Pubblicazioni Peer reviewed articles (5) The evolving genetic landscape of congenital disorders of glycosylation Autori: Matthew P. Wilson, Gert Matthijs Pubblicato in: Biochimica et Biophysica Acta (BBA) - General Subjects, Issue 1865/11, 2021, Page(s) 129976, ISSN 0304-4165 Editore: Elsevier BV DOI: 10.1016/j.bbagen.2021.129976 CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Autori: Matthew P Wilson, Zoé Durin, Özlem Unal, Bobby G Ng, Thomas Marrecau, Liesbeth Keldermans, Erika Souche, Daisy Rymen, Mehmet Gündüz, Gülşen Köse, Luisa Sturiale, Domenico Garozzo, Hudson H Freeze, Jaak Jaeken, François Foulquier, Gert Matthijs Pubblicato in: Human Molecular Genetics, 2022, ISSN 0964-6906 Editore: Oxford University Press DOI: 10.1093/hmg/ddac055 SLC37A4‐CDG : Second patient Autori: Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken Pubblicato in: JIMD Reports, 2021, ISSN 2192-8312 Editore: Wiley DOI: 10.1002/jmd2.12195 Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation Autori: Eline Blommaert, Natalia A. Cherepanova, Frederik Staels, Matthew P. Wilson, Reid Gilmore, Rik Schrijvers, Jaak Jaeken, François Foulquier & Gert Matthijs Pubblicato in: Human Genetics, 2022, ISSN 1432-1203 Editore: Springer DOI: 10.1007/s00439-021-02400-1 Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Autori: Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M. White, Sze Chern Lim, Lyndon Gallacher, Heidi Peters, Daisy Rymen, Peter Witt Pubblicato in: The American Journal of Human Genetics, Issue 108/11, 2021, Page(s) 2130-2144, ISSN 0002-9297 Editore: University of Chicago Press DOI: 10.1016/j.ajhg.2021.09.012 È in corso la ricerca di dati su OpenAIRE... Si è verificato un errore durante la ricerca dei dati su OpenAIRE Nessun risultato disponibile
