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Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency 1-gen-2018 Giacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria
Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity 1-gen-2018 Laffranchi, Mattia; Berardelli, Romina; Ronzoni, Riccardo; Lomas, David A.; Fra, Annamaria
Cellular models for the serpinopathies 1-gen-2018 Fra, Annamaria; D’Acunto, Emanuela; Laffranchi, Mattia; Miranda, Elena
Fab fragment of an antibody selective for wild-type alpha-1-antitrypsin 1-gen-2019 Laffranchi, M.; Elliston, E. L. K.; Miranda, E.; Perez, J.; Fra, A.; Lomas, D. A.; Irving, J. A.
Fab fragment of an antibody selective for wild-type alpha-1-antitrypsin in complex with its antigen 1-gen-2019 Laffranchi, M.; Elliston, E. L. K.; Miranda, E.; Perez, J.; Jagger, A. M.; Fra, A.; Lomas, D. A.; Irving, J. A.
Structural characterisation of tissue-derived, disease-associated polymers of alpha-1-antitrypsin using conformation-selective antibodies and single-particle reconstructions from electron microscopy images 1-gen-2019 Elliston, E; Faull, S; Laffranchi, M; Gooptu, B; Jagger, A; Miranda, E; Perez, J; Heyer-Chauhan, N; Lukoyanova, N; Redzej, A; Fra, A; Orlova, E; Lomas, D; Irving, J
Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population 1-gen-2019 Laffranchi, Mattia; Elliston, Emma L. K.; Gangemi, Fabrizio; Berardelli, Romina; Lomas, David A.; Irving, James A.; Fra, Annamaria
Alpha1-antitrypsin deficiency: a twenty-five years' experience. 1-gen-2020 Levi, G.; Corda, L.; Benini, F.; Arici, M.; Rocchetti, C.; Ciarfaglia, M.; Fra, A. M.; Fuoti, M.; Pini, L.; Laffranchi, M.; Orzes, N.; Uccelli, S.; Cettolo, F.; Giordani, J.; Tantucci, C.
Quantification of circulating alpha-1-antitrypsin polymers in dried blood spots 1-gen-2020 Ferrarotti, Ilaria; Ottaviani, Stefania; Laffranchi, Mattia; Barzon, Valentina; Balderacchi, Alice Maria; Levi, Guido; Corsico, Angelo Guido; Corda, Luciano; Benini, Federica; Fra, Anna Maria
Intrahepatic heteropolymerization of M and Z alpha-1-antitrypsin 1-gen-2020 Laffranchi, Mattia; Elliston, Emma Lk; Miranda, Elena; Perez, Juan; Ronzoni, Riccardo; Jagger, Alistair M; Heyer-Chauhan, Nina; Brantly, Mark L; Fra, Annamaria; Lomas, David A; Irving, James A
The molecular species responsible for α1 -antitrypsin deficiency are suppressed by a small molecule chaperone 1-gen-2020 Ronzoni, Riccardo; Heyer-Chauhan, Nina; Fra, Annamaria; Pearce, Andrew C; Rüdiger, Martin; Miranda, Elena; Irving, James A; Lomas, David A
Identification and characterisation of twenty-two novel SERPINA1 pathological mutations 1-gen-2020 Ottaviani, Stefania; Fra, Anna Maria; Balderacchi, Alice Maria; Barzon, Valentina; Carroll, Tomas Patrick; Piloni, Davide; Mariani, Francesca; Mc Elvaney, Noel Gerard; Corsico, Angelo Guido; Ferrarotti, Ilaria
Neuroserpin: structure, function, physiology and pathology 1-gen-2021 D'Acunto, E.; Fra, A.; Visentin, C.; Manno, M.; Ricagno, S.; Galliciotti, G.; Miranda, E.
The importance of N186 in the alpha-1-antitrypsin shutter region is revealed by the novel bologna deficiency variant 1-gen-2021 Ronzoni, R.; Ferrarotti, I.; D'Acunto, E.; Balderacchi, A. M.; Ottaviani, S.; Lomas, D. A.; Irving, J. A.; Miranda, E.; Fra, A.
Functional characterization of amino acid variants of the reactive-center-loop of alpha-1-antitrypsin 1-gen-2022 BEN KHLIFA, Emna; Bignotti, Mattia; Bartoli, Giulia; Denardo, Andrea; Fra, Annamaria
Molecular characterization of new variants associated with alpha-1-antitrypsin deficiency (AATD) 1-gen-2022 Bartoli, Giulia; Ottaviani, S.; Balderacchi, A. M.; Ferrarotti, I.; Fra, A.
Clinical and molecular characterisation of new variants associated to alpha-1-antitrypsin deficiency 1-gen-2022 Balderacchi, Am; Bartoli, G; Ottaviani, S; Barzon, V; Corino, A; Carrol, Tp; Piloni, D; Mcelvaney, Ng; Corsico, Ag; Fra, A; Ferrarotti, I; Barzon, V
Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency 1-gen-2023 Ottaviani, S.; Bartoli, G.; Carroll, T. P.; Gangemi, F.; Balderacchi, A. M.; Barzon, V.; Corino, A.; Piloni, D.; Mcelvaney, N. G.; Corsico, A. G.; Irving, J. A.; Fra, A.; Ferrarotti, I.
Human iPSC-Derived 3D Hepatic Organoids in a Miniaturized Dynamic Culture System 1-gen-2023 Calamaio, S.; Serzanti, M.; Boniotti, J.; Fra, A.; Garrafa, E.; Cominelli, M.; Verardi, R.; Poliani, P. L.; Dotti, S.; Villa, R.; Mazzoleni, G.; Dell'Era, P.; Steimberg, N.
Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes 1-gen-2024 Balderacchi, Alice M.; Bignotti, Mattia; Ottaviani, Stefania; Denardo, Andrea; Barzon, Valentina; Ben Khlifa, Emna; Vailati, Guido; Piloni, Davide; Benini, Federica; Corda, Luciano; Corsico, Angelo G.; Ferrarotti, Ilaria; Fra, Annamaria
Mostrati risultati da 41 a 60 di 62
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