eLife

Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach

This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

UP Healthcare: Year of major achievements, but challenges remain

The year 2025, which began with the Mahakumbh, was a year of achievements, reforms, and strict discipline for the Uttar ...

Two-day meet of presiding officers in Lucknow on January 20-21

A two-day conference of presiding officers will be held in Uttar Pradesh capital Lucknow on January 20 and 21. The conference will be inaugurated by Chief Minister Yogi Adityanath, while Governor ...
jmg.bmj

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

1 Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia 2 School of Paediatrics and Child Health, University of ...