Publications by authors named "Valerio Carelli"

100Publications

Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation.

J Neuroophthalmol 2020 Sep 21. Epub 2020 Sep 21.

Departments of Ophthalmology (NJN), Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, Georgia, IRCCS Istituto Delle Scienze Neurologiche di Bologna (VC), UOC Clinica Neurologica, Bologna, Italy, Department of Biomedical and Neuromotor Sciences (DIBINEM) (VC), Unit of Neurology, University of Bologna, Bologna, Italy, GenSight Biologics (MT), Paris, France, Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit (PY-W-M), Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom, Cambridge Eye Unit (PY-W-M), Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, United Kingdom, Moorfields Eye Hospital (PY-W-M), London, United Kingdom, and UCL Institute of Ophthalmology (PY-W-M), University College London, London, United Kingdom.

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http://dx.doi.org/10.1097/WNO.0000000000001045DOI Listing
September 2020

Expanding and validating the biomarkers for mitochondrial diseases.

J Mol Med (Berl) 2020 Oct 26;98(10):1467-1478. Epub 2020 Aug 26.

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.

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http://dx.doi.org/10.1007/s00109-020-01967-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524861PMC
October 2020

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).

Stem Cell Res 2020 10 3;48:101939. Epub 2020 Aug 3.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2020.101939DOI Listing
October 2020

Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

Clin Genet 2020 Nov 1;98(5):477-485. Epub 2020 Sep 1.

IRCCS, Istituto delle Scienze Neurologiche di Bologna (Reference Center for Rare and Complex Epilepsies-EpiCARE), Bologna, Italy.

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http://dx.doi.org/10.1111/cge.13823DOI Listing
November 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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http://dx.doi.org/10.1212/NXG.0000000000000428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251510PMC
June 2020

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy.

Ann Clin Transl Neurol 2020 04 3;7(4):590-594. Epub 2020 Apr 3.

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Ospedale Bellaria, Bologna, Italy.

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http://dx.doi.org/10.1002/acn3.51026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187718PMC
April 2020

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.

J Clin Sleep Med 2020 01 6;16(1):143-147. Epub 2019 Dec 6.

Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna,Bologna, Italy.

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http://dx.doi.org/10.5664/jcsm.8140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052993PMC
January 2020

Fine-tuning of the respiratory complexes stability and supercomplexes assembly in cells defective of complex III.

Biochim Biophys Acta Bioenerg 2020 02 9;1861(2):148133. Epub 2019 Dec 9.

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

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http://dx.doi.org/10.1016/j.bbabio.2019.148133DOI Listing
February 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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http://dx.doi.org/10.1002/acn3.50888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764641PMC
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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http://dx.doi.org/10.1212/NXG.0000000000000329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499220PMC
June 2019

Exploring metabolic reprogramming in melanoma via acquired resistance to the oxidative phosphorylation inhibitor phenformin.

Melanoma Res 2020 02;30(1):1-13

Laboratory of Translational Research, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia.

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http://dx.doi.org/10.1097/CMR.0000000000000624DOI Listing
February 2020

Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber's Hereditary Optic Neuropathy during One Year of Follow-up.

Ophthalmology 2019 07 26;126(7):1033-1044. Epub 2019 Feb 26.

Studio Oculistico d'Azeglio, Bologna, Italy; IRCCS Istituto Scientifico San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1016/j.ophtha.2019.02.018DOI Listing
July 2019

Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology.

Front Neurol 2018 7;9:1047. Epub 2018 Dec 7.

Unità Operativa Complessa Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.

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https://www.frontiersin.org/article/10.3389/fneur.2018.01047
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http://dx.doi.org/10.3389/fneur.2018.01047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292931PMC
December 2018

Effects of Light Treatment on Sleep, Cognition, Mood, and Behavior in Alzheimer's Disease: A Systematic Review.

Dement Geriatr Cogn Disord 2018 11;46(5-6):371-384. Epub 2018 Dec 11.

Department of Biomedical and NeuroMotor Sciences, Functional MR Unit, University of Bologna, Bologna, Italy,

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http://dx.doi.org/10.1159/000494921DOI Listing
May 2019

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years.

Essays Biochem 2018 07 20;62(3):235-254. Epub 2018 Jul 20.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

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http://dx.doi.org/10.1042/EBC20170097DOI Listing
July 2018

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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http://dx.doi.org/10.1016/j.bbabio.2018.06.010DOI Listing
December 2018

The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects.

Biochim Biophys Acta Bioenerg 2018 09 22;1859(9):901-908. Epub 2018 Apr 22.

CNR Neuroscience Institute and Department of Biomedical Sciences, University of Padova, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2018.04.006DOI Listing
September 2018

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

Neurobiol Dis 2018 06 24;114:129-139. Epub 2018 Feb 24.

Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.02.010DOI Listing
June 2018

OPA1: How much do we know to approach therapy?

Pharmacol Res 2018 05 15;131:199-210. Epub 2018 Feb 15.

Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.phrs.2018.02.018DOI Listing
May 2018

Eight human OPA1 isoforms, long and short: What are they for?

Biochim Biophys Acta Bioenerg 2018 Apr 31;1859(4):263-269. Epub 2018 Jan 31.

Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2018.01.005DOI Listing
April 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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http://dx.doi.org/10.1016/j.bbabio.2017.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5913658PMC
March 2018

Management of ophthalmologic manifestations of mitochondrial diseases.

Genet Med 2017 12 26;19(12). Epub 2017 Oct 26.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

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http://dx.doi.org/10.1038/gim.2017.171DOI Listing
December 2017

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

J Neuroophthalmol 2017 12;37(4):371-381

IRCCS Institute of Neurological Sciences of Bologna (VC, MC, CLM), Bellaria Hospital, Bologna, Italy; Unit of Neurology (VC, CLM), Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; Department of Neurology (IFdC), Erasmus Medical Center, Rotterdam, the Netherlands; Neuro-Ophthalmology Unit (AK), University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland; Department of Neurology (TK), Friedreich-Baur-Institute, Ludwing-Maximilians-University, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy) (TK), Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) (TK), Munich, Germany; Eye Center (WAL), Medical Center, Faculty of Medicine, University of Freiburg, Breisgau, Germany; Departments of Ophthalmology, Neurology and Neurological Surgery (NJN), Emory University School of Medicine, Atlanta, Georgia; Department of Ophthalmology (CO); Referral Center for Rare Diseases OPHTARA, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France; Department of Ophthalmology (JWRP), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Doheny Eye Institute (AAS), Los Angeles, California; Department of Ophthalmology (AAS), David Geffen School of Medicine at UCLA, Los Angeles, California; Department of Neuro-ophthalmology (JvE), The Rotterdam Eye Hospital, Rotterdam, the Netherlands; Rotterdam Ophthalmic Institute (ROI) (JvE), Rotterdam, the Netherlands; Fondation Ophtalmologique Adolphe de Rothschild (CV-C), Paris, France; School of Optometry and Vision Sciences (MV), Cardiff University, and Cardiff Eye Clinic, University Hospital of Wales, Cardiff, United Kingdom; Wellcome Trust Center for Mitochondrial Research (PY-W-M), Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom; Newcastle Eye Center (PY-W-M), Royal Victoria Infirmary, Newcastle Upon Tyne, United Kingdom; NIHR Biomedical Research Center at Moorfields Eye Hospital and UCL Institute of Ophthalmology (PY-W-M), London, United Kingdom; Department of Clinical Neurosciences (PY-W-M), School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom; Department of Ophthalmology (PB), San Raffaele Scientific Institute, Milan, Italy; and Studio Oculistico d'Azeglio (PB), Bologna, Italy.

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http://dx.doi.org/10.1097/WNO.0000000000000570DOI Listing
December 2017

Optic neuropathies: the tip of the neurodegeneration iceberg.

Hum Mol Genet 2017 10;26(R2):R139-R150

Doheny Eye Institute, Los Angeles, CA 90033, USA.

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http://dx.doi.org/10.1093/hmg/ddx273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886475PMC
October 2017

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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http://dx.doi.org/10.1016/j.mito.2017.07.004DOI Listing
September 2017

Retinal Ganglion Cells and Circadian Rhythms in Alzheimer's Disease, Parkinson's Disease, and Beyond.

Front Neurol 2017 4;8:162. Epub 2017 May 4.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

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http://dx.doi.org/10.3389/fneur.2017.00162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415575PMC
May 2017

The glutamate/cystine xCT antiporter antagonizes glutamine metabolism and reduces nutrient flexibility.

Nat Commun 2017 04 21;8:15074. Epub 2017 Apr 21.

Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California 91125, USA.

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http://dx.doi.org/10.1038/ncomms15074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413954PMC
April 2017

Melanopsin-expressing retinal ganglion cells are resistant to cell injury, but not always.

Mitochondrion 2017 09 12;36:77-84. Epub 2017 Apr 12.

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

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http://dx.doi.org/10.1016/j.mito.2017.04.003DOI Listing
September 2017

Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy.

Mitochondrion 2017 09 10;36:60-65. Epub 2017 Mar 10.

Studio Oculistico d'Azeglio, Piazza Galileo, 6, 40123 Bologna, Italy; Scientific Institute San Raffaele, Via Olgettina, 60 Milan, Italy.

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http://dx.doi.org/10.1016/j.mito.2017.03.002DOI Listing
September 2017

Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.

Mitochondrion 2017 05 2;34:101-102. Epub 2017 Mar 2.

Department of Surgical and Medical Sciences, University of Bologna, via Massarenti 9, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.02.006DOI Listing
May 2017

Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease.

Mov Disord 2017 03 2;32(3):346-363. Epub 2017 Mar 2.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

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http://dx.doi.org/10.1002/mds.26966DOI Listing
March 2017

Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series.

Ophthalmology 2017 06 10;124(6):843-850. Epub 2017 Feb 10.

Doheny Eye Institute, University of California Los Angeles, Los Angeles, California; Doheny Eye Center, Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2017.01.002DOI Listing
June 2017

A neurodegenerative perspective on mitochondrial optic neuropathies.

Acta Neuropathol 2016 12 30;132(6):789-806. Epub 2016 Sep 30.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

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http://dx.doi.org/10.1007/s00401-016-1625-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106504PMC
December 2016

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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http://dx.doi.org/10.1093/brain/aww052DOI Listing
June 2016

Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy.

Br J Ophthalmol 2016 09 27;100(9):1232-7. Epub 2015 Nov 27.

Studio Oculistico d'Azeglio, Bologna, Italy Scientific Institute San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1136/bjophthalmol-2015-307326DOI Listing
September 2016

Reactive Oxygen Species in Mitochondrial Optic Neuropathies: Comment.

J Neuroophthalmol 2015 Dec;35(4):445-6

Department of Ophthalmology, David Geffen School of Medicine, Doheny Eye Centers, UCLA, Los Angeles, California Doheny Eye Institute, Los Angeles, California Department of Neurological Sciences, University of Bologna, Bologna, Italy.

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http://pdfs.journals.lww.com/jneuro-ophthalmology/2015/12000
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WNO.0000000000000324DOI Listing
December 2015

Reply: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Brain 2016 Jan 23;139(Pt 1):e2. Epub 2015 Jul 23.

2 IRCCS Institute of Neurological Science of Bologna, Bellaria Hospital, Bologna, Italy 3 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1093/brain/awv217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990652PMC
January 2016

Keeping in shape the dogma of mitochondrial DNA maternal inheritance.

Authors:
Valerio Carelli

PLoS Genet 2015 May 14;11(5):e1005179. Epub 2015 May 14.

IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1371/journal.pgen.1005179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431736PMC
May 2015

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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http://dx.doi.org/10.3389/fgene.2015.00090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357308PMC
March 2015

Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathy.

Graefes Arch Clin Exp Ophthalmol 2015 Sep 17;253(9):1591-600. Epub 2015 Mar 17.

Neurophthalmology Unit, Fondazione G.B. Bietti- IRCCS, Via Livenza 3, 00198, Rome, Italy,

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http://dx.doi.org/10.1007/s00417-015-2979-1DOI Listing
September 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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http://dx.doi.org/10.1016/j.biocel.2015.01.023DOI Listing
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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http://dx.doi.org/10.1093/brain/awu378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339771PMC
March 2015

Mitochondrial DNA: impacting central and peripheral nervous systems.

Neuron 2014 Dec;84(6):1126-42

Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271190PMC
December 2014

Disturbed mitochondrial dynamics and neurodegenerative disorders.

Nat Rev Neurol 2015 Jan 9;11(1):11-24. Epub 2014 Dec 9.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/nrneurol.2014.228DOI Listing
January 2015

Medical management of hereditary optic neuropathies.

Front Neurol 2014 31;5:141. Epub 2014 Jul 31.

UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria , Bologna , Italy ; Unità di Neurologia, Dipartimento di Scienze Biomediche e NeuroMotorie (DIBINEM), Università di Bologna , Bologna , Italy.

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http://dx.doi.org/10.3389/fneur.2014.00141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117178PMC
August 2014

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Brain 2014 Aug 25;137(Pt 8):2164-77. Epub 2014 Jun 25.

3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1093/brain/awu165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107747PMC
August 2014

197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies: 26-28 April 2013, Naarden, The Netherlands.

Neuromuscul Disord 2014 Aug 21;24(8):736-42. Epub 2014 May 21.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK; Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966140013
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http://dx.doi.org/10.1016/j.nmd.2014.05.004DOI Listing
August 2014

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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http://dx.doi.org/10.1016/j.ajo.2014.05.034DOI Listing
September 2014