Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Yazar: Leoni, Valerio, Strittmatter, Laura, Zorzi, Giovanna, Zibordi, Federica, Dusi, Sabrina, Garavaglia, Barbara, Venco, Paola, Caccia, Claudio, Souza, Amanda L, Deik, Amy, Clish, Clary B, Rimoldi, Marco, Ciusani, Emilio, Bertini, Enrico, Nardocci, Nardo, Mootha, Vamsi K, Tiranti, Valeria
Baskı/Yayın Bilgisi 2011

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

Yazar: Carecchio, Miryam, Mencacci, Niccolò E., Iodice, Alessandro, Pons, Roser, Panteghini, Celeste, Zorzi, Giovanna, Zibordi, Federica, Bonakis, Anastasios, Dinopoulos, Argyris, Jankovic, Joseph, Stefanis, Leonidas, Bhatia, Kailash P., Monti, Valentina, R'Bibo, Lea, Veneziano, Liana, Garavaglia, Barbara, Fusco, Carlo, Wood, Nicholas, Stamelou, Maria, Nardocci, Nardo
Yayımlandı Parkinsonism Relat Disord (2017)

Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy

Yazar: Pareyson, Davide, Pantaleoni, Chiara, Eleopra, Roberto, De Filippis, Giuseppe, Moroni, Isabella, Freri, Elena, Zibordi, Federica, Bulgheroni, Sara, Pagliano, Emanuela, Sarti, Daniela, Silvani, Antonio, Grazzi, Licia, Tiraboschi, Pietro, Didato, Giuseppe, Anghileri, Elena, Bersano, Anna, Valentini, Laura, Piacentini, Sylvie, Muscio, Cristina, Leonardi, Matilde, Mariotti, Caterina, Eoli, Marica, Nuzzo, Sara, Tagliavini, Fabrizio, Confalonieri, Paolo, De Giorgi, Francesca
Yayımlandı Neurol Sci (2021)

Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells

Yazar: Tinelli, Francesca, Nava, Sara, Arioli, Francesco, Bedini, Gloria, Scelzo, Emma, Lisini, Daniela, Faragò, Giuseppe, Gioppo, Andrea, Ciceri, Elisa F., Acerbi, Francesco, Ferroli, Paolo, Vetrano, Ignazio G., Esposito, Silvia, Saletti, Veronica, Pantaleoni, Chiara, Zibordi, Federica, Nardocci, Nardo, Zedde, Maria Luisa, Pezzini, Alessandro, Di Lazzaro, Vincenzo, Capone, Fioravante, Dell’Acqua, Maria Luisa, Vajkoczy, Peter, Tournier-Lasserve, Elisabeth, Parati, Eugenio A., Bersano, Anna, Gatti, Laura
Yayımlandı Int J Mol Sci (2020)

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Yazar: Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria
Yayımlandı Hum Genet (2014)

Effectiveness and safety of Triac in children and adults with MCT8 deficiency: an international, multicentre, single group, open-label, phase 2 trial

Yazar: Groeneweg, Stefan, Peeters, Robin P., Moran, Carla, Stoupa, Athanasia, Auriol, Françoise, Tonduti, Davide, Dica, Alice, Paone, Laura, Rozenkova, Klara, Malikova, Jana, van der Walt, Adri, de Coo, Irenaeus F.M., McGowan, Anne, Lyons, Greta, Aarsen, Femke K., Barca, Diana, van Beynum, Ingrid. M., van der Knoop, Marieke M., Jansen, Jurgen, Manshande, Martien, Lunsing, Roelineke J., Nowak, Stan, den Uil, Corstiaan A., Carola Zillikens, M., Visser, Frank E., Vrijmoeth, Paul, de Wit, Marie Claire Y., Wolf, Nicole I., Zandstra, Angelique, Ambegaonkar, Gautam, Singh, Yogen, de Rijke, Yolanda B., Medici, Marco, Bertini, Enrico S., Depoorter, Sylvia, Lebl, Jan, Cappa, Marco, De Meirleir, Linda, Krude, Heiko, Craiu, Dana, Zibordi, Federica, Petit, Isabelle Oliver, Polak, Michel, Chatterjee, Krishna, Visser, Theo J., Edward Visser, W.
Yayımlandı Lancet Diabetes Endocrinol (2019)

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Yazar: Groeneweg, Stefan, van Geest, Ferdy S, Abaci, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautem, Armour, Christine, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castaglioni, Claudia, Castellotti, Barbara, Chatterjee, Krishna, de Coo, Irenaeus FM, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein HG, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Lorea, Cláudia Fernandes, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Koolen, David, Konrad, Daniel, Krude, Heiko, Lawson–Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, Lourenço, Charles Marques, McGowan, Anne, Mericq, Veronica, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, de Oliveira Poswar, Fabiano, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba Seven, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou AM, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward
Yayımlandı Lancet Diabetes Endocrinol (2020)