Free Mg2+ concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by 31P MRS

by Malucelli, Emil, Lodi, Raffaele, Martinuzzi, Andrea, Tonon, Caterina, Barbiroli, Bruno, Iotti, Stefano
Published 2005

Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy

by Rizzo, Giovanni, Tozer, Kevin R., Tonon, Caterina, Manners, David, Testa, Claudia, Malucelli, Emil, Valentino, Maria Lucia, La Morgia, Chiara, Barboni, Piero, Randhawa, Ruvdeep S., Ross-Cisneros, Fred N., Sadun, Alfredo A., Carelli, Valerio, Lodi, Raffaele
Published 2012

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

by La Morgia, Chiara, Caporali, Leonardo, Gandini, Francesca, Olivieri, Anna, Toni, Francesco, Nassetti, Stefania, Brunetto, Daniela, Stipa, Carlotta, Scaduto, Cristina, Parmeggiani, Antonia, Tonon, Caterina, Lodi, Raffaele, Torroni, Antonio, Carelli, Valerio
Published 2014

Accuracy of MR markers for differentiating Progressive Supranuclear Palsy from Parkinson's disease

by Zanigni, Stefano, Calandra-Buonaura, Giovanna, Manners, David Neil, Testa, Claudia, Gibertoni, Dino, Evangelisti, Stefania, Sambati, Luisa, Guarino, Maria, De Massis, Patrizia, Gramegna, Laura Ludovica, Bianchini, Claudio, Rucci, Paola, Cortelli, Pietro, Lodi, Raffaele, Tonon, Caterina
Published 2016

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1

by Zanigni, Stefano, Evangelisti, Stefania, Giannoccaro, Maria Pia, Oppi, Federico, Poda, Roberto, Giorgio, Antonio, Testa, Claudia, Manners, David Neil, Avoni, Patrizia, Gramegna, Laura Ludovica, De Stefano, Nicola, Lodi, Raffaele, Tonon, Caterina, Liguori, Rocco
Published 2016

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

by Caporali, Leonardo, Ghelli, Anna Maria, Iommarini, Luisa, Maresca, Alessandra, Valentino, Maria Lucia, La Morgia, Chiara, Liguori, Rocco, Zanna, Claudia, Barboni, Piero, De Nardo, Vera, Martinuzzi, Andrea, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Calvaruso, Maria Antonietta, Cappelletti, Martina, Porcelli, Anna Maria, Achilli, Alessandro, Pala, Maria, Torroni, Antonio, Carelli, Valerio
Published 2013

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations

by Carelli, Valerio, Musumeci, Olimpia, Caporali, Leonardo, Zanna, Claudia, La Morgia, Chiara, Del Dotto, Valentina, Porcelli, Anna Maria, Rugolo, Michela, Valentino, Maria Lucia, Iommarini, Luisa, Maresca, Alessandra, Barboni, Piero, Carbonelli, Michele, Trombetta, Costantino, Valente, Enza Maria, Patergnani, Simone, Giorgi, Carlotta, Pinton, Paolo, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Avoni, Patrizia, Liguori, Rocco, Baruzzi, Agostino, Toscano, Antonio, Zeviani, Massimo
Published 2015

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

by Pippucci, Tommaso, Maresca, Alessandra, Magini, Pamela, Cenacchi, Giovanna, Donadio, Vincenzo, Palombo, Flavia, Papa, Valentina, Incensi, Alex, Gasparre, Giuseppe, Valentino, Maria Lucia, Preziuso, Carmela, Pisano, Annalinda, Ragno, Michele, Liguori, Rocco, Giordano, Carla, Tonon, Caterina, Lodi, Raffaele, Parmeggiani, Antonia, Carelli, Valerio, Seri, Marco
Published 2015