Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Thomas Joudinaud"'
Autor:
Clémence Disdier, Amélie Soyer, Léa Broca-Brisson, Sébastien Goutal, Anne-Cécile Guyot, Nora Ziani, Louise Breuil, Alexandra Winkeler, Gaëlle Hugon, Thomas Joudinaud, Henri Bénech, Jean Armengaud, Matthew R. Skelton, Rania Harati, Rifat A. Hamoudi, Nicolas Tournier, Aloïse Mabondzo
Publikováno v:
Neurobiology of Disease, Vol 202, Iss , Pp 106720- (2024)
Creatine transporter deficiency (CTD) is an inborn error of creatine (Cr) metabolism in which Cr is not properly distributed to the brain due to a mutation in the Cr transporter (CrT) SLC6A8 gene. CTD is associated with developmental delays and with
Externí odkaz:
https://doaj.org/article/bde823f812f9471790485c819bd60d17
Autor:
Aloïse Mabondzo, Rania Harati, Léa Broca-Brisson, Anne-Cécile Guyot, Narciso Costa, Francesco Cacciante, Elena Putignano, Laura Baroncelli, Matthew R. Skelton, Cathy Saab, Emmanuelle Martini, Henri Benech, Thomas Joudinaud, Jean-Charles Gaillard, Jean Armengaud, Rifat Hamoudi
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Creatine transporter deficiency (CTD), a leading cause of intellectual disability is a result of the mutation in the gene encoding the creatine transporter SLC6A8, which prevents creatine uptake into the brain, causing mental retardation, expressive
Externí odkaz:
https://doaj.org/article/0bb10f0055e5490bb1303111e63f33c4
Autor:
Aloïse Mabondzo, Rania Harati, Léa Broca-Brisson, Anne-Cécile Guyot, Narciso Costa, Francesco Cacciante, Elena Putignano, Laura Baroncelli, Matthew R Skelton, Cathy Saab, Emmanuelle Martini, Henri Benech, Thomas Joudinaud, Jean-Charles Gaillard, Jean Armengaud, Rifat A. Hamoudi
Creatine transporter deficiency prevents creatine uptake into the brain, leading to mental retardation. To better understand the pathophysiology, this study focuses on the identification of biomarkers related to cognitive improvement in a Slc6a8 knoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43a63dca6b66122fa4139e1ad3f34015
https://doi.org/10.1101/2022.11.03.514982
https://doi.org/10.1101/2022.11.03.514982
Publikováno v:
Annales de cardiologie et d'angeiologie. 57(1)
Hypertrophic cardiomyopathy is an inherited disease characterized by a left ventricular hypertrophy, a diastolic dysfunction and rhythm troubles with risk of sudden death. There was an evolution in the surgical strategy to treat the patients who pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9c53b1c047fe1f7ef804091721bed2b4
https://pubmed.ncbi.nlm.nih.gov/18054343
https://pubmed.ncbi.nlm.nih.gov/18054343