Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Julie Muskett"'
Autor:
null Talah T. Wafa, null Rabia Faridi, null Kelly A. King, null Christopher Zalewski, null Rizwan Yousaf, null Julie M. Schultz, null Robert J. Morell, null Julie Muskett, null Amy Turriff, null Ekaterini Tsilo, null Andrew J. Griffith, null Thomas B. Friedman, null Wadih M. Zein, null Carmen C. Brewer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb52dc342c55a5746316b4f9e78c0940
https://doi.org/10.1111/cge.13868/v3/response1
https://doi.org/10.1111/cge.13868/v3/response1
Publikováno v:
Molecular Genetics and Metabolism. 132:S91-S92
Autor:
Amelia Diplock, Wendy E. Smith, John E. Niederhuber, Jia Zhao, Thierry Vilboux, John F. Deeken, Natalie Hauser, Megan S. Kane, Darius Ebrahimi-Fakhari, Julie Muskett, Siddharth Srivastava
Publikováno v:
Neuropediatrics. 50(4)
Congenital disorders of autophagy are multisystem disorders with significant neurological involvement. Ectopic p-granules protein 5 (EPG5)-associated Vici syndrome is a prototypical congenital disorder of autophagy and presents with the cardinal feat