未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients 单一大规模线粒体缺失综合征：儿科患者的神经影像表型及纵向进展 Alves, CAPF; Rossi-Espagnet, MC; Perez, F; Manteghinejad, A; Peterson, JT; Ganetzky, R; Napolitano, A; Grassi, F; George-Sankoh, I; Yildiz, H; Muraresku, C; Falk, MJ; Martinelli, D; Longo, D; Vanderver, A; Gandolfo, C; Saneto, RP; Goldstein, A; Vossough, A 分享 收藏
分享 收藏
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Baric, Ivo; Ramadza, Danijela Petkovic; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, Rene; Servidei, Serenella; Bris, Celine; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cecile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina 分享 收藏
分享 收藏
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry 分享 收藏
分享 收藏
分享 收藏
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability TRAPPC9-CDG: 一种具有畸形特征和智力障碍的新型先天性糖基化疾病 Radenkovic, Silvia; Martinelli, Diego; Zhang, Yuebo; Preston, Graeme J.; Maiorana, Arianna; Terracciano, Alessandra; Dentici, Maria Lisa; Pisaneschi, Elisa; Novelli, Antonio; Ranatunga, Wasantha; Ligezka, Anna N.; Ghesquiere, Bart; Deyle, David R.; Kozicz, Tamas; Pinto e Vairo, Filippo; Witters, Peter; Morava, Eva 分享 收藏
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes 人类COQ4缺乏症: 描述临床，代谢和神经影像学表型 Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix 分享 收藏
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases Ardissone, Anna; Bruno, Claudio; Diodato, Daria; Donati, Alice; Ghezzi, Daniele; Lamantea, Eleonora; Lamperti, Costanza; Mancuso, Michelangelo; Martinelli, Diego; Primiano, Guido; Procopio, Elena; Rubegni, Anna; Santorelli, Filippo; Schiaffino, Maria Cristina; Servidei, Serenella; Tubili, Flavia; Bertini, Enrico; Moroni, Isabella 分享 收藏
In-depth phenotyping of movement disorders in WARS2 encephalopathy Galosi, Serena; Danti, Federica Rachele; Nardecchia, Francesca; Gigliotti, Federica; Alfonsi, Chiara; Martinelli, Diego; Zorzi, Giovanna; Cazorla, Angeles Garcia; Nardocci, Nardo; Leuzzi, Vincenzo; Ghezzi, Daniele 分享 收藏
分享 收藏
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient Olivieri, Giorgia; Martinelli, Diego; Longo, Daniela; Grimaldi, Chiara; Liccardo, Daniela; Di Meo, Ivano; Pietrobattista, Andrea; Sidorina, Anna; Semeraro, Michela; Dionisi-Vici, Carlo 分享 收藏
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases Ticci, Chiara; Orsucci, Daniele; Ardissone, Anna; Bello, Luca; Bertini, Enrico; Bonato, Irene; Bruno, Claudio; Carelli, Valerio; Diodato, Daria; Doccini, Stefano; Donati, Maria Alice; Dosi, Claudia; Filosto, Massimiliano; Fiorillo, Chiara; La Morgia, Chiara; Lamperti, Costanza; Marchet, Silvia; Martinelli, Diego; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana Enrica; Montano, Vincenzo; Moroni, Isabella; Musumeci, Olimpia; Pancheri, Elia; Pegoraro, Elena; Primiano, Guido; Procopio, Elena; Rubegni, Anna; Scalise, Roberta; Sciacco, Monica; Servidei, Serenella; Siciliano, Gabriele; Simoncini, Costanza; Tolomeo, Deborah; Tonin, Paola; Toscano, Antonio; Tubili, Flavia; Mancuso, Michelangelo; Battini, Roberta; Santorelli, Filippo Maria 分享 收藏
分享 收藏
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation 新的NDUFA12变异与孤立的复杂I缺陷和可变的临床表现有关 Torraco, Alessandra; Nasca, Alessia; Verrigni, Daniela; Pennisi, Alessandra; Zaki, Maha S.; Olivieri, Giorgia; Assouline, Zahra; Martinelli, Diego; Maroofian, Reza; Rizza, Teresa; Di Nottia, Michela; Invernizzi, Federica; Lamantea, Eleonora; Longo, Daniela; Houlden, Henry; Prokisch, Holger; Rotig, Agnes; Dionisi-Vici, Carlo; Bertini, Enrico; Ghezzi, Daniele; Carrozzo, Rosalba; Diodato, Daria 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
未登录.png){kind=icon}