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Carmela De Fusco
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Journal Articles

Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients

Clinical Trials & Observations
Francesco Pegoraro, Martina Mazzariol, Irene Trambusti, Sameer Bakhshi, Saumyaranjan Mallick, Ira J. Dunkel, Cor van den Bos, Özlem Tezol, Shijun Shan, Suheyla Ocak, Flavio Giordano, Carmela De Fusco, Stefania Gaspari, Anna Maria Buccoliero, Maria Luisa Coniglio, Elisa Buti, Paola Romagnani, Jennifer Picarsic, Jean Donadieu, Eli L. Diamond, Jean-François Emile, Elena Sieni, Julien Haroche, Augusto Vaglio
Journal: Blood
Blood (2023) 142 (13): 1167–1171.
https://doi.org/10.1182/blood.2023020569
Published: 2023
Includes: Supplemental data
Journal Articles

MUNC13–4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis Are Scattered over the Functional Domains of the Protein.

Alessandra Santoro, Sonia Cannella, Giovanna Bossi, Federico Gallo, Antonino Trizzino, Daniela Pende, Francesco Dieli, Giuseppa Bruno, Jane C. Stinchcombe, Caterina Putti, Carmela De Fusco, Cesare Danesino, Lorenzo Moretta, Luigi D. Notarangelo, Gillian Griffiths, Maurizio Aricò
Journal: Blood
Blood (2006) 108 (11): 1249.
https://doi.org/10.1182/blood.V108.11.1249.1249
Published: 2006
Journal Articles

A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin

Clinical Trials & Observations
Christina Trambas, Federico Gallo, Daniela Pende, Stefania Marcenaro, Lorenzo Moretta, Carmela De Fusco, Alessandra Santoro, Luigi Notarangelo, Maurizio Arico, Gillian M. Griffiths
Journal: Blood
Blood (2005) 106 (3): 932–937.
https://doi.org/10.1182/blood-2004-09-3713
Published: 2005