Leonardo Caporali

educated at: University of Bologna

occupation: researcher

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Articles 53

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Title

Authors

2022-06-01

The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

Marco Rosario Capodiferro, Giulio Formenti, Leonardo Caporali, Hovirag Lancioni, Guido Roberto Gallo, Alessandra Costanzo, Andrea Romano, Cristina Cereda, Valerio Carelli, Yang Liu, Yosef Kiat, Alfonso Marzal, Javier Balbontín, Timothy A. Mousseau, Piotr Matyjasiak, Anders Pape Møller, Ornella Semino, Roberto Ambrosini, Andrea Bonisoli Alquati, Diego Rubolini, Luca Ferretti, Alessandro Achilli, Luca Gianfranceschi, Anna Olivieri, Antonio Torroni
2021-01-21

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

Alessandra Maresca, Leonardo Caporali, Flavia Palombo, Elena Bacchelli, Elena Maestrini
2021-02-15

Epilepsy with auditory features: Contribution of known genes in 112 patients

Francesca Bisulli, Sara Baldassari, Corrado Zenesini, Leonardo Caporali, Laura Licchetta
2020-01-01

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Farid Ullah, Ivano Di Meo, Alessandra Maresca, Leonardo Caporali, Flavia Palombo, William C Copeland, Valeria Tiranti, Piero Barboni
2020-03-16

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Alessandra Maresca, Leonardo Caporali, Piero Barboni
2020-03-26

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy

Leonardo Caporali, Davide Pareyson, Mingyan Fang, Daniele Ghezzi, Piero Barboni
2020-01-27

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism

Alessandra Maresca, Leonardo Caporali, Letizia Scandiffio, Francesco Musiani
2020-06-01

Mitochondrial diseases in adults

Chiara La Morgia, Alessandra Maresca, Leonardo Caporali, Maria Lucia Valentino, Valerio Carelli
2020-05-20

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Majida Charif, Arnaud Chevrollier, Neringa Jurkute, Leonardo Caporali, Chiara La Morgia, Guy Lenaers
2020-06-23

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Alessandra Maresca, Leonardo Caporali, Piero Barboni
2020-12-07

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

Leonardo Caporali, Vincenzo Leuzzi
2019-04-08

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

Leonardo Caporali, Flavia Palombo, Piero Barboni
2019-04-01

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

Gaetano Cantalupo, Leonardo Caporali, Renzo Guerrini, Heather C. Mefford, Lorenzo Muccioli, Paolo Tinuper
2019-09-02

Novel mutations in DNA2 associated with myopathy and mtDNA instability

Leonardo Caporali, Giacomo P Comi
2018-01-18

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy

David Manners, Leonardo Caporali, Maria Lucia Valentino, Giuseppe Plazzi, Piero Parchi, Rita Rinaldi, Roberto De Giorgio, Raffaele Lodi, Laura Ludovica Gramegna, Annalinda Pisano, Claudia Testa, Roberto D'Angelo, Elisa Boschetti, Fiorella Giancola, Loris Pironi, Mariantonietta Capristo, Carlo Casali, Maria Teresa Dotti, Giovanna Cenacchi, Michio Hirano, Carla Giordano, Valerio Carelli, Caterina Tonon
2018-02-14

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Leonardo Caporali, Alessandro Achilli, Luisa Iommarini, Alessandra Maresca, Mariantonietta Capristo, Francesca Tagliavini, Valentina Del Dotto, Piero Barboni, Michele Carbonelli, Monica Montopoli, Giovanna Cenacchi, Giuseppe De Michele
2018-02-01

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models.

Valeria Tiranti, Alessandra Maresca, Luca Massimino, Giuseppe Morabito, Leonardo Caporali, Erwan Bezard, Vania Broccoli
2018-02-13

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.

Leonardo Caporali, Anna Bartoletti Stella, Michelangelo Stanzani Maserati, Piero Parchi, Sabina Capellari, Simone Baiardi, Samir Abu-Rumeileh, Silvia Piras, Rocco Liguori
2018-02-24

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases

Leonardo Caporali, Luisa Iommarini, Alessandra Maresca
2018-06-01

Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria

Matteo Soverini, Leonardo Caporali, Jessica Fiori
2018-08-04

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

Valentina Del Dotto, Francesco Musiani, Alessandra Maresca, Leonardo Caporali
2017-07-05

Whole Mitogenomes Reveal the History of Swamp Buffalo: Initially Shaped by Glacial Periods and Eventually Modelled by Domestication

Alessandro Achilli, Marco Rosario Capodiferro, Hovirag Lancioni, Metha Wanapat, Leonardo Caporali
2017-07-14

Incomplete penetrance in mitochondrial optic neuropathies

Leonardo Caporali, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto
2017-01-06

Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma

Leonardo Caporali, Luca Morandi, Anna Sapino, Sofia Asioli, Alberto Righi, Francesca Maletta
2017-06-01

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions

Valentina Del Dotto, Alessandra Maresca, Leonardo Caporali, Martina Cappelletti, Enrico Baruffini, Guy Lenaers
2017-12-18

Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III.

Leonardo Caporali, Jessica Fiori
2017-12-08

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Leonardo Caporali, Luca Bello, Alessandra Maresca, Rocco Liguori, Diego Cecchin
2017-03-02

Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy

Loris Pironi, Elisa Boschetti, Mariantonietta Capristo, Susan Mohamed, Leonardo Caporali
2016-03-23

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy

Rita Rinaldi, Elisa Boschetti, Leonardo Caporali, Mariantonietta Capristo, Giovanna Cenacchi, Loris Pironi, Marta Stanzani
2016-03-25

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Rocco Liguori, Pietro Scimemi, Leonardo Caporali
2016

Pharmacogenetics and Treatment Response in Narcolepsy Type 1: Relevance of the Polymorphisms of the Drug Transporter Gene ABCB1,Pharmacogenetics and Treatment Response in Narcolepsy Type 1

Leonardo Caporali
2015-08-01

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Robert B Hufnagel, Leonardo Caporali, Chiara La Morgia, Alessandra Maresca, Rocco Liguori, Raffaele Lodi, Carlos E Prada, Valerio Carelli, Taosheng Huang, Omar A Abdul-Rahman

Human - wd:Q44456090

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