Search Results - Luisa Sturiale
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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 by Renate Zeevaert, Francis de Zegher, Luisa Sturiale, Domenico Garozzo, Maria-Helena Smet, Marian Moens, Gert Matthijs, J. Jaeken
Published 2012Artigo -
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Intracellular<i>Shigella</i>remodels its LPS to dampen the innate immune recognition and evade inflammasome activation by Ida Paciello, Alba Silipo, Luigi Lembo Fazio, Laura Curcurù, Anna Brotcke Zumsteg, G. Noël, Valeria Ciancarella, Luisa Sturiale, Antonio Molinaro, Maria Lina Bernardini
Published 2013Artigo -
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MAN1B1 Deficiency: An Unexpected CDG-II by Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa B. Mills, Peter T. Clayton, Carla Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie‐Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloğlu, Jaak Jaeken, François Foulquier, Gert Matthijs
Published 2013Artigo -
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Lipopolysaccharide from Gut‐Associated Lymphoid‐Tissue‐Resident <i>Alcaligenes faecalis</i>: Complete Structure Determination and Chemical Synthesis of Its Lipid A by Atsushi Shimoyama, Flaviana Di Lorenzo, Haruki Yamaura, Keisuke Mizote, Angelo Palmigiano, Molly Dorothy Pither, Immacolata Speciale, Tomoya Uto, Seiji Masui, Luisa Sturiale, Domenico Garozzo, Koji Hosomi, Naoko Shibata, Kazuya Kabayama, Yukari Fujimoto, Alba Silipo, Jun Kunisawa, Hiroshi Kiyono, Antonio Molinaro, Koichi Fukase
Published 2021Artigo -
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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis by Renzo Guerrini, Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly S. McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance H. Rodan, Rima Nabbout, Giulia Barcia, Jill A. Rosenfeld, Carlos A. Bacino, Cyril Mignot, L. Power, Catharine Harris, Dragan Marjanović, Rikke S. Møller, Trine Bjørg Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M. Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio
Published 2022Artigo -
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SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals by Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon G. Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Cathryn M. Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy G. Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler Mark Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, María J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika S. Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Éric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grünewald, Hudson H. Freeze
Published 2019Artigo
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