Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Giovanni Duro, Carmela Zizzo, Giuseppe Cammarata, +38

International Journal of Molecular Sciences

Anderson-fabry DiseaseGeneticsGenetic EpidemiologyPathologyMolecular Genetics +20

Heterogeneity within and between primary colorectal carcinomas and matched metastases as revealed by analysis of Ki-ras and p53 mutations

Ida Albanese, Angelo G. Scibetta, Manuela Migliavacca, +6

Biochemical and Biophysical Research Communications

Tumor BiologyMatched MetastasesP53 MutationsTumor HeterogeneityMedicine +9

Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings

Diego Cigna, Claudia D’Anna, Carmela Zizzo, +8

Molecular BioSystems

EngineeringGeneticsImmunologyPathologyFd Specific Biomarkers +22

High Variability of Fabry Disease Manifestations in an Extended Italian Family

Giuseppe Cammarata, Pasquale Fatuzzo, Margherita Stefania Rodolico, +8

BioMed Research International

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

Giulia Accardi, Filippa Bono, Giuseppe Cammarata, +16

Cells

AgingGeneticsImmunologyHuman AgeingPathology +20

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease

Antonino Tuttolomondo, Irene Simonetta, Giovanni Duro, +12

Oncotarget

A pilot study of circulating microRNAs as potential biomarkers of Fabry disease

Giuseppe Cammarata, Simone Scalia, Paolo Colomba, +7

Oncotarget

Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease

Carmela Zizzo, Paolo Colomba, Giuseppe Albeggiani, +6

Clinical Genetics

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

Antonio Pisani, Massimo Imbriaco, Carmela Zizzo, +5

BMC Cardiovascular Disorders

Molecular and clinical studies in five index cases with novel mutations in the GLA gene

Carmela Zizzo, Ines Monte, Antonio Pisani, +9

Gene

Mendelian DisorderGenetic DisorderMedicineGeneticsNovel Mutations +8