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http://dx.doi.org/10.1152/ajprenal.00535.2020 | DOI Listing |
Int J Mol Sci
October 2024
Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Epilepsia Open
December 2024
University of São Paulo Medical School - Clinic Hospital (HCFMUSP), São Paulo, Brazil.
Objectives: This study aims to determine the current state of CDD diagnosis and epilepsy treatment in an upper-middle-income country.
Methods: Forty-seven families of the Brazilian CDD Association were invited to participate in an online survey to gather information about the diagnosis and treatment of epilepsy.
Results: Forty-three families (91.
Front Med (Lausanne)
July 2024
Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.
Rett syndrome (RTT) and Rett-like syndromes [i.e., CDKL5 deficiency disorder (CDD) and FOXG1-syndrome] represent rare yet profoundly impactful neurodevelopmental disorders (NDDs).
View Article and Find Full Text PDFPLoS One
December 2022
Division of Cell Biology and Imaging, Department of Radiology, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
Chlamydomonas reinhardtii is an important model organism for the study of many cellular processes, and protein tagging is an increasingly indispensable tool for these studies. To circumvent the disadvantages of conventional approaches in creating a tagged cell line, which involve transforming either a wild-type or null-mutant cell line with an exogenous DNA construct that inserts randomly into the genome, we developed a strategy to tag the endogenous gene in situ. The strategy utilizes TIM, a CRISPR/Cas9-based method for targeted insertional mutagenesis in C.
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