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Results: 1-5 |
Results: 5
Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu
Authors: Valente, Lucia Tiranti, Valeria Marsano, René Massimiliano Malfatti, Edoardo Fernandez-Vizarra, Erika Donnini, Claudia Mereghetti, Paolo De Gioia, Luca Burlina, Alberto Castellan, Claudio Comi, Giacomo P. Savasta, Salvatore Ferrero, Iliana Zeviani, Massimo
Citation: Valente, Lucia et al., Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu, American journal of human genetics , 80(1), 2007, pp. 44-58
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).
Authors: Zeviani, Massimo Amati, Patrizia Bresolin, Nereo Antozzi, Carlo Piccolo, Giovanni Toscano, Antonio DiDonato, Stefano
Citation: Zeviani, Massimo et al., Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF)., American journal of human genetics , 48-I(2), 1991, pp. 203-211
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein
Authors: Tiranti, Valeria D'Adamo, Pio Briem, Egill Ferrari, Gianfrancesco Mineri, Rossana Lamantea, Eleonora Mandel, Hanna Balestri, Paolo Garcia-Silva, Maria-Teresa Vollmer, Brigitte Rinaldo, Piero Hahn, Si Houn Leonard, James Rahman, Shamima Dionisi-Vici, Carlo Garavaglia, Barbara Gasparini, Paolo Zeviani, Massimo
Citation: Tiranti, Valeria et al., Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein, American journal of human genetics , 74(2), 2004, pp. 239-252
Stuttering is a speech disorder long recognized to have a genetic component. Recent linkage studies mapped a susceptibility locus for stuttering to chromosome 12 in 46 highly inbred families ascertained in Pakistan. We report here on linkage studies in 100 families of European descent ascertained in the United States, Sweden, and Israel. These families included 252 individuals exhibiting persistent stuttering, 45 individuals classified as recovered from stuttering, and 19 individuals too young t
Authors: Carelli, Valerio Achilli, Alessandro Valentino, Maria Lucia Rengo, Chiara Semino, Ornella Pala, Maria Olivieri, Anna Mattiazzi, Marina Pallotti, Francesco Carrara, Franco Zeviani, Massimo Leuzzi, Vincenzo Carducci, Carla Valle, Giorgio Simionati, Barbara Mendieta, Luana Salomao, Solange Belfort Jr, Rubens Sadun, Alfredo A Torroni, Antonio
Citation: Carelli, Valerio et al., Stuttering is a speech disorder long recognized to have a genetic component. Recent linkage studies mapped a susceptibility locus for stuttering to chromosome 12 in 46 highly inbred families ascertained in Pakistan. We report here on linkage studies in 100 families of European descent ascertained in the United States, Sweden, and Israel. These families included 252 individuals exhibiting persistent stuttering, 45 individuals classified as recovered from stuttering, and 19 individuals too young t, American journal of human genetics , 78(4), 2006, pp. 564-574
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.
Authors: Zeviani, Massimo Bresolin, Nereo Gellera, Cinzia Bordoni, Andreina Pannacci, Marilou Amati, Patrizia Moggio, Maurizio Servidei, Serenella Scarlato, Guglielmo DiDonato, Stefano
Citation: Zeviani, Massimo et al., Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease., American journal of human genetics , 47-II(6), 1990, pp. 904-914
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