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Enrico Baruffini
Enrico Baruffini
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale, University of Parma
Verified email at unipr.it
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Cited by
Year
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
2462010
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
2132009
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
2122014
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
2052012
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
1922017
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
1522013
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
1322014
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
1202014
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
1112015
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
962006
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
862013
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
722016
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
652016
In vivo analysis of mtDNA replication defects in yeast
E Baruffini, I Ferrero, F Foury
Methods 51 (4), 426-436, 2010
582010
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
582007
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
492011
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
432006
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
422018
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
382019
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
362021
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