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Fabio Acquaviva
Fabio Acquaviva
MD, PhD. UOS Genetica Medica. Pediatria delle Malattie Croniche e Multifattoriali. AORN Santobono
Email verificata su santobonopausilipon.it
Titolo
Citata da
Citata da
Anno
PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia
D Marmolino, M Manto, F Acquaviva, P Vergara, A Ravella, A Monticelli, ...
Plos one 5 (4), e10025, 2010
1542010
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, ...
Journal of medical genetics 45 (12), 808-812, 2008
1392008
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia
G Coppola, D Marmolino, D Lu, Q Wang, M Cnop, M Rai, F Acquaviva, ...
Human molecular genetics 18 (13), 2452-2461, 2009
1352009
PGE2 inhibits apoptosis in human adenocarcinoma Caco-2 cell line through Ras-PI3K association and cAMP-dependent kinase A activation
V Leone, A di Palma, P Ricchi, F Acquaviva, M Giannouli, AM Di Prisco, ...
American Journal of Physiology-Gastrointestinal and Liver Physiology 293 (4…, 2007
1182007
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2
F Acquaviva, I De Biase, L Nezi, G Ruggiero, F Tatangelo, C Pisano, ...
Journal of cell science 118 (17), 3917-3924, 2005
752005
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression
F Acquaviva, I Castaldo, A Filla, M Giacchetti, D Marmolino, A Monticelli, ...
The Cerebellum 7, 360-365, 2008
692008
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses.
S Paolacci, V Precone, F Acquaviva, P Chiurazzi, E Fulcheri, M Pinelli, ...
European Review for Medical & Pharmacological Sciences 23 (13), 2019
682019
PPAR-γ agonist azelaoyl PAF increases frataxin protein and mRNA expression. New implications for the friedreich’s ataxia therapy
D Marmolino, F Acquaviva, M Pinelli, A Monticelli, I Castaldo, A Filla, ...
The Cerebellum 8, 98-103, 2009
642009
RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
M Falco, S Amabile, F Acquaviva
The application of clinical genetics, 85-94, 2017
602017
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit
F Sacc, R Piro, G De Michele, F Acquaviva, A Antenora, G Carlomagno, ...
Movement Disorders 26 (4), 739-742, 2011
532011
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)
M Pinelli, F Acquaviva, F Barbetti, E Caredda, S Cocozza, M Delvecchio, ...
PLoS One 8 (11), e79933, 2013
482013
Friedreich’s Ataxia: From the (GAA) n Repeat Mediated Silencing to New Promising Molecules for Therapy
D Marmolino, F Acquaviva
The Cerebellum 8, 245-259, 2009
472009
β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus
M Pinelli, M Giacchetti, F Acquaviva, S Cocozza, G Donnarumma, ...
BMC medical genetics 7, 1-9, 2006
422006
SNORD116 deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly
P Fontana, M Grasso, F Acquaviva, E Gennaro, ML Galli, M Falco, ...
Clinical genetics 92 (4), 440-443, 2017
362017
Say‐barber‐Biesecker‐young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
F Lonardo, MS Lonardo, F Acquaviva, M Della Monica, F Scarano, ...
Clinical genetics 95 (2), 253-261, 2019
272019
First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation
F Acquaviva, ME Sana, M Della Monica, M Pinelli, D Postorivo, P Fontana, ...
American Journal of Medical Genetics Part A 173 (1), 231-238, 2017
202017
Mucopolysaccharidosis type II in a female patient with a reciprocal X; 9 translocation and skewed X chromosome inactivation
F Lonardo, P Di Natale, S Lualdi, F Acquaviva, C Cuoco, F Scarano, ...
American Journal of Medical Genetics Part A 164 (10), 2627-2632, 2014
202014
Fibrodysplasia ossificans progressiva: a challenging diagnosis
D De Brasi, F Orlando, V Gaeta, M De Liso, F Acquaviva, L Martemucci, ...
Genes 12 (8), 1187, 2021
152021
Aspirin reduces the outcome of anticancer therapy in Meth A–bearing mice through activation of AKT-glycogen synthase kinase signaling
A di Palma, G Matarese, V Leone, T Di Matola, F Acquaviva, ...
Molecular cancer therapeutics 5 (5), 1318-1324, 2006
142006
Small 4p16. 3 deletions: three additional patients and review of the literature
L Bernardini, FC Radio, F Acquaviva, C Gorgone, D Postorivo, B Torres, ...
American Journal of Medical Genetics Part A 176 (11), 2501-2508, 2018
102018
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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