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L. Caporali · SciRah

Researcher profile · Semantic Scholar

L. Caporali

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L. Caporali — researcher profile on SciRah

h-index: 30
Works: 143
Citations: 4,086

Most-cited papers

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.
V. Del Dotto, Prashant Mishra, S. Vidoni, M. Fogazza +10 more
2017Cell Reports223 citations Open access
Semantic Scholar
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models
Angelo Iannielli, Simone Bido, Lucrezia Folladori, Alice Segnali +13 more
2018Cell Reports214 citations Open access
Semantic Scholar
Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria.
F. Ayeni, E. Biagi, S. Rampelli, J. Fiori +9 more
2018Cell Reports166 citations Open access
Semantic Scholar
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
S. L. Stenton, N. L. Sheremet, C. Catarino, N. Andreeva +50 more
2021Journal of Clinical Investigation130 citations Open access
Semantic Scholar
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
V. Del Dotto, Farid Ullah, I. Di Meo, P. Magini +43 more
2019Journal of Clinical Investigation82 citations Open access
Semantic Scholar
Incomplete penetrance in mitochondrial optic neuropathies.
L. Caporali, A. Maresca, M. Capristo, V. Del Dotto +4 more
2017Mitochondrion (Amsterdam. Print)68 citations Open access
Semantic Scholar
Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy
A. Danese, S. Patergnani, A. Maresca, Camille Peron +26 more
2022Cell Reports65 citations Open access
Semantic Scholar
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy
L. Caporali, L. Iommarini, C. La Morgia, A. Olivieri +21 more
2018PLoS Genetics52 citations Open access
Semantic Scholar
Mitochondrial diseases in adults
C. La Morgia, A. Maresca, L. Caporali, M. L. Valentino +1 more
2020Journal of Internal Medicine49 citations Open access
Semantic Scholar
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models.
V. Del Dotto, M. Fogazza, F. Musiani, A. Maresca +11 more
2018Biochimica et Biophysica Acta - Molecular Basis of Disease49 citations Open access
Semantic Scholar
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
C. La Morgia, A. Maresca, Giulia Amore, L. Gramegna +20 more
2020Scientific Reports46 citations Open access
Semantic Scholar
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
L. Caporali, S. Magri, A. Legati, V. Del Dotto +27 more
2020Annals of Neurology46 citations Open access
Semantic Scholar
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
M. Charif, A. Chevrollier, N. Gueguen, C. Bris +24 more
2020Neurology: Genetics39 citations Open access
Semantic Scholar
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
M. Charif, N. Gueguen, Marc Ferré, Z. Elkarhat +33 more
2021Brain Communications35 citations Open access
Semantic Scholar
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism
A. Maresca, V. Del Dotto, M. Capristo, Emanuela Scimonelli +22 more
2020Human Molecular Genetics29 citations Open access
Semantic Scholar
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.
D. Strobbe, L. Caporali, L. Iommarini, A. Maresca +7 more
2018Neurobiology of Disease28 citations Open access
Semantic Scholar
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.
R. D’Angelo, R. Rinaldi, L. Pironi, M. Dotti +8 more
2017Mitochondrion (Amsterdam. Print)27 citations
Semantic Scholar
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion
J. Misic, Dusanka Milenkovic, A. Al-Behadili, Xie Xie +16 more
2022Nucleic Acids Research25 citations Open access
Semantic Scholar
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
S. J. Aleo, V. Del Dotto, Martina Romagnoli, Claudio Fiorini +38 more
2024Cell Reports Medicine24 citations Open access
Semantic Scholar
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population
M. Bacalini, Flavia Palombo, P. Garagnani, C. Giuliani +43 more
2021GeroScience23 citations Open access
Semantic Scholar
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications
R. D’Angelo, E. Boschetti, Giulia Amore, R. Costa +25 more
2020Journal of Neurology23 citations
Semantic Scholar
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
A. Bartoletti-Stella, Simone Baiardi, Michelangelo Stanzani-Maserati, S. Piras +10 more
2018Neurobiology of Aging23 citations
Semantic Scholar
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions
L. Caporali, L. Bello, F. Tagliavini, C. La Morgia +7 more
2018Brain : a journal of neurology22 citations
Semantic Scholar
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors
Oleksiy Tsybrovskyy, Monica De Luise, D. de Biase, L. Caporali +8 more
2021The Journal of Pathology: Clinical Research21 citations Open access
Semantic Scholar
Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights.
P. Barboni, C. La Morgia, M. Cascavilla, E. Hong +18 more
2022American journal of ophthalmology-glaucoma20 citations Open access
Semantic Scholar
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
L. Gramegna, A. Pisano, C. Testa, D. Manners +19 more
2018American Journal of Neuroradiology20 citations Open access
Semantic Scholar
The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)
Gianluca Lombardo, Nicola Rambaldi Migliore, G. Colombo, M. Capodiferro +30 more
2022Molecular biology and evolution19 citations Open access
Semantic Scholar
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
F. Nardecchia, Agnese De Giorgi, Flavia Palombo, Claudio Fiorini +4 more
2020Annals of Clinical and Translational Neurology19 citations Open access
Semantic Scholar
The relevance of migraine in the clinical spectrum of mitochondrial disorders
Alberto Terrin, L. Bello, M. L. Valentino, L. Caporali +5 more
2022Scientific Reports17 citations Open access
Semantic Scholar
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
L. Peverelli, Alessia Catania, S. Marchet, P. Ciasca +12 more
2021Frontiers in Neurology17 citations Open access
Semantic Scholar
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
M. Brugger, Antonella Lauri, Y. Zhen, L. Gramegna +36 more
2024American Journal of Human Genetics15 citations Open access
Semantic Scholar
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
Claudio Fiorini, A. Degiorgi, M. Cascavilla, C. V. Tropeano +11 more
2023Journal of Medical Genetics15 citations Open access
Semantic Scholar
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
Claudio Fiorini, D. Ormanbekova, Flavia Palombo, M. Carbonelli +16 more
2023Brain : a journal of neurology15 citations Open access
Semantic Scholar
The pattern of retinal ganglion cell loss in Wolfram syndrome is distinct from mitochondrial optic neuropathies.
P. Barboni, Giulia Amore, M. Cascavilla, Marco Battista +19 more
2022American journal of ophthalmology-glaucoma15 citations
Semantic Scholar
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
Marco Percetti, G. Franco, E. Monfrini, L. Caporali +18 more
2022Movement Disorders15 citations Open access
Semantic Scholar
Capturing the pattern of transition from carrier to affected in Leber's hereditary optic neuropathy.
M. Carbonelli, C. La Morgia, Martina Romagnoli, Giulia Amore +11 more
2022American journal of ophthalmology-glaucoma15 citations Open access
Semantic Scholar
Epilepsy with auditory features: Contribution of known genes in 112 patients.
F. Bisulli, C. Rinaldi, T. Pippucci, R. Minardi +10 more
2020Seizure15 citations Open access
Semantic Scholar
Novel mutations in DNA2 associated with myopathy and mtDNA instability
D. Ronchi, Changwei Liu, L. Caporali, D. Piga +9 more
2019Annals of Clinical and Translational Neurology15 citations Open access
Semantic Scholar
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations
L. Gramegna, S. Evangelisti, L. Di Vito, C. La Morgia +13 more
2021Annals of Clinical and Translational Neurology14 citations Open access
Semantic Scholar
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation.
S. Evangelisti, L. Gramegna, C. La Morgia, L. Di Vito +12 more
2021Molecular Genetics and Metabolism13 citations
Semantic Scholar
Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
L. Licchetta, Lorenzo Ferri, C. La Morgia, C. Zenesini +12 more
2021Annals of Clinical and Translational Neurology13 citations Open access
Semantic Scholar
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
Firuzeh Rajabian, M. P. Manitto, Flavia Palombo, L. Caporali +9 more
2020Journal of neuro-ophthalmology13 citations Open access
Semantic Scholar
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
Ilaria Pettenuzzo, S. Carli, Ana Sánchez-Cuesta, Federica Isidori +22 more
2024European Journal of Human Genetics12 citations Open access
Semantic Scholar
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
C. La Morgia, L. Caporali, F. Tagliavini, Flavia Palombo +4 more
2019Neurology: Genetics12 citations Open access
Semantic Scholar
Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts
Daniele Boso, Martina Tognon, M. Curtarello, S. Minuzzo +18 more
2023Journal of experimental & clinical cancer research : CR11 citations Open access
Semantic Scholar
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys
M. Capristo, V. Del Dotto, C. V. Tropeano, Claudio Fiorini +6 more
2022Molecular Medicine11 citations Open access
Semantic Scholar
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs
Flavia Palombo, Camille Peron, L. Caporali, Angelo Iannielli +12 more
2021Stem Cell Reports11 citations Open access
Semantic Scholar
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: expanding clinical and MRI phenotypes.
V. Vacchiano, L. Caporali, C. La Morgia, M. Carbonelli +15 more
2021Mitochondrion (Amsterdam. Print)10 citations
Semantic Scholar
Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models
Daniele Boso, I. Piga, Chiara Trento, S. Minuzzo +16 more
2024Journal of experimental & clinical cancer research : CR9 citations Open access
Semantic Scholar
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder
L. Caporali, Claudio Fiorini, Flavia Palombo, Martina Romagnoli +17 more
2022Frontiers in Genetics9 citations Open access
Semantic Scholar

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V. Carelli×42
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C. La Morgia×31
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C. La Morgia — researcher profile on SciRah
A. Maresca×21
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M. L. Valentino×17
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P. Barboni — researcher profile on SciRah

M. Carbonelli×14

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M. Carbonelli — researcher profile on SciRah

F. Tagliavini×13

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F. Tagliavini — researcher profile on SciRah

M. Capristo×13

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M. Capristo — researcher profile on SciRah

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Claudio Fiorini×12

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Claudio Fiorini — researcher profile on SciRah

V. Del Dotto×11

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V. Del Dotto — researcher profile on SciRah

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Flavia Palombo — researcher profile on SciRah