Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

by Angelica Bianco, Alessio Valletti, Giovanna Longo, Luigi Bisceglia, Julio Montoya, Sonia Emperador, Silvana Guerriero, Vittoria Petruzzella
Published 2018-12-01

Compound Phenotype Due to Recessive Variants in <i>LARP7</i> and <i>OTOG</i> Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

by Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Ester di Muro, Stefano Castellana, Luigi Bisceglia, Tommaso Mazza, Massimo Carella, Marco Castori
Published 2020-03-01

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.

by Ornella Ludovico, Massimo Carella, Luigi Bisceglia, Giorgio Basile, Sandra Mastroianno, Antonio Palena, Salvatore De Cosmo, Massimiliano Copetti, Sabrina Prudente, Vincenzo Trischitta
Published 2015-01-01

Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of...

by Angelica Bianco, Luigi Bisceglia, Maria Fara De Caro, Valeria Galeandro, Patrizia De Bonis, Apollonia Tullo, Stefano Zoccolella, Silvana Guerriero, Vittoria Petruzzella
Published 2018-07-01