Polymerase γ Gene POLG determines the risk of sodium valproate‐induced liver toxicity JD Stewart, R Horvath, E Baruffini, I Ferrero, S Bulst, PB Watkins, ... Hepatology 52 (5), 1791-1796, 2010 | 247 | 2010 |
Novel (ovario) leukodystrophy related to AARS2 mutations C Dallabona, D Diodato, SH Kevelam, TB Haack, LJ Wong, GS Salomons, ... Neurology 82 (23), 2063-2071, 2014 | 214 | 2014 |
Clinical and molecular features of mitochondrial DNA depletion syndromes A Spinazzola, F Invernizzi, F Carrara, E Lamantea, A Donati, M Dirocco, ... Journal of inherited metabolic disease 32, 143-158, 2009 | 214 | 2009 |
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis D Ghezzi, E Baruffini, TB Haack, F Invernizzi, L Melchionda, C Dallabona, ... The American Journal of Human Genetics 90 (6), 1079-1087, 2012 | 206 | 2012 |
OPA1 isoforms in the hierarchical organization of mitochondrial functions V Del Dotto, P Mishra, S Vidoni, M Fogazza, A Maresca, L Caporali, ... Cell reports 19 (12), 2557-2571, 2017 | 194 | 2017 |
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy TB Haack, R Kopajtich, P Freisinger, T Wieland, J Rorbach, TJ Nicholls, ... The American Journal of Human Genetics 93 (2), 211-223, 2013 | 153 | 2013 |
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA JW Yarham, TN Lamichhane, A Pyle, S Mattijssen, E Baruffini, F Bruni, ... PLoS genetics 10 (6), e1004424, 2014 | 132 | 2014 |
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies D Diodato, L Melchionda, TB Haack, C Dallabona, E Baruffini, C Donnini, ... Human mutation 35 (8), 983-989, 2014 | 120 | 2014 |
Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island A Hadchouel, T Wieland, M Griese, E Baruffini, B Lorenz-Depiereux, ... The American Journal of Human Genetics 96 (5), 826-831, 2015 | 112 | 2015 |
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive … E Baruffini, T Lodi, C Dallabona, A Puglisi, M Zeviani, I Ferrero Human molecular genetics 15 (19), 2846-2855, 2006 | 96 | 2006 |
MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast E Baruffini, C Dallabona, F Invernizzi, JW Yarham, L Melchionda, ... Human mutation 34 (11), 1501-1509, 2013 | 86 | 2013 |
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy A Nasca, A Legati, E Baruffini, C Nolli, I Moroni, A Ardissone, P Goffrini, ... Human mutation 37 (9), 898-903, 2016 | 72 | 2016 |
Defective PITRM 1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration D Brunetti, J Torsvik, C Dallabona, P Teixeira, P Sztromwasser, ... EMBO molecular medicine 8 (3), 176-190, 2016 | 65 | 2016 |
In vivo analysis of mtDNA replication defects in yeast E Baruffini, I Ferrero, F Foury Methods 51 (4), 426-436, 2010 | 59 | 2010 |
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human E Baruffini, I Ferrero, F Foury Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1772 (11-12 …, 2007 | 58 | 2007 |
Insights into physiological and genetic mupirocin susceptibility in bifidobacteria F Serafini, F Bottacini, A Viappiani, E Baruffini, F Turroni, E Foroni, T Lodi, ... Applied and environmental microbiology 77 (9), 3141-3146, 2011 | 49 | 2011 |
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models V Del Dotto, M Fogazza, F Musiani, A Maresca, SJ Aleo, L Caporali, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1864 (10 …, 2018 | 43 | 2018 |
Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1 E Baruffini, P Goffrini, C Donnini, T Lodi FEMS yeast research 6 (8), 1235-1242, 2006 | 43 | 2006 |
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy D Verrigni, M Di Nottia, A Ardissone, E Baruffini, A Nasca, A Legati, ... Human mutation 40 (5), 601-618, 2019 | 38 | 2019 |
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features C Benincá, V Zanette, M Brischigliaro, M Johnson, A Reyes, DA do Valle, ... Journal of medical genetics 58 (3), 155-167, 2021 | 37 | 2021 |