Search Results - Vittoria Petruzzella

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    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
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    Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction by Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli, Vittoria Petruzzella

    Published 2021
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