Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease
Moschetti, M.; Venezia, M.; Giacomarra, M.; Marsana, E. M.; Zizzo, C.; Duro, G.; D'Errico, A.; Colomba, P.; Duro, G.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF WOS: NA SJR: NA Best Quartile: NA
Posizione: 5/9

Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease
Anania, M.; Pieruzzi, F.; Giacalone, I.; Trezzi, B.; Marsana, E. M.; Roggero, L.; Francofonte, D.; Stefanoni, M.; Vinci, M.; Zizzo, C.; et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF WOS: NA SJR: NA Best Quartile: NA
Posizione: 10/15

The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study
Giacalone, I.; Ruzzi, L.; Anania, M.; Cuonzo, M.; Marsana, E. M.; Mastrippolito, S.; Francofonte, D.; Bucco, S.; D'Errico, A.; Longo, M. O.; et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF WOS: NA SJR: NA Best Quartile: NA
Posizione: 11/14

Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency
Fiori, L.; Tagi, V. M.; Montanari, C.; Gambino, M.; Carlevatti, V.; Zizzo, C.; D'Auria, E.; Dilillo, D.; Verduci, E.; Zuccotti, G.
MOLECULAR GENETICS AND METABOLISM REPORTS
IF WOS: NA SJR: 0.685 Best Quartile: Q3
Posizione: 6/10

Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients
Duro, G.; Anania, M.; Zizzo, C.; Francofonte, D.; Giacalone, I.; D'Errico, A.; Marsana, E. M.; Colomba, P.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF WOS: NA SJR: 1.273 Best Quartile: Q1
Posizione: 3/8

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
Giacomarra, M.; Colomba, P.; Francofonte, D.; Zora, M.; Caocci, G.; Diomede, D.; Giuffrida, G.; Fiori, L.; Montanari, C.; Sapuppo, A.; et al.
JOURNAL OF CLINICAL MEDICINE
IF WOS: NA SJR: 0.919 Best Quartile: Q1
Posizione: 14/14

Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease
Marano, M.; Zizzo, C.; Malaguti, M. C.; Bacchin, R.; Cavallieri, F.; De Micco, R.; Spagnolo, F.; Bentivoglio, A. R.; Schirinzi, T.; Bovenzi, R.; et al.
PARKINSONISM & RELATED DISORDERS
IF WOS: NA SJR: 1.199 Best Quartile: Q1
Posizione: 2/40

Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study
Moschetti, M; Lo Curto, A; Giacomarra, M; Francofonte, D; Zizzo, C; Messina, E; Duro, G; Colomba, P.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF WOS: NA SJR: 1.273 Best Quartile: Q1
Posizione: 5/8

Diagnosing Fabry nephropathy: the challenge of multiple kidney disease
Esposito, Pasquale; Caputo, Carmela; Repetto, Monica; Somaschini, Alberto; Bellone, Pietro; Colomba, Paolo; Zizzo, Carmela; Parodi, Angelica; Zanetti, Valentina; Canepa, Marco; et al.
BMC NEPHROLOGY
IF WOS: NA SJR: 0.697 Best Quartile: Q2
Posizione: 7/14

Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance
Giuffrida, Gaetano; Markovic, Uros; Condorelli, Annalisa; Duminuco, Andrea; Calafiore, Valeria; Conticello, Concetta; Romano, Alessandra; Grasso, Stephanie; Riccobene, Carla; Tindaro Valentino Ragusa, Marco; et al.
EUROPEAN JOURNAL OF HAEMATOLOGY
IF WOS: NA SJR: 0.944 Best Quartile: Q1
Posizione: 24/25

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion
Marotto, Daniela; Moschetti, Marta; Lo Curto, Alessia; Spezzigu, Anna M.; Giacomarra, Miriam; Marsana, Emanuela M.; Zizzo, Carmela; Duro, Giovanni; Colomba, Paolo
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF WOS: NA SJR: 1.179 Best Quartile: Q1
Posizione: 7/9

Novel Pathogenic Variant of Fabry Disease in a Family with Parapelvic Cysts
Greco, Rosita; Mollica, Francesco; Divilio, Rosalba; Colomba, Paolo; Zizzo, Carmela; Papalia, Teresa
JOURNAL OF BIOMEDICAL RESEARCH & ENVIRONMENTAL SCIENCES
IF WOS: NA SJR: NA Best Quartile: NA
Posizione: 5/6

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case
Zizzo, C; Ruggeri, I; Colomba, P; Argano, C; Francofonte, D; Zora, M; Marsana, Em; Duro, G; Corrao, S
BIOLOGY
IF WOS: NA SJR: 0.779 Best Quartile: Q1
Posizione: 1/9

miR-126-3p and miR-21-5p as Hallmarks of Bio-Positive Ageing; Correlation Analysis and Machine Learning Prediction in Young to Ultra-Centenarian Sicilian Population
Accardi, G; Bono, F; Cammarata, G; Aiello, A; Herrero, Mt; Alessandro, R; Augello, G; Carru, C; Colomba, P; Costa, Ma; et al.
CELLS
IF WOS: NA SJR: 1.537 Best Quartile: Q1
Posizione: 16/19

Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease
Lo Curto, Alessia; Taverna, Simona; Costa, Maria Assunta; Passantino, Rosa; Augello, Giuseppa; Adamo, Giorgia; Aiello, Anna; Colomba, Paolo; Zizzo, Carmela; Zora, Marco; et al.
CELLS
IF WOS: NA SJR: 1.452 Best Quartile: Q1
Posizione: 9/18

Pompe disease: pathogenesis, molecular genetics and diagnosis
Taverna, Simona; Cammarata, Giuseppe; Colomba, Paolo; Sciarrino, Serafina; Zizzo, Carmela; Francofonte, Daniele; Zora, Marco; Scalia, Simone; Brando, Chiara; Lo Curto, Alessia; et al.
AGING
IF WOS: 5.682 SJR: 1.473 Best Quartile: Q1
Posizione: 5/14