini M.   +12 more
europepmc   +1 more source

Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome. [PDF]

BMC Med Educ
Kocyigit S, Akgun-Dogan O, Hatırnaz Ng O, Alanay Y, Guven F.   +4 more
europepmc   +1 more source