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P. Colomba · SciRah

Researcher profile · Semantic Scholar

P. Colomba

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P. Colomba — researcher profile on SciRah

h-index: 18
Works: 92
Citations: 985

Most-cited papers

Heterogeneity within and between primary colorectal carcinomas and matched metastases as revealed by analysis of Ki-ras and p53 mutations.
I. Albanese, Angelo G. Scibetta, M. Migliavacca, A. Russo +5 more
2004Biochemical and Biophysical Research Communications - BBRC102 citations
Semantic Scholar
Pompe disease: pathogenesis, molecular genetics and diagnosis
S. Taverna, G. Cammarata, P. Colomba, S. Sciarrino +10 more
2020Aging98 citations Open access
Semantic Scholar
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
G. Duro, C. Zizzo, G. Cammarata, A. Burlina +37 more
2018International Journal of Molecular Sciences90 citations Open access
Semantic Scholar
Nanomaterials: A Review about Halloysite Nanotubes, Properties, and Application in the Biological Field
Giuseppa Biddeci, G. Spinelli, P. Colomba, F. Di Blasi
2022International Journal of Molecular Sciences88 citations Open access
Semantic Scholar
Halloysite Nanotubes and Sepiolite for Health Applications
Giuseppa Biddeci, G. Spinelli, P. Colomba, F. Di Blasi
2023International Journal of Molecular Sciences39 citations Open access
Semantic Scholar
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings.
D. Cigna, C. D'Anna, C. Zizzo, Daniele Francofonte +7 more
2013Molecular Biosystems35 citations
Semantic Scholar
A pilot study of circulating microRNAs as potential biomarkers of Fabry disease
G. Cammarata, Simone Scalia, P. Colomba, C. Zizzo +6 more
2018OncoTarget31 citations Open access
Semantic Scholar
High Variability of Fabry Disease Manifestations in an Extended Italian Family
G. Cammarata, P. Fatuzzo, M. Rodolico, P. Colomba +7 more
2015BioMed Research International31 citations Open access
Semantic Scholar
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease
A. Tuttolomondo, I. Simonetta, G. Duro, R. Pecoraro +11 more
2017OncoTarget30 citations Open access
Semantic Scholar
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
G. Accardi, F. Bono, G. Cammarata, A. Aiello +15 more
2022Cells26 citations Open access
Semantic Scholar
Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study.
A. Pisani, M. Sabbatini, G. Duro, P. Colomba +1 more
2015Nephrology, Dialysis and Transplantation26 citations
Semantic Scholar
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
A. Pisani, M. Imbriaco, C. Zizzo, G. Albeggiani +4 more
2012BMC Cardiovascular Disorders22 citations Open access
Semantic Scholar
Molecular and clinical studies in five index cases with novel mutations in the GLA gene.
C. Zizzo, I. Monte, A. Pisani, P. Fatuzzo +8 more
2016Gene21 citations Open access
Semantic Scholar
Effects of carboxyamidotriazole on in vitro models of imatinib‐resistant chronic myeloid leukemia
R. Alessandro, Simona Fontana, M. Giordano, Chiara Corrado +5 more
2008Journal of Cellular Physiology21 citations
Semantic Scholar
Sex Differences in Anderson–Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women
D. Faro, V. Losi, M. Rodolico, Elvira Mariateresa Torrisi +3 more
2023Genes19 citations Open access
Semantic Scholar
Role of S128R polymorphism of E‐selectin in colon metastasis formation
R. Alessandro, G. Seidita, Anna Maria Flugy, F. Damiani +7 more
2007International Journal of Cancer19 citations Open access
Semantic Scholar
Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients
Giovanni Duro, Monia Anania, C. Zizzo, Daniele Francofonte +4 more
2024International Journal of Molecular Sciences18 citations Open access
Semantic Scholar
Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease
Alessia Lo Curto, S. Taverna, M. A. Costa, R. Passantino +14 more
2021Cells18 citations Open access
Semantic Scholar
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
A. Tuttolomondo, G. Duro, R. Pecoraro, I. Simonetta +8 more
2015Clinical Biochemistry18 citations
Semantic Scholar
De novo mutation in a male patient with Fabry disease: a case report
F. Iemolo, F. Pizzo, G. Albeggiani, C. Zizzo +4 more
2014BMC Research Notes18 citations Open access
Semantic Scholar
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs
R. Alessandro, L. Amico, A. Burlina, C. Zizzo +7 more
2018OncoTarget16 citations Open access
Semantic Scholar
Diagnosing Fabry nephropathy: the challenge of multiple kidney disease
P. Esposito, C. Caputo, Monica Repetto, A. Somaschini +10 more
2023BMC Nephrology14 citations Open access
Semantic Scholar
The Phenotypic Characterization of the Cammalleri Sisters, an Example of Exceptional Longevity
G. Accardi, A. Aiello, Stefano Aprile, R. Caldarella +13 more
2020Rejuvenation Research14 citations
Semantic Scholar
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area
C. Zizzo, A. Testa, P. Colomba, M. Postorino +8 more
2018Kidney & Blood Pressure Research14 citations Open access
Semantic Scholar
Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
G. Duro, M. B. Musumeci, P. Colomba, C. Zizzo +4 more
2014Gene14 citations
Semantic Scholar
Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression
Giuseppa Biddeci, G. Spinelli, P. Colomba, Giovanni Duro +2 more
2025International Journal of Molecular Sciences12 citations Open access
Semantic Scholar
Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease
C. Zizzo, P. Colomba, G. Albeggiani, R. Gallizzi +5 more
2013Clinical Genetics12 citations Open access
Semantic Scholar
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
Miriam Giacomarra, P. Colomba, Daniele Francofonte, M. Zora +10 more
2024Journal of Clinical Medicine11 citations Open access
Semantic Scholar
Effects of Parietaria judaica pollen extract on human microvascular endothelial cells.
S. Taverna, A. Flugy, P. Colomba, M. Barranca +2 more
2008Biochemical and Biophysical Research Communications - BBRC10 citations
Semantic Scholar
Identification of Biomarkers in Cerebrospinal Fluid and Serum of Multiple Sclerosis Patients by Immunoproteomics Approach
P. Colomba, Simona Fontana, G. Salemi, M. Barranca +7 more
2014International Journal of Molecular Sciences9 citations Open access
Semantic Scholar
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
P. Colomba, Antonia Nucera, C. Zizzo, G. Albeggiani +5 more
2012Clinical Biochemistry9 citations
Semantic Scholar
Pt(II) complex @mesoporous silica: preparation, characterization and study of release
P. Colomba, Ç. Demirbağ
20168 citations
Semantic Scholar
Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience
Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo +11 more
2025Renal Failure6 citations Open access
Semantic Scholar
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study
Marta Moschetti, Alessia Lo Curto, Miriam Giacomarra, Daniele Francofonte +4 more
2024International Journal of Molecular Sciences6 citations Open access
Semantic Scholar
Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion
Daniela Marotto, Marta Moschetti, Alessia Lo Curto, A. Spezzigu +5 more
2023International Journal of Molecular Sciences6 citations Open access
Semantic Scholar
Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.
D. Firinu, P. Colomba, P. Manconi, M. P. Barca +5 more
2013Clinical Immunology6 citations
Semantic Scholar
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex
Giuseppa Biddeci, G. Spinelli, P. Colomba, Giovanni Duro +3 more
2025Cells5 citations Open access
Semantic Scholar
Identification of Novel Mutations in Patients Affected by Gaucher Disease
Monia Anania, Miriam Giacomarra, Annalisa D'Errico, Massimo Marano +12 more
2025International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease
Marta Moschetti, Marika Venezia, Miriam Giacomarra, E. Marsana +5 more
2025International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease
Monia Anania, F. Pieruzzi, Irene Giacalone, Barbara Trezzi +11 more
2025International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Cytokine Gene Expression in the Tunica Albuginea of Patients with Peyronie's Disease. Pilot Study with a Control Group
C. Pavone, G. Caruana, D. Abbadessa, G. Scaduto +4 more
2012Urologiâ4 citations Open access
Semantic Scholar
Two distinct amplification events of the c‐myc locus in a colorectal tumour
Mario La Farina, M. Bellavia, M. Tagliavia, V. Eterno +3 more
2008Journal of Cellular Physiology4 citations
Semantic Scholar
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
Irene Giacalone, Luigina Ruzzi, Monia Anania, M. Cuonzo +10 more
2025International Journal of Molecular Sciences3 citations Open access
Semantic Scholar
Prevalence of GLA gene mutations and polymorphisms in patients with multiple sclerosis: A cross-sectional study.
C. Russo, S. Cocozza, E. Riccio, G. Pontillo +15 more
2020Journal of Neurological Sciences3 citations
Semantic Scholar
Misdiagnosis
P. Colomba
20173 citations Open access
Semantic Scholar
New p65 iso5 isoforms as dexamethasone-binding proteins: novel potential therapeutic targets for inflammatory diseases
G. Spinelli, Giuseppa Biddeci, G. Iannolo, P. Colomba +4 more
2026Frontiers in Immunology2 citations
Semantic Scholar
VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies
S. Corrao, Marta Moschetti, S. Scibetta, L. Calvo +5 more
2025International Journal of Molecular Sciences2 citations Open access
Semantic Scholar
Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders
Martina Vinci, C. Zizzo, Marta Moschetti, Miriam Giacomarra +7 more
2025Biomedicines2 citations Open access
Semantic Scholar
Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease.
D. Masarone, G. Duro, S. Dellegrottaglie, P. Colomba +8 more
2017Future Cardiology2 citations Open access
Semantic Scholar
FP907HISTORY OF ANDERSON - FABRY DISEASE
C. Bartolotta, M. Filogamo, P. Colomba, C. Zizzo +6 more
20152 citations
Semantic Scholar

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C. Zizzo×30
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G. Duro×22
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Giovanni Duro×16
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Daniele Francofonte×14
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G. Cammarata×11

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Simone Scalia×7

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Simone Scalia — researcher profile on SciRah

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G. Albeggiani×7

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T. Di Chiara×6

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T. Di Chiara — researcher profile on SciRah

Monia Anania×6

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Monia Anania — researcher profile on SciRah