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A. Torraco · SciRah

Researcher profile · Semantic Scholar

A. Torraco

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A. Torraco — researcher profile on SciRah

h-index: 26
Works: 66
Citations: 1,635

Most-cited papers

Ischemic Preconditioning Targets the Respiration of Synaptic Mitochondria via Protein Kinase Cε
K. Dave, R. A. Defazio, A. Raval, A. Torraco +3 more
2008Journal of Neuroscience118 citations Open access
Semantic Scholar
MTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription
Tina Wenz, C. Luca, A. Torraco, C. T. Moraes
2009Cell Metabolism102 citations Open access
Semantic Scholar
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
L. Melchionda, T. Haack, S. Hardy, T. Abbink +25 more
2014American Journal of Human Genetics74 citations Open access
Semantic Scholar
Prefrontal dysfunction in schizophrenia controlling for COMT Val158Met genotype and working memory performance.
A. Bertolino, G. Caforio, V. Petruzzella, V. Latorre +9 more
2006Psychiatry Research66 citations
Semantic Scholar
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
C. Dallabona, T. Abbink, R. Carrozzo, A. Torraco +30 more
2016Brain : a journal of neurology65 citations Open access
Semantic Scholar
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1
Mariana Ferreira, A. Torraco, T. Rizza, F. Fattori +12 more
2011Neurogenetics54 citations
Semantic Scholar
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
R. Carrozzo, A. Torraco, G. Fiermonte, D. Martinelli +13 more
2014Mitochondrion (Amsterdam. Print)51 citations
Semantic Scholar
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
C. Nogueira, J. Barros, M. Sá, L. Azevedo +11 more
2013Neurogenetics49 citations
Semantic Scholar
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy
D. Verrigni, M. Di Nottia, A. Ardissone, E. Baruffini +23 more
2019Human Mutation48 citations Open access
Semantic Scholar
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
A. Torraco, A. Ardissone, F. Invernizzi, T. Rizza +16 more
2016Journal of Neurology47 citations
Semantic Scholar
MITOCHONDRIAL DISEASES PART I: MOUSE MODELS OF OXPHOS DEFICIENCIES CAUSED BY DEFECTS ON RESPIRATORY COMPLEX SUBUNITS OR ASSEMBLY FACTORS
A. Torraco, Susana Peralta, L. Iommarini, Francisca Diaz
2015Mitochondrion (Amsterdam. Print)46 citations Open access
Semantic Scholar
Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial.
A. Torraco, R. Carrozzo, F. Piemonte, A. Pastore +9 more
2014Biochimie46 citations
Semantic Scholar
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
M. Catteruccia, D. Verrigni, D. Martinelli, A. Torraco +9 more
2014Molecular Genetics and Metabolism43 citations
Semantic Scholar
Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.
Susana Peralta, A. Torraco, Tina Wenz, Sofia Garcia +2 more
2014Human Molecular Genetics43 citations Open access
Semantic Scholar
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
M. Di Nottia, Maria Marchese, D. Verrigni, C. Mutti +15 more
2020Neurobiology of Disease42 citations Open access
Semantic Scholar
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
D. Verrigni, D. Diodato, M. Di Nottia, A. Torraco +9 more
2017Clinical Genetics40 citations
Semantic Scholar
Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.
A. Torraco, Francisca Diaz, U. Vempati, C. T. Moraes
2009Biochimica et Biophysica Acta39 citations Open access
Semantic Scholar
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches
M. Di Nottia, D. Verrigni, A. Torraco, T. Rizza +2 more
2021Genes38 citations Open access
Semantic Scholar
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis
A. Torraco, D. Verrigni, T. Rizza, M. Meschini +8 more
2012Neurogenetics37 citations
Semantic Scholar
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Michelangelo Cao, M. Donà, Lucia Valentino, C. Semplicini +12 more
2015Neurogenetics36 citations
Semantic Scholar
Mouse models of oxidative phosphorylation dysfunction and disease
U. Vempati, A. Torraco, C. T. Moraes
2008Methods34 citations Open access
Semantic Scholar
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
A. Torraco, Marzia Bianchi, D. Verrigni, Vania Gelmetti +18 more
2017Clinical Genetics31 citations Open access
Semantic Scholar
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins
A. Torraco, O. Stehling, Claudia Stümpfig, Ralf Rösser +13 more
2018Human Molecular Genetics30 citations Open access
Semantic Scholar
Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit
V. Petruzzella, G. Giacinto, S. Scacco, F. Piemonte +8 more
2003Neurology29 citations
Semantic Scholar
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
R. Sharkia, K. Wierenga, Amit Kessel, A. Azem +15 more
2019Journal of Inherited Metabolic Disease27 citations
Semantic Scholar
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
L. Bisceglia, S. Zoccolella, A. Torraco, M. R. Piemontese +10 more
2010European Journal of Human Genetics27 citations Open access
Semantic Scholar
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation
M. Di Nottia, A. Montanari, D. Verrigni, R. Oliva +11 more
2017Biochimica et Biophysica Acta - Molecular Basis of Disease26 citations Open access
Semantic Scholar
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis
Barbara Carletti, Emanuela Piermarini, G. Tozzi, L. Travaglini +7 more
2014International Journal of Molecular Sciences26 citations Open access
Semantic Scholar
Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1
S. Travaglione, S. Loizzo, T. Rizza, Antonella Del Brocco +8 more
2014The FEBS Journal25 citations
Semantic Scholar
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants
V. Petruzzella, Damiano Panelli, A. Torraco, A. Stella +1 more
2005FEBS Letters25 citations
Semantic Scholar
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
Andrew Y. Sung, Rachel M. Guerra, Laura H. Steenberge, C. Alston +11 more
2024Nature Metabolism24 citations Open access
Semantic Scholar
Expanded phenotype of AARS1-related white matter disease
G. Helman, Marisa I. Mendes, F. Nicita, Lama Darbelli +33 more
2021Genetics in Medicine23 citations Open access
Semantic Scholar
MITOCHONDRIAL DISEASES PART II: MOUSE MODELS OF OXPHOS DEFICIENCIES CAUSED BY DEFECTS IN REGULATORY FACTORS AND OTHER COMPONENTS REQUIRED FOR MITOCHONDRIAL FUNCTION
L. Iommarini, Susana Peralta, A. Torraco, Francisca Diaz
2015Mitochondrion (Amsterdam. Print)23 citations Open access
Semantic Scholar
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
A. Torraco, A. Nasca, D. Verrigni, Alessandra Pennisi +18 more
2021Human Mutation22 citations Open access
Semantic Scholar
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation
V. Petruzzella, S. Zoccolella, A. Amati, A. Torraco +4 more
2003Clinical Genetics18 citations
Semantic Scholar
Novel TOP3A Variant Associated With Mitochondrial Disease
G. Primiano, A. Torraco, D. Verrigni, Andrea Sabino +4 more
2022Neurology: Genetics17 citations Open access
Semantic Scholar
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
V. Petruzzella, A. Tessa, A. Torraco, F. Fattori +6 more
2007Biochemical and Biophysical Research Communications - BBRC16 citations Open access
Semantic Scholar
Mutations in structural genes of complex I associated with neurological diseases.
S. Scacco, V. Petruzzella, E. Bertini, Arcangela Luso +5 more
2006Italian Journal of Biochemistry16 citations
Semantic Scholar
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
R. Kaiyrzhanov, Sami E M Mohammed, R. Maroofian, Ralf A. Husain +50 more
2022American Journal of Human Genetics13 citations Open access
Semantic Scholar
Silencing of the mitochondrial ribosomal protein L-24 gene activates the oxidative stress response in Caenorhabditis elegans.
Graziella Ficociello, Emily Schifano, M. Di Nottia, A. Torraco +3 more
2022Biochimica et Biophysica Acta - General Subjects12 citations
Semantic Scholar
MITOCHONDRIAL DISEASES PART III: THERAPEUTIC INTERVENTIONS IN MOUSE MODELS OF OXPHOS DEFICIENCIES
Susana Peralta, A. Torraco, L. Iommarini, Francisca Diaz
2015Mitochondrion (Amsterdam. Print)12 citations Open access
Semantic Scholar
Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
L. Melchionda, T. Haack, S. Hardy, T. Abbink +25 more
201711 citations
Semantic Scholar
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy
M. Bianchi, T. Rizza, D. Verrigni, D. Martinelli +11 more
2011Biochemical and Biophysical Research Communications - BBRC9 citations Open access
Semantic Scholar
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
B. Berti, D. Verrigni, A. Nasca, M. Di Nottia +14 more
2024International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
A. Torraco, O. Stehling, Claudia Stümpfig, Ralf Rösser +13 more
2018Human Molecular Genetics8 citations Open access
Semantic Scholar
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature
A. Torraco, S. Morlino, T. Rizza, M. Di Nottia +7 more
2022Clinical Genetics7 citations Open access
Semantic Scholar
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity
F. Vallese, L. Maso, Flavia Giamogante, E. Poggio +19 more
2022Cell Death and Disease7 citations Open access
Semantic Scholar
Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria
B. Rivalta, A. Torraco, D. Martinelli, M. Luciani +2 more
2022Pediatric Allergy and Immunology6 citations Open access
Semantic Scholar
Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.
S. Zoccolella, A. Torraco, A. Amati, P. Lamberti +3 more
2006Functional Neurology6 citations
Semantic Scholar
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
F. Nardecchia, R. Carrozzo, Alice Innocenti, A. Torraco +5 more
2024Annals of Clinical and Translational Neurology4 citations Open access
Semantic Scholar

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R. Carrozzo×34
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R. Carrozzo — researcher profile on SciRah
E. Bertini×22
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E. Bertini — researcher profile on SciRah
T. Rizza×20
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T. Rizza — researcher profile on SciRah
D. Verrigni×19
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M. Di Nottia — researcher profile on SciRah

D. Martinelli×13

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C. Dionisi-Vici×13

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F. Piemonte×12

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