Novel <i>NDUFA12</i> variants are associated with isolated complex I defect and variable clinical manifestation
Alessandra Torraco(Bambino Gesù Children's Hospital), Daria Diodato(Bambino Gesù Children's Hospital), Zahra Assouline(Hôpital Necker-Enfants Malades), Giorgia Olivieri(Bambino Gesù Children's Hospital), Agnès Rötig(Université Paris Cité), Alessia Nasca(Fondazione IRCCS Istituto Neurologico Carlo Besta), Michela Di Nottia(Bambino Gesù Children's Hospital), Rosalba Carrozzo(Bambino Gesù Children's Hospital), Federica Invernizzi(Istituti di Ricovero e Cura a Carattere Scientifico), Daniela Longo(Bambino Gesù Children's Hospital), Eleonora Lamantea(Istituti di Ricovero e Cura a Carattere Scientifico), Holger Prokisch(Helmholtz Zentrum München), Enrico Bertini(Bambino Gesù Children's Hospital), Teresa Rizza(Azienda Unita' Sanitaria Locale Di Modena), Daniele Ghezzi(University of Milan), Daniela Verrigni(Bambino Gesù Children's Hospital), Henry Houlden(Queen Mary University of London), Reza Maroofian(University College London), Diego Martinelli(Bambino Gesù Children's Hospital), Alessandra Pennisi(Délégation Paris 5), Carlo Dionisi‐Vici(Bambino Gesù Children's Hospital), Maha S. Zaki(National Water Research Center)
Cited by 22
Related Papers
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
|Nature Genetics|2006|673