Publications by authors named "Leonardo Caporali"

52Publications

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

Ann Clin Transl Neurol 2021 Jan 7;8(1):247-251. Epub 2020 Dec 7.

Department of Human Neurosciences, Università di Roma La Sapienza, Rome, Italy.

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January 2021

Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.

J Neuroophthalmol 2020 Oct 27. Epub 2020 Oct 27.

Vita-Salute San Raffaele University Milan (FR, MPM, AG, VS, AA, MLC, PB, FB, MBP), Milan, Italy; IRCCS San Raffaele Scientific Institute (FR, MPM, AG, VS, AA, MLC, PB, FB, MBP), Milan, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (FP, LC, CLM, VC), Bologna, Italy; and Department of Biomedical and Neuromotor Sciences (DIBINEM) (CLM, VC), University of Bologna, Bologna, Italy.

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October 2020

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

Neurol Genet 2020 Jun 20;6(3):e428. Epub 2020 May 20.

MitoLab Team (M.C., A.C., C.B., D.G., V.D.-D., S.L., V.P., P.R., D.B., P.A.-B., G.L.), UMR CNRS 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital; Genetics and immuno-cell therapy Team (M.C.), Mohammed First University, Oujda, Morocco; Departments of Biochemistry and Genetics (C.B., D.G., V.D.-D., E.C., V.P., P.R., D.B., P.A.-B.), University Hospital Angers; Department of Ophthalmology (A.M.), Centre Hospitalier Universitaire Saint-Pierre, Brussels, Belgium; Neuroophthalmology Department (C.V.), Rothschild Ophthalmologic Foundation, Paris; Exploration of Visual Function and Neuro-Ophthalmology Department (V.S., S.D.-D., I.D.B.), Lille University Hospital, Rue Emilie Laine, Lille Cedex; CHU Bordeaux (C.G.), Service de Génétique Médicale, Centre de Référence « Neurogénétique » and Université de Bordeaux, INSERM U 1211, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM) Bordeaux; School of Optometry and Vision Sciences (M.V.), Cardiff University and Cardiff Eye Unit, University Hospital of Wales; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology (N.J., P.Y.-W.-M.), London; Department of Clinical Neurosciences (P.Y.-W.-M.), Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, University of Cambridge; Cambridge Eye Unit (P.Y.-W.-M.), Addenbrooke's Hospital, Cambridge University Hospitals, UK; IRCCS Istituto Delle Scienze Neurologiche di Bologna (F.T., L.C., C.L.M., V.C.), Bellaria Hospital; Unit of Neurology (C.L.M., V.C.), Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; Centre de Compétence Maladies Rares (X.Z.), Clinique Pluridisciplinaire Jules Verne, Nantes; and National Centre in Rare Diseases (I.M.), Genetics of Sensory Diseases, University Hospital, Montpellier, France.

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June 2020

Novel mutations in DNA2 associated with myopathy and mtDNA instability.

Ann Clin Transl Neurol 2019 09 2;6(9):1893-1899. Epub 2019 Sep 2.

Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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September 2019

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

Neurol Genet 2019 Jun 8;5(3):e329. Epub 2019 Apr 8.

IRCCS Istituto delle Scienze Neurologiche di Bologna (C.L.M., L.C., F.T., F.P., M.C., R.L., V.C.), UOC Clinica Neurologica; Dipartimento di Scienze Biomediche e Neuromotorie (C.L.M., R.L., V.C.), Università di Bologna; and Studio Oculistico d'Azeglio (P.B.), Bologna, Italy.

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June 2019

Corrigendum to: "Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III." [Biochim. Biophys. Acta 2018;1859(3):182-190.].

Biochim Biophys Acta Bioenerg 2018 12 29;1859(12):1327. Epub 2018 Jun 29.

Dipartimento di Farmacia e Biotecnologie (FABIT), Università di Bologna, Bologna, Italy. Electronic address:

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December 2018

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

Neurobiol Aging 2018 06 13;66:180.e23-180.e31. Epub 2018 Feb 13.

UOC Clinica Neurologica, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy. Electronic address:

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June 2018

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

Biochim Biophys Acta Bioenerg 2018 Mar 18;1859(3):182-190. Epub 2017 Dec 18.

Dipartimento di Farmacia e Biotecnologie (FABIT), Università di Bologna, Bologna, Italy. Electronic address:

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March 2018

Incomplete penetrance in mitochondrial optic neuropathies.

Mitochondrion 2017 09 14;36:130-137. Epub 2017 Jul 14.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy. Electronic address:

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September 2017

Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma.

Endocr Relat Cancer 2017 02 6;24(2):107-117. Epub 2017 Jan 6.

Department of Biomedical and Neuromotor SciencesSection of Anatomic Pathology 'M. Malpighi' at Bellaria Hospital, University of Bologna, Bologna, Italy

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February 2017

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

Brain 2016 06 25;139(Pt 6):e34. Epub 2016 Mar 25.

3 Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy 4 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy.

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June 2016

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

Clin Neuropharmacol 2016 Jan-Feb;39(1):18-23

*Departments of Biomedical and Neuromotor Sciences (DIBINEM) and †Medical and Surgical Sciences (DIMES), University of Bologna; and ‡IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.

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October 2016

DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

Front Genet 2015 12;6:90. Epub 2015 Mar 12.

Unit of Neurology, Department of Biomedical and NeuroMotor Sciences, University of Bologna Bologna, Italy.

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March 2015

Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations.

Int J Biochem Cell Biol 2015 Jun 7;63:21-4. Epub 2015 Feb 7.

Unit of Cellular Biochemistry, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.

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June 2015

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

Brain 2015 Mar 5;138(Pt 3):563-76. Epub 2015 Jan 5.

3 Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy 4 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy.

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March 2015

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.

Am J Ophthalmol 2014 Sep 5;158(3):628-36.e3. Epub 2014 Jun 5.

Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.

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September 2014

HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency.

J Chromatogr B Analyt Technol Biomed Life Sci 2014 Feb 8;949-950:58-62. Epub 2014 Jan 8.

IRCCS-ISNB Institute of Neurological Sciences of Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. Electronic address:

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February 2014

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies.

Neurology 2012 Oct 19;79(14):1517-9. Epub 2012 Sep 19.

Dipartimento di Scienze Biomediche e Neuromotorie, University of Bologna, Bologna, Italy.

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October 2012

The optic nerve: a "mito-window" on mitochondrial neurodegeneration.

Mol Cell Neurosci 2013 Jul 15;55:62-76. Epub 2012 Aug 15.

IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.

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July 2013

Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil.

Res Microbiol 2009 Dec 14;160(10):742-50. Epub 2009 Oct 14.

Department of Experimental Evolutionary Biology, University of Bologna, Via Irnerio 42, 40126 Bologna, Italy.

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December 2009