Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase by Spinazzola, Antonella, Marti, Ramon, Nishino, Ichizo, Andreu, Antonio L., Naini, Ali, Tadesse, Saba, Pela, Ivana, Zammarchi, Enrico, Donati, M. Alice, Oliver, Juan A., Hirano, Michio

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Neuromuscular Disorders in Zebrafish: State of the Art and Future Perspectives by Pappalardo, Andrea, Pitto, Letizia, Fiorillo, Chiara, Alice Donati, M., Bruno, Claudio, Santorelli, Filippo M.

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Early neurodevelopmental characterization in children with cobalamin C/defect by Ricci, Daniela, Martinelli, Diego, Ferrantini, Gloria, Lucibello, Simona, Gambardella, MLuigia, Olivieri, Giorgia, Chieffo, Daniela, Battaglia, Domenica, Diodato, Daria, Iarossi, Giancarlo, Donati, Alice M., Dionisi‐Vici, Carlo, Battini, Roberta, Mercuri, Eugenio M.

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Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy by Nesti, Claudia, Meschini, Maria Chiara, Meunier, Brigitte, Sacchini, Michele, Doccini, Stefano, Romano, Alessandro, Petrillo, Sara, Pezzini, Ilaria, Seddiki, Nadir, Rubegni, Anna, Piemonte, Fiorella, Donati, M Alice, Brasseur, Gael, Santorelli, Filippo M

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Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports by Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.

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Next-generation sequencing approach to hyperCKemia: A 2-year cohort study by Rubegni, Anna, Malandrini, Alessandro, Dosi, Claudia, Astrea, Guja, Baldacci, Jacopo, Battisti, Carla, Bertocci, Giulia, Donati, M Alice, Dotti, M Teresa, Federico, Antonio, Giannini, Fabio, Grosso, Salvatore, Guerrini, Renzo, Lenzi, Sara, Maioli, Maria A, Melani, Federico, Mercuri, Eugenio, Sacchini, Michele, Salvatore, Simona, Siciliano, Gabriele, Tolomeo, Deborah, Tonin, Paola, Volpi, Nila, Santorelli, Filippo M, Cassandrini, Denise

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The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study by Tolomeo, Deborah, Orsucci, Daniele, Nesti, Claudia, Baldacci, Jacopo, Battini, Roberta, Bruno, Claudio, Bruno, Giorgia, Cassandrini, Denise, Doccini, Stefano, Donati, M. Alice, Ferrari, Annarita, Fiori, Simona, Fiorillo, Chiara, Guerrini, Renzo, Mari, Francesco, Montomoli, Martino, Pochiero, Francesca, Procopio, Elena, Ruggiero, Lucia, Sampaolo, Simone, Sicca, Federico, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo M.

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The γγ decay of the Higgs boson in FDR by Donati, Alice M., Pittau, Roberto

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Gauge invariance at work in FDR: H → γγ by Donati, Alice M., Pittau, Roberto

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Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations by Nishino, Ichizo, Spinazzola, Antonella, Papadimitriou, Alexandros, Hammans, Simon, Steiner, Israel, Hahn, Cecil D., Connolly, Anne M., Verloes, Alain, Guimarães, João, Maillard, Ivan, Hamano, Hitoshi, Donati, M. Alice, Semrad, Carol E., Russell, James A., Andreu, Antonio L., Hadjigeorgiou, Giorgos M., Vu, Tuan H., Tadesse, Saba, Nygaard, Torbjoern G., Nonaka, Ikuya, Hirano, Ikuo, Bonilla, Eduardo, Rowland, Lewis P., DiMauro, Salvatore, Hirano, Michio

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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy by Domínguez‐González, Cristina, Madruga‐Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre‐Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín‐Hernández, Elena, Morealejo‐Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, Álvarez del Vayo, Concepcion, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres‐Torronteras, Javier, Jimenez‐Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio

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Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4 by Hildick-Smith, Gordon J., Cooney, Jeffrey D., Garone, Caterina, Kremer, Laura S., Haack, Tobias B., Thon, Jonathan N., Miyata, Non, Lieber, Daniel S., Calvo, Sarah E., Akman, H. Orhan, Yien, Yvette Y., Huston, Nicholas C., Branco, Diana S., Shah, Dhvanit I., Freedman, Matthew L., Koehler, Carla M., Italiano, Joseph E., Merkenschlager, Andreas, Beblo, Skadi, Strom, Tim M., Meitinger, Thomas, Freisinger, Peter, Donati, M. Alice, Prokisch, Holger, Mootha, Vamsi K., DiMauro, Salvatore, Paw, Barry H.

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Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: Identification of novel mutations by Giorgi, Massimo, Morrone, Amelia, Donati, M. Alice, Ciani, Federica, Bardelli, Tiziana, Biasucci, Giacomo, Zammarchi, Enrico

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The sub()YYdecay of the Higgs boson in FDR by Donati, Alice M, Pittau, Roberto

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Gauge invariance at work in FDR: H [arrow right] [gamma][gamma] by Donati, Alice M, Pittau, Roberto

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Gauge invariance at work in FDR: H arrow right gamma gamma by Donati, Alice M, Pittau, Roberto

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Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations by Nishino, Ichizo, Spinazzola, Antonella, Papadimitriou, Alexandros, Hammans, Simon, Steiner, Israel, Hahn, Cecil D., Connolly, Anne M., Verloes, Alain, Guimarães, João, Maillard, Ivan, Hamano, Hitoshi, Donati, M. Alice, Semrad, Carol E., Russell, James A., Andreu, Antonio L., Hadjigeorgiou, Giorgos M., Vu, Tuan H., Tadesse, Saba, Nygaard, Torbjoern G., Nonaka, Ikuya, Hirano, Ikuo, Bonilla, Eduardo, Rowland, Lewis P., DiMauro, Salvatore, Hirano, Michio

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Megaloblastic Anemia and Mitochondriopathy Caused by a Homozygous Mutation in Sideroflexin-4 by Cooney, Jeffrey D., Hildick-Smith, Gordon J., Garone, Caterina, Thon, Jonathan N., Akman, Orhan H., Chen, Caiyong, Shah, Dhvanit I., Branco, Diana Santos, Miyata, Non, Freedman, Matthew L., Calvo, Sarah E., Mootha, Vamsi K., Koehler, Carla M., Italiano, Joseph E., Donati, M. Alice, DiMauro, Salvatore, Paw, Barry H.

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De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack by Romani, Ilaria, PhD, Borsini, Walter, MD, Nencini, Patrizia, MD, Morrone, Amelia, PhD, Ferri, Lorenzo, PhD, Frusconi, Sabrina, BSc, Donadio, Vincenzo Angelo, PhD, Liguori, Rocco, MD, Donati, Maria Alice, MD, Falconi, Serena, BSc, Pracucci, Giovanni, MD, Inzitari, Domenico, MD

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Different neurologic outcomes in two patients with neonatal hyperinsulinemic hypoglycemia by ZAMMARCHI, E, FILIPPI, L, FONDA, C, BENEDETTI, P. A, PISTONE, D, DONATI, M. A

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