S3.1 Are there ERT defined guidelines for Pompe disease?

por Toscano, Antonio, Barca, Emanuele, Musumeci, Olimpia
Publicado 2011

S2.3 Therapeutic approaches in the late onset form of GSD II

por Musumeci, Olimpia, Barca, Emanuele, Toscano, Antonio
Publicado 2011

Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias

por Barca, Emanuele, Emmanuele, Valentina, DiMauro, Salvatore, Toscano, Antonio, Quinzii, Catarina M.
Publicado 2019

Effects of Weed Control Practices on Plant Diversity in a Homogenous Olive-Dominated Landscape (South-East of Italy)

por Terzi, Massimo, Barca, Emanuele, Cazzato, Eugenio, D’Amico, Francesco Saverio, Lasorella, Cesare, Fracchiolla, Mariano
Publicado 2021

Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes

por Joseph, Leroy C., Barca, Emanuele, Subramanyam, Prakash, Komrowski, Michael, Pajvani, Utpal, Colecraft, Henry M., Hirano, Michio, Morrow, John P.
Publicado 2016

Correction: Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes

por Joseph, Leroy C., Barca, Emanuele, Subramanyam, Prakash, Komrowski, Michael, Pajvani, Utpal, Colecraft, Henry M., Hirano, Michio, Morrow, John P.
Publicado 2017

The clinical heterogeneity of coenzyme Q(10) deficiency results from genotypic differences in the Coq9 gene

por Luna-Sánchez, Marta, Díaz-Casado, Elena, Barca, Emanuele, Tejada, Miguel Ángel, Montilla-García, Ángeles, Cobos, Enrique Javier, Escames, Germaine, Acuña-Castroviejo, Dario, Quinzii, Catarina M, López, Luis Carlos
Publicado 2015

Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography

por Siegmund, Stephanie E., Grassucci, Robert, Carter, Stephen D., Barca, Emanuele, Farino, Zachary J., Juanola-Falgarona, Martí, Zhang, Peijun, Tanji, Kurenai, Hirano, Michio, Schon, Eric A., Frank, Joachim, Freyberg, Zachary
Publicado 2018

Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study

por Camerino, Giulia M., Musumeci, Olimpia, Conte, Elena, Musaraj, Kejla, Fonzino, Adriano, Barca, Emanuele, Marino, Marco, Rodolico, Carmelo, Tricarico, Domenico, Camerino, Claudia, Carratù, Maria R., Desaphy, Jean-François, De Luca, Annamaria, Toscano, Antonio, Pierno, Sabata
Publicado 2017

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

por Musumeci, Olimpia, Barca, Emanuele, Lamperti, Costanza, Servidei, Serenella, Comi, Giacomo Pietro, Moggio, Maurizio, Mongini, Tiziana, Siciliano, Gabriele, Filosto, Massimiliano, Pegoraro, Elena, Primiano, Guido, Ronchi, Dario, Vercelli, Liliana, Orsucci, Daniele, Bello, Luca, Zeviani, Massimo, Mancuso, Michelangelo, Toscano, Antonio
Publicado 2019

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

por Ziosi, Marcello, Di Meo, Ivano, Kleiner, Giulio, Gao, Xing‐Huang, Barca, Emanuele, Sanchez‐Quintero, Maria J, Tadesse, Saba, Jiang, Hongfeng, Qiao, Changhong, Rodenburg, Richard J, Scalais, Emmanuel, Schuelke, Markus, Willard, Belinda, Hatzoglou, Maria, Tiranti, Valeria, Quinzii, Catarina M
Publicado 2016

ANO10 mutations cause ataxia and coenzyme Q(10) deficiency

por Balreira, Andrea, Boczonadi, Veronika, Barca, Emanuele, Pyle, Angela, Bansagi, Boglarka, Appleton, Marie, Graham, Claire, Hargreaves, Iain P., Rasic, Vedrana Milic, Lochmüller, Hanns, Griffin, Helen, Taylor, Robert W., Naini, Ali, Chinnery, Patrick F., Hirano, Michio, Quinzii, Catarina M., Horvath, Rita
Publicado 2014

Mitochondrial diseases in North America: An analysis of the NAMDC Registry

por Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio
Publicado 2020

Retrospective natural history of thymidine kinase 2 deficiency

por Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John L P, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Publicado 2018

Public Health Response to a Case of Paralytic Poliomyelitis in an Unvaccinated Person and Detection of Poliovirus in Wastewater — New York, June–August 2022

por Link-Gelles, Ruth, Lutterloh, Emily, Schnabel Ruppert, Patricia, Backenson, P. Bryon, St. George, Kirsten, Rosenberg, Eli S., Anderson, Bridget J., Fuschino, Meghan, Popowich, Michael, Punjabi, Chitra, Souto, Maria, McKay, Kevin, Rulli, Samuel, Insaf, Tabassum, Hill, Dustin, Kumar, Jessica, Gelman, Irina, Jorba, Jaume, Ng, Terry Fei Fan, Gerloff, Nancy, Masters, Nina B., Lopez, Adriana, Dooling, Kathleen, Stokley, Shannon, Kidd, Sarah, Oberste, M. Steven, Routh, Janell, Belgasmi, Hanen, Brister, Barrett, Bullows, James E., Burns, Cara C., Castro, Christina J., Cory, Janine, Dybdahl-Sissoko, Naomi, Emery, Brian D., English, Randall, Frolov, Ann D., Getachew, Halle, Henderson, Elizabeth, Hess, Alexandra, Mason, Karen, Mercante, Jeffrey W., Miles, Stacey Jeffries, Liu, Hongmei, Marine, Rachel L., Momin, Nehalraza, Pang, Hong, Perry, Daniel, Rogers, Shannon L., Short, Brandon, Sun, Hong, Tobolowsky, Farrell, Yee, Eileen, Hughes, Scott, Omoregie, Enoma, Rosen, Jennifer B., Zucker, Jane R., Alazawi, Mohammed, Bauer, Ursula, Godinez, Alex, Hanson, Brianna, Heslin, Eugene, McDonald, James, Mita-Mendoza, Neida K., Meldrum, Megan, Neigel, Dana, Suitor, Robin, Larsen, David A., Egan, Christina, Faraci, Nicola, Feumba, G. Stephanie, Gray, Todd, Lamson, Daryl, Laplante, Jennifer, McDonough, Kathleen, Migliore, Natalie, Moghe, Amruta, Ogbamikael, Simon, Plitnick, Jonathan, Ramani, Rama, Rickerman, Lindsey, Rist, Erik, Schoultz, Lynsey, Shudt, Matthew, Krauchuk, Julie, Medina, Eric, Lawler, Jacqueline, Boss,, Heather, Barca, Emanuele, Ghazali, Danish, Goyal, Tarini, Marinelli, Sean J.P., Roberts, Jackson A., Russo, Grace B., Thakur, Kiran T., Yang, Vivian Q.
Publicado 2022