Search Results - "Maggio, Pietro Paolo"

Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes by Marziliano, Nicola, Mannarino, Savina, Nespoli, Luisa, Diegoli, Marta, Pasotti, Michele, Malattia, Clara, Grasso, Maurizia, Pilotto, Andrea, Porcu, Emanuele, Raisaro, Arturo, Raineri, Claudia, Dore, Roberto, Maggio, Pietro Paolo, Brega, Agnese, Arbustini, Eloisa

“…Barth syndrome is an X‐linked recessive disorder caused by the tafazzin (TAZ) gene mutations and includes dilated cardiomyopathy (DCM) with left ventricular…”
Get full text

Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region by De Toffol, Simona, Bellone, Emilia, Dulcetti, Francesca, Ruggeri, Anna Maria, Maggio, Pietro Paolo, Pulimeno, Maria Rosaria, Mandich, Paola, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana

“…Charcot Marie Tooth (CMT) syndrome is the most common hereditary peripheral neuropathy, with an incidence of about 1 in 2500. The subtype 1A (CMT1A) is caused…”
Get more information