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D. Ghezzi

American Journal of Human Genetics, Nature Genetics, Nature Communications, Brain : a journal of neurology, European Journal of Human Genetics, Neurology, Advances in Experimental Medicine and Biology Show more
11
Role
Title
Level Year L/R
🐜 Genetic diagnosis of Mendelian disorders via RNA sequencing
32 auth. Laura S. Kremer, Daniel M Bader, Christian Mertes, R. Kopajtich, G. Pichler, A. Iuso, T. Haack, E. Graf, T. Schwarzmayr, Caterina Terrile, E. Koňaříková, B. Repp, G. Kastenmüller, J. Adamski, P. Lichtner, ... Christoph Leonhardt, B. Funalot, A. Donati, V. Tiranti, A. Lombès, C. Jardel, D. Gläser, Robert W. Taylor, D. Ghezzi, J. Mayr, A. Rötig, P. Freisinger, F. Distelmaier, T. Strom, T. Meitinger, J. Gagneur, H. Prokisch 		8 2017
8
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🦁 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
13 auth. D. Ghezzi, P. Goffrini, G. Uziel, R. Horvath, T. Klopstock, H. Lochmüller, P. D'Adamo, P. Gasparini, T. Strom, H. Prokisch, ... F. Invernizzi, I. Ferrero, M. Zeviani 		7 2009
7
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🐜 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
15 auth. Marjan E. Steenweg, D. Ghezzi, T. Haack, T. Abbink, D. Martinelli, C. V. van Berkel, A. Bley, L. Diogo, E. Grillo, J. te Water Naudé, ... T. Strom, E. Bertini, H. Prokisch, M. S. van der Knaap, M. Zeviani 		7 2012
7
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🦁 Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
10 auth. D. Ghezzi, I. Sevrioukova, F. Invernizzi, C. Lamperti, M. Mora, P. D'Adamo, ... F. Novara, O. Zuffardi, G. Uziel, M. Zeviani 		7 2010
7
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🦁 Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
24 auth. D. Ghezzi, C. Marelli, A. Achilli, S. Goldwurm, G. Pezzoli, P. Barone, M. T. Pellecchia, P. Stanzione, L. Brusa, A. Bentivoglio, ... U. Bonuccelli, L. Petrozzi, G. Abbruzzese, R. Marchese, P. Cortelli, D. Grimaldi, P. Martinelli, C. Ferrarese, B. Garavaglia, S. Sangiorgi, V. Carelli, A. Torroni, A. Albanese, M. Zeviani 		7 2005
7
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🐜 Novel (ovario) leukodystrophy related to AARS2 mutations
28 auth. C. Dallabona, D. Diodato, S. Kevelam, T. Haack, L. Wong, G. Salomons, E. Baruffini, L. Melchionda, C. Mariotti, T. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, ... K. Õunap, R. Schiffmann, E. Salsano, M. Savoiardo, Eline M C Hamilton, T. Abbink, N. Wolf, I. Ferrero, C. Lamperti, M. Zeviani, A. Vanderver, D. Ghezzi, M. S. van der Knaap 		7 2014
7
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🦁 Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
13 auth. D. Ghezzi, E. Baruffini, T. Haack, F. Invernizzi, L. Melchionda, C. Dallabona, T. Strom, R. Parini, A. Burlina, T. Meitinger, ... H. Prokisch, I. Ferrero, M. Zeviani 		7 2012
7
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🦁 Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
13 auth. D. Ghezzi, Paola Arzuffi, M. Zordan, C. D. Rè, C. Lamperti, C. Benna, P. D'Adamo, D. Diodato, R. Costa, C. Mariotti, ... G. Uziel, C. Smiderle, M. Zeviani 		7 2011
7
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🐜 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
40 auth. Xiaowu Gai, D. Ghezzi, Mark A. Johnson, Caroline A Biagosch, H. Shamseldin, T. Haack, A. Reyes, Mai Tsukikawa, C. Sheldon, S. Srinivasan, M. Gorza, Laura S. Kremer, T. Wieland, T. Strom, E. Polyák, ... E. Place, Mark B. Consugar, Julian Ostrovsky, S. Vidoni, A. Robinson, L. Wong, N. Sondheimer, M. Salih, E. Al-Jishi, C. P. Raab, Charles Bean, F. Furlan, R. Parini, C. Lamperti, J. Mayr, V. Konstantopoulou, M. Huemer, E. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F. Alkuraya, Marni J. Falk, M. Zeviani 		7 2013
7
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🦁 Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.
D. Ghezzi, M. Zeviani 		7 2012
7
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🐜 Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
51 auth. R. Kopajtich, T. Nicholls, J. Rorbach, Metodi D. Metodiev, P. Freisinger, H. Mandel, A. Vanlander, D. Ghezzi, R. Carrozzo, Robert W. Taylor, K. Marquard, K. Murayama, T. Wieland, T. Schwarzmayr, J. Mayr, ... Sarah F Pearce, Christopher A. Powell, Ann Saada, A. Ohtake, F. Invernizzi, E. Lamantea, E. Sommerville, A. Pyle, P. Chinnery, E. Crushell, Y. Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, M. Rio, F. Feillet, B. Mousson de Camaret, D. Chrétien, A. Munnich, B. Menten, T. Sante, J. Smet, L. Régal, A. Lorber, A. Khoury, M. Zeviani, T. Strom, T. Meitinger, E. Bertini, R. Van Coster, T. Klopstock, A. Rötig, T. Haack, M. Minczuk, H. Prokisch 		7 2014
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