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Marco Yamazaki-Nakashimada
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Journal Articles

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG /NEMO mutations

Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J. Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod, Jeremie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya-Vargas, Marco Yamazaki-Nakashimada, Waseem Qasim, Sara Espinosa Padilla, Andrea Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R. Gennery, Mario Abinun, Tayfun Güngör, Beatriz Costa-Carvalho, Antonio Condino-Neto, Paul Veys, Steven M. Holland, Gulbu Uzel, Despina Moshous, Benedicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y. Patel, Anne Puel, Jacinta Bustamante, Erwin W. Gelfand, Jean-Laurent Casanova, Jordan S. Orange, Capucine Picard
Journal: Blood
Blood (2017) 130 (12): 1456–1467.
https://doi.org/10.1182/blood-2017-03-771600
Published: 2017
Includes: Supplemental data
Journal Articles

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Marcela Moncada-Vélez, Rubén Martinez-Barricarte, Dusan Bogunovic, Xiao-Fei Kong, Lizbeth Blancas-Galicia, Cengiz Tirpan, Guzide Aksu, Quentin B. Vincent, Bertrand Boisson, Yuval Itan, Noé Ramírez-Alejo, Satoshi Okada, Alexandra Y. Kreins, Vanessa L. Bryant, Jose Luis Franco, Mélanie Migaud, Sara Espinosa-Padilla, Marco Yamazaki-Nakashimada, Francisco Espinosa-Rosales, Necil Kutukculer, Laurent Abel, Jacinta Bustamante, Guillaume Vogt, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
Journal: Blood
Blood (2013) 122 (14): 2390–2401.
https://doi.org/10.1182/blood-2013-01-480814
Published: 2013
Includes: Supplemental data