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1 . Academic Journal
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene
저자
by
Maurizio Miano
;
Nadia Bertola
;
Alice Grossi
;
Gianluca Dell’Orso
;
Stefano Regis
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 4, p 2083 (2024)
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7 . Academic Journal
P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE
저자
by
Maurizio Miano
;
Nadia Bertola
;
Alice Grossi
;
Gianluca Dell’orso
;
Stefano Regis
, et al.
소스
HemaSphere, Vol 7, p e48553f7 (2023)
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7 . Academic Journal
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation
저자
by
Ilaria Persico
;
Giorgia Fontana
;
Michela Faleschini
;
Melania Eva Zanchetta
;
Daniele Ammeti
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia
저자
by
Nadia Bertola
;
Stefano Regis
;
Silvia Bruno
;
Andrea Nicola Mazzarello
;
Martina Serra
, et al.
소스
Antioxidants, Vol 12, Iss 5, p 1100 (2023)
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7 . Academic Journal
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis
저자
by
Maurizio Miano
;
Daniela Guardo
;
Alice Grossi
;
Elena Palmisani
;
Francesca Fioredda
, et al.
소스
Frontiers in Immunology, Vol 13 (2022)
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7 . Academic Journal
Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1
저자
by
Nadia Bertola
;
Silvia Bruno
;
Cristina Capanni
;
Marta Columbaro
;
Andrea Nicola Mazzarello
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 7, p 6557 (2023)
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7 . Academic Journal
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
저자
by
Roberta Bottega
;
Antonio Marzollo
;
Maddalena Marinoni
;
Emmanouil Athanasakis
;
Ilaria Persico
, et al.
소스
Haematologica, Vol 107, Iss 3 (2021)
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7 . Academic Journal
A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A
저자
by
Enrico Cappelli
;
Nadia Bertola
;
Silvia Bruno
;
Paolo Degan
;
Stefano Regis
, et al.
소스
Metabolites, Vol 12, Iss 1, p 6 (2021)
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7 . Academic Journal
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
저자
by
Roberta Bottega
;
Elena Nicchia
;
Enrico Cappelli
;
Silvia Ravera
;
Daniela De Rocco
, et al.
소스
Haematologica, Vol 103, Iss 3 (2018)
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7 . Academic Journal
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology
저자
by
Daniela De Rocco
;
Roberta Bottega
;
Enrico Cappelli
;
Simona Cavani
;
Maria Criscuolo
, et al.
소스
Haematologica, Vol 99, Iss 9 (2014)
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