Personal data:
Date of birth: 3rd December 1977, Lanciano (CH), Italy
Nationality: Italian
Fiscal code: LMRCHR77T43E435I
Affiliations:
§ IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica,
Ospedale Bellaria, Via Altura 3, Bologna (BO)
§ Dipartimento di Scienze Biomediche e NeuroMotorie (DIBINEM)
Università di Bologna, Via Ugo Foscolo 7, 40123, Bologna
e-mail: chiaralamorgia@gmail.com; chiara.lamorgia@unibo.it [mailto:chiara.lamorgia@unibo.it]
“Ordine dei Medici di Bologna”, n.1472 (since 2002)
Education and training:
- 1996: High school degree, Liceo Classico “Vittorio Emanuele II”, 1996, final mark 60/60
- 2002: MD degree, University of Bologna, Italy. Final mark: 110/110 cum laudae. Thesis: “Neurological complications in bone marrow transplantation”
- 2003-2008: Residency in Neurology, Department of Neurological Sciences, University of Bologna, Italy. Final mark: 70/70 cum laudae. Thesis: “Circadian photoreception in hereditary optic neuropathies”
- 2009-2012: PhD in Sleep Medicine, Department of Neurological Sciences, University of Bologna, Italy. Thesis: “Melanopsin retinal ganglion cells: relevance to circadian rhythms and sleep in neurodegeneration”
- April 2014-September 2014: clinical fellowship in Neurophthalmology at the Doheny Eye Institute, University of Southern California (USC), now University of California Los Angeles (UCLA), Los Angeles, California, USA
Research experience:
- November 2005: granted as “Expert in Sleep Medicine” by the Italian Association of Sleep Medicine (AIMS)
- 2008-2014: Research fellowship at Doheny Eye Institute, University of Southern California, Los Angeles (California, USA) for collaborative project on “Neurodegenerative disorders and circadian photoreception” with attendance periods January 25th-February 9th 2008; August 23th-September 13th 2008; February 19th- March 4th 2009; February 21st-March 13th 2010; August 20th-September 10th 2010; August 28th-September 12th 2011; February 15th-March 2nd 2012; July 17th-August 5th 2013; May 10th-May 25th 2013; March 24th-October 3rd 2014)
- 2010-2019: member of the international team ‘Projeto LHON/Brazil’ for the study of a LHON Brazilian family with a project on “Melanopsin retinal ganglion cells and pupillary reflex in Leber’s hereditary optic neuropathy patients”
- 2006-2010: component of the research team on “Telethon project GGP06233”, titled: “Pathogenic mechanisms for degeneration of retinal ganglion cells in mitochondrial optic neuropathies”
- 2010-2013: component of the research team on “Telethon project, Program Project 2010”, titled “Therapeutic strategies to combat mitochondrial disorders”
- 2010-2014: component of the research project titled “Identification of predictive factors for conversion from mild cognitive impairment to dementia” (Fondazione Gino Galletti, Italy)
- 2012-2018: component of the research project titled “Emilia-Romagna region Program Project "Recognition, diagnosis and therapy of mitochondrial disorders in neurological services of the Emilia-Romagna region" (grant ER-MITO)
- January 2012-september 2015: research fellowship, project titled: “Function of melanopsin expressing retinal ganglion cells in neurological disorders and aging” Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Italy
- 2013-ongoing: member of the committee “Sleep and Neurodegenerative disorders”, Italian Society for Sleep Medicine (AIMS)
- July 2016-Nov 2020: PI of the research project titled “Melanopsin retinal ganglion cells and circadian rhythms: function and dysfunction in Alzheimer's disease and aging”– GR-2013-02358026 granted by the Italian Ministry of Health
- Dec 2016-ongoing: Member of the Scientific Board for the Association “International Foundation for Optic Nerve Disease” dal 6 Dicembre 2016
- Component of the reaserch team “PRIN 2017 prot. 20172T2MHH – “Keeping mitochondrial DNA in shape in health and disease: cracking the elusive relationship between the fusion protein OPA1, mitochondrial membrane lipid composition and maintenance of membrane-anchored mtDNA nucleoids” 2019, PI: Prof. Valerio Carelli
- March 2017-June 2018: component of the research team for the project titled “Studio multicentrico italiano dei geni implicati nel ritmo sonnoveglia e degli aplogruppi mitocondriali nella malattia di Alzheimer lieve-moderata e nel Mild Cognitive Impairment”, Coordinator Center: Azienda Ospedaliero-Universitaria Pisana, UOC Neurologia, Dr Enrica Bonanni
- August 2017-ongoing: Reviewer Editor for Frontiers in Neurology, “Neurophthalmology” section
- Dec 2017-Feb 2022: Co-PI for the research project GR-2016-02361449 granted by the Italian Ministry of Health titled “Italian Project on Hereditary Optic Neropathies (IPHON): from genetic basis to therapy”, PI: Prof. Valerio Carelli
- July 2018-2024: member of the Neurogenetic Panel, European Academy of Neurology (EAN)
- 2019-ongoing: Co-PI of the project granted by the Italian Ministry of Health RF-2018-12366703 “REtinal ganglion cells and ORganoids from Inherited Optic Neuropathies: light on pathogenesis to fight blindness (REORION Project)” 2019, coordinator (Prof. Valerio Carelli) - Italian Mininstry for Research
- Oct 2020-ongoing: part of the team for the research project “ENLIGHTENme- Innovative policies for improving citizens’ health and wellbeing addressing artificial lighting” - Horizon 2020 - Research and Innovation Framework Programme (Call: H2020-SC1-2020-Two-Stage-RTD Project: 945238 — ENLIGHTENme
- Nov 2022-ongoing: part of the research team for the project Partenariato Esteso “MNESYS – A Multiscale integrated approach to the study of the Nervous system in health and disease”, Spoke 6
- Member of the study group in Neurophthalmology and Neurogenetics of the Italian Neurology Association
- 09/24-ongoing: co-PI for the project PNRR-MR1-2023-12377223 “THERAPY4ALL-Towards therapies for mitochondrial diseases”
- 10/24-ongoing: part of the research team in the project “EPPERMED2024-360 - SEI-MITO”, finanziato nell’ambito della call Joint Transnational Call for Proposals (JTC) 2024 on "Identification or Validation of Targets for Personalised Medicine Approaches (PMTargets)", EP PerMed
- 2024-ongoing: member of the Management Group, Neurogenetic Panel, European Academy of Neurology (EAN)
- 12/24-ongoing: Associate Editor per la rivista Neuro-Ophthalmolog
- 2024-ongoing: member of the Working Group ERN-EYE
- 2024-ongoing: member of the coordinating team for rare diseases, Italian Society of Neurology
Professional experience:
- 2009-2012: clinical activity at the Neurologic Clinic Unit, Department of Neurological Sciences, University of Bologna (Day-Hospital, outpatient clinic and clinical ward)
- 2013-now: clinical activity at the Unit of Neurology, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy
- July 2011-May 2013: contract at the Department of Neurological Sciences, University of Bologna for the clinical trial sponsored by Sigma-Tau “Effects of l-acetylcarnitine on optic pathways neural conduction in Leber’s hereditary Optic neuropathy patients”
- October 2013-March 2014: contract at the USL Bologna on a project on “Prevention of road accidents during working hours”
- October 2015-October 2020: Research contract at the University of Bologna with integration of clinical activity at the IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria
- Nov 2020-21August 2022: Neurologist at IRCCS Institute of Neurological Sciences, Neurology Unit, Bologna
- 22 August 2022-ongoing: Senior Researcher at the University of Bologna, Department of Biomedical and Neuromotor Sciences and Neurologist at IRCCS Institute of Neurological Sciences, Neurology Unit, Bologna
- 2015-ongoing: Chief of the Neuro-ophthalmology Clinic, UOC Clinica Neurologica, Bellaria Hospital
Clinical trials:
- May 2016-now: study coordinator of the clinical trials Rescue (GS-LHON-CLIN-03A) and Reverse (GS-LHON-CLIN-03B) sponsored by Gensight on gene therapy in LHON patients (11778/ND4 mutation)
- July 2016-Sept 2021: investigator in the clinical trial “External Natural History Controlled, Open-Label Intervention Study to Assess the Efficacy and Safety of Long-Term Treatment with Raxone® in Leber’s Hereditary Optic Neuropathy (LHON)”- SNT-IV-005-LEROS, sponsored by Santhera Pharmaceuticals
- Dec 2017-July 2020: PI of the Reality-LHON Registry trial sponsored by Gensight
- Nov 2018-Jul 2022: investigator in the clinical trial GS-LHON-CLIN-06 (follow-up study) sponsored by Gensight on gene therapy in LHON patients (11778/ND4 mutation)
- Jan 2019-Jul 2021: investigator in the clinical trial “Post Authorisation Safety Study with Raxone in LHON Patients (PAROS)- SNT-IV-003, sponsored by Santhera Pharmaceuticals
- March 2019-ongoing: investigator in the clinical trial GS-LHON-CLIN-05 (Reflect Study) sponsored by Gensight on gene therapy in LHON patients (11778/ND4 mutation)
- Jul 2022-ongoing: Sub-I for REN001-201 clinical trial
- Sept 2022 PI for STK-002-OA-901 FALCON Study (site to be activated in Oct 2022)
- July 2023-ongoing: Sub-I for OMT28-C0203 clinical trial
AWARDS:
- “Progetto Giovani”, 2005, 2006, 2007, 2008, 2009, 2010 and 2012 granted by Italian Neurological Society
- “Progetto Giovani”, 2007 granted by Italian League against epilepsy
- Award for the best poster, Società Italiana di Neurologia, 2007, abstract titled: “Rare mtDNA variants in Leber’s hereditary optic neuropathy families with recurrence of myoclonus”
- Award for the best paper presentation, ‘Annual Meeting of the Italian Society of Neuropathology, 2009, abstract entitled “Melanopsin containing retinal ganglion cells are partially spared by neurodegeneration in Leber’s hereditary optic neuropathy”
- Award for the best poster, XI Congress of the European Biological Rhythms Society, 2009, Strasbourg, France, abstract entitled “Circadian Photoreception in Mitochondrial Optic Neuropathies: relative sparing of Melanopsin-Containing Retinal Ganglion Cells”
- Award “Franco Michele Puca” for the best contribution of a young scientist, XIX AIMS meeting, Bologna November 15-18th 2009, paper titled: “Circadian photoreception in hereditary optic neuropathies”
- Travel grant for the Association for Research in Vision and Ophthalmology (ARVO) meeting, 2-6th may 2010, Fort Lauderdale, Miami
- Award for the best oral presentation at the XLV Congresso AINP e XXXV AIRIC, Bologna, 3-6 Giugno 2010, with the paper “Melanopsin containing retinal ganglion cells are partially spared by neurodegeneration in Leber’s hereditary optic neuropathy”
- International Scholarship Award for the paper titled: “Idebenone treatment in Leber’s hereditary optic neuropathy” at the 63rd AAN annual meeting, Hawaii, 9th-16th April 2011
- “Stockgrand Travel Award Grant”, XII Congress of European Biological Rhythms Society Meeting”, Oxford, 20-26th August 2011
- Award at the young investigator symposium “New tendencies in sleep medicine”, XXI Congresso Nazionale AIMS, Pavia, October 2-5th 2011
- Selected by “Magnifico Rettore” (Prof. Ivano Dionigi) of the University of Bologna for a speech at the opening ceremony, Academic Year 2012-2013
- “Marco Polo Programme” grant winner supporting a 6-months period in the USA with a research project on “Melanopsin retinal ganglion cells in neurodegenerative disorders and aging”, march 2014-september 2014
PUBLICATIONS:
1) La Morgia C, Mondini S, Guarino M, Bonifazi F, Cirignotta F. “Busulfan neurotoxicity: a case report”. Neurol Sci 2004; 25(2):95-97. [IF 2004: 1.059]
2) Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F, Carta A, Carbonelli M, Sadun A, and Carelli V. Leber's hereditary optic neuropathy with childhood onset. Invest Ophthalmol Vis Sci 2006;47(12):5303-5309. [IF 2006: 3.766]
3) Vetrugno R, La Morgia C, D'Angelo R, Loi D, Provini F, Plazzi G, Montagna P. Augmentation of restless legs syndrome with long-term tramadol treatment. Mov Disord 2007;22(3):424-427. [IF 2007: 3.207]
4) Carelli V, Franceschini F, Venturi S, Barboni P, Savini G, Barbieri G, Pirro E, La Morgia C, Valentino ML, Zanardi F, Violante FS, Mattioli S. Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy? Environ Health Perspect 2007;115(1):113-115. [IF 2007: 5.636]
5) Carelli V, La Morgia C, Iommarini L, Carroccia R, Mattiazzi M, Sangiorgi S, Farnè S, Maresca A, Foscarini B, Lanzi L, Amadori M, Bellan M, Valentino ML. Mitochondrial optic neuropathies: how two genomes may kill the same cell type? Biosci Rep 2007;27(1-3):173-184. [IF 2007: 3.115]
6) Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Man PY, de Coo RF, Horvath R,Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 2007;81(2):228-233. [IF 2007: 11.092]
7) Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008;131(Pt 2):338-351. [IF 2008: 9.603]
8) La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology 2008;70(10):762-770. [IF 2008: 7.043]
9) La Morgia C, Parchi P, Capellari S, Lodi R, Tonon C, Rinaldi R, Mondini S, Cirignotta F 'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2. J Neurol Neurosurg Psychiatry 2009;80(2):244-6. [IF 2009: 4.869]
10) Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Retinal ganglion cells neurodegeneration in mitochondrial inherited disorders. Biochim Biophys Acta 2009;1787(5):518-28. [IF 2009: 3.688]
11) Vetrugno R, Valentino ML, La Morgia C, Liguori R, Stecchi S, Mascalchi M, Fabbri M, Montagna P, Carelli V. Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). Sleep Med 2010;11(4):426-7. [IF 2011: 3.430]
12) Cevoli S, Pallotti F, La Morgia C, Valentino ML, Pierangeli G, Cortelli P, Baruzzi A, Montagna P, Carelli V. High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. Cephalalgia 2010;30(8):919-27. [IF 2010: 4.265]
13) La Morgia C, Ross-Cisneros FN, Sadun AA, Hannibal J, Munarini A, Mantovani V, Barboni P, Cantalupo G, Tozer KR, Sancisi E, Salomao SR, Moraes MN, Moraes-Filho MN, Heegaard S, Milea D, Kjer P, Montagna P, Carelli V. Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies. Brain 2010;133(Pt 8):2426-38. [IF 2010: 9.232]
14) La Morgia C, Ross-Cisneros FN, Hannibal J, Montagna P, Sadun AA, Carelli V. Melanopsin-expressing retinal ganglion cells: implications for human diseases. Vision Res 2011 Jan 28;51(2):296-302. [IF 2011: 2.414]
15) Lodi R, Tonon C, Valentino ML, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B, Carelli V. Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations. Arch Neurol 2011 Jan;68(1):67-73. [IF 2011: 7.584]
16) Sadun AA, La Morgia C, Carelli V. Leber's Hereditary Optic Neuropathy. Curr Treat Options Neurol 2011 Feb;13(1):109-17. [IF 2011: 1.292]
17) Bonazza S, La Morgia C, Martinelli P, Capellari S. Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients. Neurol Sci 2011 Aug;32(4):537-45. [IF 2011: 1.315]
18) Barboni P, Savini G, Parisi V, Carbonelli M, La Morgia C, Maresca A, Sadun F, De Negri AM, Carta A, Sadun AA, Carelli V. Retinal Nerve Fiber Layer Thickness in Dominant Optic Atrophy Measurements by Optical Coherence Tomography and Correlation with Age. Ophthalmology 2011 Oct;118(10):2076-80 [IF 2011: 5.454]
19) Licchetta L, Bisulli F, Di Vito L, La Morgia C, Naldi I, Volta U, Tinuper P. Epilepsy in coeliac disease: not just a matter of calcifications. Neurol Sci 2011 Dec;32(6):1069-74 [IF 2011: 1.315]
20) Carelli V, La Morgia C, Valentino ML, Rizzo G, Carbonelli M, De Negri AM, Sadun F, Carta A, Guerriero S, Simonelli F, Sadun AA, Aggarwal D, Liguori R, Avoni P, Baruzzi A, Zeviani M, Montagna P, Barboni P. Idebenone Treatment In Leber's Hereditary Optic Neuropathy. Brain 2011 Sep;134(Pt 9):e188 [IF 2011: 9.457]
21) Achilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P, La Morgia C, Valentino ML, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AM, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A, Carelli V. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One 2012;7(8):e42242. [IF 2011: 3.730]
22) Rizzo G, Tozer KR, Tonon C, Manners D, Testa C, Malucelli E, Valentino ML, La Morgia C, Barboni P, Randhawa RS, Ross-Cisneros FN, Sadun AA, Carelli V, Lodi R. Secondary Post-Geniculate Involvement in Leber's Hereditary Optic Neuropathy. PLoS One 2012;7(11):e50230. [IF 2012: 3.730]
23) Sadun AA, La Morgia C, Carelli V. Leber’s hereditary optic neuropathy: new quinone therapies change the paradigm. Expert Rev Ophthalmol 2012; 7(3): 251–259
24) La Morgia C, Barboni P, Rizzo G, Carbonelli M, Savini G, Scaglione C, Capellari S, Bonazza S, Giannoccaro MP, Calandra-Buonaura G, Liguori R, Cortelli P, Martinelli P, Baruzzi A, Carelli V. Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? Eur J Neurol 2013, 20: 198–201 [IF 2013: 3.692]
25) Maresca A, La Morgia C, Caporali L, Valentino ML, Carelli V. The optic nerve: A "mito-window" on mitochondrial neurodegeneration. Mol Cell Neurosci 2013 Jul;55:62-76 [IF 2013: 3.734]
26) Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V. Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. Biochim Biophys Acta 2013 Mar; 1832 (3):445-52. [IF 2013: 5.089]
27) Carelli V, La Morgia C, Sadun AA. Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options. Curr Opin Neurol 2013 Feb; 26 (1):52–58 [IF 2013:5.729]
28) Barboni P, Valentino ML, La Morgia C, Carbonelli M, Savini G, De Negri A, Simonelli F, Sadun F, Caporali L, Maresca A, Liguori R, Baruzzi A, Zeviani M and Carelli V. Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain 2013 Feb;136(Pt 2):e231. [IF 2013: 10.226]
29) Barboni P, Carelli V, Savini G, Carbonelli M, La Morgia C, Sadun AA. Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration. Brain 2013 Jul;136(Pt 7):e239. [IF 2013: 10.226]
30) Sadun AA, La Morgia C, Carelli V. Mitochondrial optic neuropathies: our travels from bench to bedside and back again An expansion of the 35(th) Susan Alper Memorial lecture by Alfredo A. Sadun, MD, PhD given at the Washington Hospital Medical Center on April 28, 2012. Clin Experiment Ophthalmol 2013 Sep-Oct; 41(7):702-712 [IF 2013: 1.953]
31) Moura AL, Nagy BV, La Morgia C, Barboni P, Oliveira AG, Salomão SR, Berezovsky A, de Moraes-Filho MN, Chicani CF, Belfort R Jr, Carelli V, Sadun AA, Hood DC, Ventura DF. The Pupil Light Reflex in Leber's Hereditary Optic Neuropathy: Evidence for Preservation of Melanopsin-Expressing Retinal Ganglion Cells. Invest Ophthalmol Vis Sci 2013 Jul 2;54(7):4471-7. [IF 2013: 3.661]
32) Ziccardi L, Sadun F, De Negri AM, Barboni P,5, Savini G, Borrelli E, La Morgia C, Carelli V, Parisi V. Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2013, Oct 21;54(10):6893-901 [IF 2013: 3.661]
33) Sadun AA, La Morgia C, Carelli V. Mitochondrial optic neuropathies: additional facts and concepts - response. Clin Experiment Ophthalmol 2014 Mar; 42(2):207-8 [IF 2014: 2.347]
34) Guaraldi P, Sancisi E, La Morgia C, Calandra-Buonaura G, Carelli V, Cameli O, Battistini A, Cortelli P, Piperno R. Nocturnal melatonin regulation in post-traumatic vegetative state: a possible role for melatonin supplementation? Chronobiol International 2014 Jun;31(5):741-5 [IF 2014: 3.343]
35) Kaveh Moghadam K, Pizza F, Tonon C, Lodi R, Carelli V, Poli F, Franceschini C, Barboni P, Seri M, Ferrari S, La Morgia C, Testa C, Cornelio F, Liguori R, Winkelmann J, Lin L, Mignot E, Plazzi G. Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. Sleep Medicine 2014 May; 15(5):582-5 [IF 2014:3.154]
36) Kaveh Moghadam K, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G. Narcolepsy is a common phenotype in both HSAN IE and ADCA-DN. Brain 2014 Jun; 137(Pt 6):1634-55 [IF 2014: 9.196]
37) Carossa V, Ghelli A, Tropeano CV, Valentino ML, Iommarini L, Maresca A, Caporali L, La Morgia C, Liguori R, Barboni P, Carbonelli M, Rizzo G, Tonon C, Lodi R, Martinuzzi A, De Nardo V, Rugolo M, Ferretti L, Gandini F, Pala M, Achilli A, Olivieri A, Torroni A, Carelli V. A Novel in-Frame 18-bp Microdeletion in MT-CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance. Hum Mutat. 2014 Aug;35(8):954-8 [IF 2014: 5.144]
38) La Morgia C, Caporali L, Gandini F, Olivieri A, Toni F, Nassetti S, Brunetto D, Stipa C, Scaduto C, Parmeggiani A, Tonon C, Lodi R, Torroni A, Carelli V. Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. BMC Neurol. 2014 May 28;14:116. [IF 2014: 2.040]
39) Barboni P, Savini G, Cascavilla ML, Caporali L, Milesi J, Borrelli E, La Morgia C, Valentino ML, Triolo G, Lembo A, Carta A, De Negri A, Sadun F, Rizzo G, Parisi V, Pierro L, Bianchi Marzoli S, Zeviani M, Sadun AA, Bandello F, Carelli V. Early Macular Retinal Ganglion Cell Loss in Dominant Optic Atrophy: Genotype-Phenotype Correlation. Am J Ophthalmol. 2014 Sep; 158(3):628-636 [IF 2014: 3.871]
40) La Morgia C, Carbonelli M, Barboni P, Sadun AA, Carelli V. Medical management of hereditary optic neuropathies. Front Neurol. 2014 Jul 31;5:141 [IF 2015: 3.184].
41) Maresca A, Caporali L, Strobbe D, Zanna C, Malavolta D, La Morgia C, Valentino ML, Carelli V. Genetic Basis of Mitochondrial Optic Neuropathies. Curr Mol Med. 2014;14(8):985-992. [IF 2014: 3.621]
42) Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E. 'Behr syndrome' with OPA1 compound heterozygote mutations. Brain 2015 Jan;138(Pt 1):e321. [IF 2015: 10.103]
43) Santarelli R, Rossi R, Scimemi P, Cama E, Valentino ML, La Morgia C, Caporali L, Liguori R, Magnavita V, Monteleone A, Biscaro A, Arslan E, Carelli V. OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. Brain 2015 Mar;138(Pt 3):563-76. [IF 2015: 10.103]
44) Ziccardi L, Parisi V, Giannini D, Sadun F, De Negri AM, Barboni P, La Morgia C, Sadun AA, Carelli V. 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 Mar 17. [Epub ahead of print] [IF 2015: 1.991]
45) Manners DN, Rizzo G, La Morgia C, Tonon C, Testa C, Barboni P, Malucelli E, Valentino ML, Caporali L, Strobbe D, Carelli V, Lodi R. Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies. AJNR Am J Neuroradiol 2015 Jul;36(7):1259-65 [IF 2015: 3.124]
46) Baiardi S, La Morgia C, Mondini S, Cirignotta F. A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome. BMJ Case Rep 2015 Mar 27;2015.
47) Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A, Zeviani M. Syndromic parkinsonism and dementia associated with OPA1 missense mutations. Ann Neurol 2015 Jul; 78(1):21-38 [IF 2015: 9.638]
48) Carbonelli M, La Morgia C, Savini G, Cascavilla ML, Borrelli E, Chicani F, do V F Ramos C, Salomao SR, Parisi V, Sebag J, Bandello F, Sadun AA, Carelli V, Barboni P. Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements. PLoS One. 2015 Jun 5;10(6):e0127906. [IF 2015: 3.057]
49) Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N , Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV , Tao F, Speziani F, Abreu L, Caporali L, La Morgia C, Maresca A, Liguori R. Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA , Peng Y, Prada CE, Prows CA, Bove K, Schorry EK, Antonellis A, Zimmerman HH, Abdulrahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Nemeth AH, Carelli V, Huang T, Zuchner S, Dallman JE. Recessive mutations in SLC25A46 are associated with an optic atrophy “plus” phenotypic spectrum: characterization of an UGO1-like protein. Nat Genet. 2015 Aug;47(8):926-32. [IF 2015: 31.616]
50) Giordano L, Deceglie S, d'Adamo P, Valentino ML, La Morgia C, Fracasso F, Roberti M, Cappellari M, Petrosillo G, Ciaravolo S, Parente D, Giordano C, Maresca A, Iommarini L, Del Dotto V, Ghelli AM, Salomao SR, Berezovsky A, Belfort R Jr, Sadun AA, Carelli V, Loguercio Polosa P, Cantatore P. Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways. Cell Death Dis. 2015 Dec 17;6:e2021. [IF 2015: 5.378]
51) La Morgia C, Ross-Cisneros FN, Koronyo Y, Hannibal J, Gallassi R, Cantalupo G, Sambati L, Pan BX, Tozer KR, Barboni P, Provini F, Avanzini P, Carbonelli M, Pelosi A, Chui H, Liguori R, Baruzzi A, Koronyo-Hamaoui M, Sadun AA, Carelli V. Melanopsin retinal ganglion cell loss in Alzheimer's disease. Ann Neurol. 2016 Jan;79(1):90-109. [IF 2016: 9.890]
52) Balducci N, Savini G, Cascavilla ML, La Morgia C, Triolo G, Giglio R,Carbonelli M, Parisi V, Sadun AA, Bandello F, Carelli V, Barboni P. Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy. Br J Ophthalmol. 2016 Sep;100(9):1232-7. [IF 2016: 3.806]
53) Carelli V, d'Adamo P, Valentino ML, La Morgia C, Ross-Cisneros FN, Caporali L, Maresca A, Loguercio Polosa P, Barboni P, De Negri A, Sadun F, Karanjia R, Salomao SR, Berezovsky A, Chicani F, Moraes M, Moraes Filho M, Belfort R Jr, Sadun AA. Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. Brain. 2016 Mar;139(Pt 3):e17. [IF 2016: 10.292]
54) Barboni P, Savini G, Carelli V, Balducci N, La Morgia C, Bandello F, Sadun AA. Re: Pilat et al.: High-resolution imaging of the optic nerve and retina in optic nerve hypoplasia (Ophthalmology 2015;122:1330-9). Ophthalmology. 2016 Mar;123(3):e19-20. [IF 2016: 8.204]
55) Santarelli R, Cama E, Scimemi P, La Morgia C, Caporali L, Valentino ML, Liguori R, Carelli V. Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction. Brain. 2016 Jun;139(Pt6):e34. [IF 2016: 10.292]
56) Yu-Wai-Man P, Votruba M, Burté F, La Morgia C, Barboni P, Carelli V. A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathol. 2016 Dec;132(6):789-806 [IF 2016: 12.213]
57) Borrelli E, Triolo G, Cascavilla ML, La Morgia C, Rizzo G, Savini G, Balducci N, Nucci P, Giglio R, Darvizeh F, Parisi V, Bandello F, Sadun AA, Carelli V, Barboni P. Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy. Sci Rep. 2016 Nov 17;6:37332. [IF 2016: 4.259]
58) Georg B, Ghelli A, Giordano C, Ross-Cisneros FN, Sadun AA, Carelli V, Hannibal J, La Morgia C. Melanopsin-expressing retinal ganglion cells are resistant to cell injury, but not always. Mitochondrion. 2017 Apr 12. pii:S1567-7249(17)30087-9. [IF 2017: 3.226]
59) Pisani F, Pavlidis E, Facini C, La Morgia C, Fusco C, Cantalupo G. A 15-year epileptogenic period after perinatal brain injury. Funct Neurol. 2017 Jan/Mar;32(1):49-53. [IF 2017: 1.855]
60) Balducci N, Ciardella A, Gattegna R, Zhou Q, Cascavilla ML, La Morgia C, Savini G, Parisi V, Bandello F, Carelli V, Barboni P. Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy. Mitochondrion. 2017 Mar 10. pii: S1567-7249(17)30061-2. [IF 2017: 3.226]
61) Hwang TJ, Karanjia R, Moraes-Filho MN, Gale J, Tran JS, Chu ER, Salomao SR, Berezovsky A, Belfort R Jr, Moraes MN, Sadun F, DeNegri AM, La Morgia C, Barboni P, Ramos CD, Chicani CF, Quiros PA, Carelli V, Sadun AA. Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series. Ophthalmology. 2017 Feb 10. pii: S0161-6420(16)30848-X. [IF 2017: 7.479]
62) La Morgia C, Ross-Cisneros FN, Sadun AA, Carelli V. Retinal Ganglion Cells and Circadian Rhythms in Alzheimer's Disease, Parkinson's Disease, and Beyond. Front Neurol. 2017 May 4;8:162. [IF 2017: 3.508]
63) Giannoccaro MP, La Morgia C, Rizzo G, Carelli V. Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease. Mov Disord. 2017 Mar;32(3):346-363. [IF 2017: 8.324]
64) Caporali L, Maresca A, Capristo M, Del Dotto V, Tagliavini F, Valentino ML, La Morgia C, Carelli V. Incomplete penetrance in mitochondrial optic neuropathies. Mitochondrion. 2017 Jul 14. pii: S1567-7249(17)30207-6. [IF 2017: 3.226]
65) Karanjia R, Berezovsky A, Sacai PY, Cavascan NN, Liu HY, Nazarali S, Moraes-Filho MN, Anderson K, Tran JS, Watanabe SE, Moraes MN, Sadun F, DeNegri AM, Barboni P, do Val Ferreira Ramos C, La Morgia C, Carelli V, Belfort R Jr, Coupland SG, Salomao SR, Sadun AA. The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy. Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO300-BIO306. [IF 2017: 3.388]
66) Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P. International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy. J Neuroophthalmol. 2017 Dec;37(4):371-381. [IF 2017: 2.509]
67) Carelli V, La Morgia C, Ross-Cisneros FN, Sadun AA. Optic neuropathies: the tip of the neurodegeneration iceberg. Hum Mol Genet. 2017 Oct 1;26(R2):R139-R150. [IF 2017: 4.902]
68) La Morgia C, Di Vito L, Carelli V, Carbonelli M. Patterns of Retinal Ganglion Cell Damage in Neurodegenerative Disorders: Parvocellular vs Magnocellular Degeneration in Optical Coherence Tomography Studies. Front Neurol. 2017 Dec 22;8:710. [IF 2017: 3.508]
69) Caporali L, Bello L, Tagliavini F, La Morgia C, Maresca A, Di Vito L, Liguori R, Valentino ML, Cecchin D, Pegoraro E, Carelli V. DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions. Brain. 2018 Jan 1;141(1):e3. [IF 2018: 11.814]
70) Baiardi S, La Morgia C, Sciamanna L, Gerosa A, Cirignotta F, Mondini S. Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers? Accid Anal Prev. 2018 Jan;110:187-189. [IF 2018: 3.058]
71) Balducci N, Cascavilla ML, Ciardella A, La Morgia C, Triolo G, Parisi V, Bandello F, Sadun AA, Carelli V, Barboni P. Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker. Clin Exp Ophthalmol. 2018 Dec;46(9):1055-1062 [IF 2018: 3.411]
72) Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A,Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V. Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy. PLoS Genet. 2018 Feb14;14(2):e1007210 [IF 2018: 5.224]
73) Favoni V, Pierangeli G, Toni F, Cirillo L, La Morgia C, Abu-Rumeileh S, Messia M, Agati R, Cortelli P, Cevoli S. Idiopathic Intracranial Hypertension Without Papilledema (IIHWOP) in Chronic Refractory Headache. Front in Neurol 2018; 9:503. [IF 2018: 2.635]
74) Carelli V, La Morgia C. Clinical syndromes associated with mtDNA mutations: where we stand after 30 years. Essays Biochem. 2018 Jul 20;62(3):235-254. [IF 2018: 4.845]
75) Adams JL, La Morgia C. The search for Parkinson disease biomarkers: Retinal thinning as a correlate of dopamine loss. Neurology. 2018 Sep 11;91(11):493-494. [IF 2018: 8.689]
76) Del Dotto V, Fogazza M, Musiani F, Maresca A, Aleo SJ, Caporali L, La Morgia C, Nolli C, Lodi T, Goffrini P, Chan D, Carelli V, Rugolo M, Baruffini E, Zanna C. Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models. Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3496-3514. [IF 2018: 4.328]
77) Mitolo M, Tonon C, La Morgia C, Testa C, Carelli V, Lodi R. Effects of Light Treatment on Sleep, Cognition, Mood, and Behavior in Alzheimer's Disease: A Systematic Review. Dement Geriatr Cogn Disord. 2018 Dec 11;46(5-6):371-384. [IF 2018: 2.260]
78) La Morgia C, Carelli V, Carbonelli M. Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology. Front Neurol. 2018 Dec 7;9:1047. [IF 2018: 2.635]
79) Parisi V, Ziccardi L, Sadun F, De Negri AM, La Morgia C, Barbano L, Carelli V, Barboni P. 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 Jul;126(7):1033-1044. [IF 2019: 8.470]
80) La Morgia C, Caporali L, Tagliavini F, Palombo F, Carbonelli M, Liguori R, Barboni P, Carelli V. First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness. Neurol Genet. 2019 Apr 8;5(3):e329. [IF 2020:3.845]
81) Santarelli R, La Morgia C, Valentino ML, Barboni P, Monteleone A, Scimemi P, Carelli V. Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy. Front Neurosci. 2019 May 28;13:501. [IF 2019: 3.707]
82) Oh AJ, Amore G, Sultan W, Asanad S, Park JC, Romagnoli M, La Morgia C, Karanjia R, Harrington MG, Sadun AA. Pupillometry evaluation of melanopsin retinal ganglion cell function and sleep-wake activity in pre-symptomatic Alzheimer's disease. PLoS One. 2019 Dec 10;14(12):e0226197. [IF 2019: 2.740]
83) Vacchiano V, Tonon C, Mitolo M, Evangelisti S, Carbonelli M, Liguori R, Lodi R, Carelli V, La Morgia C. Functional MRI study in a case of Charles Bonnet syndrome related to LHON. BMC Neurol. 2019 Dec 30;19(1):350 [IF 2019: 2.356]
84) Favoni V, Pierangeli G, Cirillo L, Toni F, Abu-Rumeileh S, La Morgia C, MessiaM, Agati R, Cortelli P, Cevoli S. Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study. Front Neurol. 2019 Dec 12;10:1287. [IF 2019: 2.889]
85) Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. J Clin Invest. 2020 Jan 2;130(1):108-125. [IF 2020: 14.808]
86) Ticci C, Sicca F, Ardissone A, Bertini E, Carelli V, Diodato D, Di Vito L, Filosto M, La Morgia C, Lamperti C, Martinelli D, Moroni I, Musumeci O, Orsucci D, Pancheri E, Peverelli L, Primiano G, Rubegni A, Servidei S, Siciliano G, Simoncini C, Tonin P, Toscano A, Mancuso M, Santorelli FM. Mitochondrial epilepsy: a cross-sectional nationwide Italian survey. Neurogenetics. 2020 2020 Apr;21(2):87-96. [IF 2020: 2.660]
87) Postiglione E, Antelmi E, Pizza F, Rpsgt SV, La Morgia C, Carelli V, Nassetti S, Seri M, Plazzi G. Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation. J Clin Sleep Med. 2020 Jan 15;16(1):143-147. [IF 2020: 4.062]
88) Maresca A, Del Dotto V, Capristo M, Scimonelli E, Tagliavini F, Morandi L, Tropeano CV, Caporali L, Mohamed S, Roberti M, Scandiffio L, Zaffagnini M, Rossi J, Cappelletti M, Musiani F, Contin M, Riva R, Liguori R, Pizza F, La Morgia C, Antelmi E, Polosa PL, Mignot E, Zanna C, Plazzi G, Carelli V. DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
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89) La Morgia C, Maresca A, Amore G, Gramegna LL, Carbonelli M, Scimonelli E, Danese A, Patergnani S, Caporali L, Tagliavini F, Del Dotto V, Capristo M, Sadun F, Barboni P, Savini G, Evangelisti S, Bianchini C, Valentino ML, Liguori R, Tonon C, Giorgi C, Pinton P, Lodi R, Carelli V. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome. Sci Rep. 2020 Mar 16;10(1):4785 [IF 2020: 4.379]
90) Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Bianchi Marzoli S, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F. ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy. Ann Neurol. 2020 Jul;88(1):18-32. [IF 2020:10.422]
91) Romagnoli M, La Morgia C, Carbonelli M, Di Vito L, Amore G, Zenesini C, Cascavilla ML, Barboni P, Carelli V. Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy. Ann Clin Transl Neurol. 2020 Apr;7(4):590-594. [IF 2020: 4.511]
92) Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier MB, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng CY, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group. Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs. N Engl J Med. 2020 Apr 30;382(18):1687-1695. [IF 2020: 91.245]
93) La Morgia C, Maresca A, Caporali L, Valentino ML, Carelli V. Mitochondrial diseases in adults. Journal of Internal Medicine. 2020 Jun;287(6):592-608 [IF 2020: 8.989]
94) Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, Votruba M, Jurkute N, Yu-Wai-Man P, Tagliavini F, Caporali L, La Morgia C, Carelli C, Procaccio V, Zanlonghi X, Meunier I, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. Neurol Genet May 2020 20;6(3):e428 [IF 2020: 3.845]
95) Biousse V, Newman NJ, Najjar RP, Vasseneix C, Xu X, Ting DS, Milea LB, Hwang JM, Kim DH, Yang HK, Hamann S, Chen JJ, Liu Y, Wong TY, Milea D; BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) Group. Optic disc classification by deep learning versus expert neuro-ophthalmologists. Ann Neurol. 2020 Jul 3. [IF 2020: 10.422]
96) Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East. Hum Genet. 2020 Jun 2. [IF 2020: 4.132]
97) Romagnoli M, Stanzani Maserati M, De Matteis M, Capellari S, Carbonelli M, Amore G, Cantalupo G, Zenesini C, Liguori R, Sadun AA, Carelli V, Park JC, La Morgia C. Chromatic Pupillometry Findings in Alzheimer's Disease. Front Neurosci. 2020 Aug 11;14:780. [IF 2020: 4.677]
98) Maresca A, Del Dotto V, Romagnoli M, La Morgia C, Di Vito L, Capristo M, Valentino ML, Carelli V, ER-MITO Study Group. Expanding and validating the biomarkers for mitochondrial diseases. J Mol Med (Berl). 2020;10.1007/s00109-020-01967-y. [IF 2020: 4.599]
99) Guarnieri B, Maestri M, Cucchiara F, Lo Gerfo A, Schirru A, Arnaldi D, Mattioli P, Nobili F, Lombardi G, Cerroni G, Bartoli A, Manni R, Sinforiani E, Terzaghi M, Arena MG, Silvestri R, La Morgia C, Di Perri MC, Franzoni F, Tognoni G, Mancuso M, Sorbi S, Bonuccelli U, Siciliano G, Faraguna U, Bonanni E. Multicenter Study on Sleep and Circadian Alterations as Objective Markers of Mild Cognitive Impairment and Alzheimer's Disease Reveals Sex Differences. J Alzheimers Dis. 2020;78(4):1707-1719 [IF 2020: 4.474]
100) Snyder PJ, Alber J, Alt C, Bain LJ, Bouma BE, Bouwman FH, DeBuc DC, Campbell MCW, Carrillo MC, Chew EY, Cordeiro MF, Dueñas MR, Fernández BM, Koronyo-Hamaoui M, La Morgia C, Carare RO, Sadda SR, van Wijngaarden P, Snyder HM. Retinal imaging in Alzheimer's and neurodegenerative diseases. Alzheimers Dement. 2021 Jan;17(1):103-111 [IF 2020: 21.566]
101) Rajabian F, Manitto MP, Palombo F, Caporali L, Grazioli A, Starace V, Arrigo A, Cascavilla ML, La Morgia C, Barboni P, Bandello F, Carelli V, Battaglia Parodi M. Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype. J Neuroophthalmol. 2021 Sep 1;41(3):e290-e292 [IF 2020: 2.513].
102) Amore G, Romagnoli M, Carbonelli M, Barboni P, Carelli V, La Morgia C. Therapeutic Options in Hereditary Optic Neuropathies. Drugs. 2021 Jan;81(1):57-86. [IF 2020: 9.546]
103) Yu-Wai-Man P, Newman NJ, Carelli V, Moster ML, Biousse V, Sadun AA, Klopstock T, Vignal-Clermont C, Sergott RC, Rudolph G, La Morgia C, Karanjia R, Taiel M, Blouin L, Burguière P, Smits G, Chevalier C, Masonson H, Salermo Y, Katz B, Picaud S, Calkins DJ, Sahel JA. Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy. Sci Transl Med. 2020 Dec 9;12(573):eaaz7423 [IF 2020: 17.956]
104) Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group. Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset. Ophthalmology. 2021 May;128(5):649-660. [IF 2020: 12.079]
105) Stenton SL, Sheremet NL, Catarino CB, Andreeva N, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov IO, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova T, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna T, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova E, Zhorzholadze N, Rozet JM, Carelli V, Tsygankova P, Klopstock T, Wittig I, Prokisch H. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 2021 Mar 15;131(6):e138267 [IF 2020: 14.808]
106) Licchetta L, Ferri L, La Morgia C, Zenesini C, Caporali L, Lucia Valentino M, Minardi R, Fulitano D, Di Vito L, Mostacci B, Alvisi L, Avoni P, Liguori R, Tinuper P, Bisulli F, Carelli V. Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy. Ann Clin Transl Neurol. 2021 Mar;8(3):704-710 [IF 2020: 4.511]
107) Evangelisti S, La Morgia C, Testa C, Manners DN, Brizi L, Bianchini C, Carbonelli M, Barboni P, Sadun AA, Tonon C, Carelli V, Vandewalle G, Lodi R. Brain functional MRI responses to blue light stimulation in Leber's Hereditary Optic Neuropathy. Biochem Pharmacol. 2021 Sep;191:114488 [IF 2020: 5.858]
108) Gramegna LL, Evangelisti S, Di Vito L, La Morgia C, Maresca A, Caporali L, Amore G, Talozzi L, Bianchini C, Testa C, Manners DN, Cortesi I, Valentino ML, Liguori R, Carelli V, Tonon C, Lodi R. Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations. Ann Clin Transl Neurol. 2021 Jun;8(6):1200-1211. [IF 2020: 4.511]
109) Yu-Wai-Man P, Newman NJ, Carelli V, La Morgia C, Biousse V, Bandello FM, Clermont CV, Campillo LC, Leruez S, Moster ML, Cestari DM, Foroozan R, Sadun A, Karanjia R, Jurkute N, Blouin L, Taiel M, Sahel JA; LHON REALITY Study Group. Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study. Eye (Lond). 2021 Apr 28 Epub ahed of print. [IF 2020: 3.775]
110) Ticci C, Orsucci D, Ardissone A, Bello L, Bertini E, Bonato I, Bruno C, Carelli V, Diodato D, Doccini S, Donati MA, Dosi C, Filosto M, Fiorillo C, La Morgia C, Lamperti C, Marchet S, Martinelli D, Minetti C, Moggio M, Mongini TE, Montano V, Moroni I, Musumeci O, Pancheri E, Pegoraro E, Primiano G, Procopio E, Rubegni A, Scalise R, Sciacco M, Servidei S, Siciliano G, Simoncini C, Tolomeo D, Tonin P, Toscano A, Tubili F, Mancuso M, Battini R, Santorelli FM. Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases. J Clin Med. 2021 May 12;10(10):2063. [IF 2020: 4.241]
111) Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, La Morgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group, Lenaers G. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Brain Commun. 2021 Apr 7;3(2):fcab063
112) Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison. Front Neurol. 2021 May 24;12:662838 [IF 2020: 4.003]
113) Mancuso M, La Morgia C, Valentino ML, Ardissone A, Lamperti C, Procopio E, Garone C, Siciliano G, Musumeci O, Toscano A, Primiano G, Servidei S, Carelli V. SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy. Mitochondrion. 2021 May;58:243-245. [IF 2020: 4.160]
114) Peverelli L, Catania A, Marchet S, Ciasca P, Cammarata G, Melzi L, Bellino A, Fancellu R, Lamantea E, Capristo M, Caporali L, La Morgia C, Carelli V, Ghezzi D, Bianchi Marzoli S, Lamperti C. Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants. Front Neurol. 2021 Jun 9;12:657317. [IF 2020: 4.003]
115) Montano V, Orsucci D, Carelli V, La Morgia C, Valentino ML, Lamperti C, Marchet S, Musumeci O, Toscano A, Primiano G, Santorelli FM, Ticci C, Filosto M, Rubegni A, Mongini T, Tonin P, Servidei S, Ceravolo R, Siciliano G, Mancuso M. Adult-onset mitochondrial movement disorders: a national picture from the Italian Network. J Neurol. 2021 Jul 14. Online ahead of print [IF 2020: 4.849]
116) Vasseneix C, Najjar RP, Xu X, Tang Z, Loo JL, Singhal S, Tow S, Milea L, Ting DSW, Liu Y, Wong TY, Newman NJ, Biousse V, Milea D; BONSAI Group. Accuracy of a Deep Learning System for Classification of Papilledema Severity on Ocular Fundus Photographs. Neurology. 2021 Jul 27;97(4):e369-e377. [IF 2020: 9.910]
117) Moster ML, Sergott RC, Newman NJ, Yu-Wai-Man P, Carelli V, Bryan MS, Smits G, Biousse V, Vignal-Clermont C, Klopstock T, Sadun AA, DeBusk AA, Carbonelli M, Hage R, Priglinger S, Karanjia R, Blouin L, Taiel M, Katz B, Sahel JA; LHON study group. Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies. J Neuroophthalmol. 2021 Jul 23. [IF 2020: 2.513]
118) Biousse V, Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Esposti S, La Morgia C, Priglinger C, Karanja R, Blouin L, Taiel M, Sahel JA; LHON Study Group. Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study. J Neuroophthalmol. 2021 Sep 1;41(3):309-315. [IF 2020: 2.513]
119) Vacchiano V, Caporali L, La Morgia C, Carbonelli M, Amore G, Bartolomei I, Cascavilla ML, Barboni P, Lamperti C, Catania A, Chan JW, Karanja R, Sadun AA, Liguori R, Bianchi A, Gavazzi G, Mascalchi M, Salvi F, Carelli V. The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes. Mitochondrion. 2021 Aug 11;60:142-149. [IF 2020: 4.160]
120) Borrelli E, La Morgia C, Querques G. Middle-aged Woman With Bilateral Macular Atrophy, Hearing Loss, and Headache. JAMA Ophthalmol. 2021 Sep 9. Online ahead of print [IF 2020: 7.389]
121) Carelli V, Karanjia R, La Morgia C. Editorial: Hereditary Optic Neuropathies: A New Perspective. Front Neurol. 2021 Sep 22;12:742484. [IF 2020: 4.003]
122) La Morgia C, Romagnoli M, Pizza F, Biscarini F, Filardi M, Donadio V, Carbonelli M, Amore G, Park JC, Tinazzi M, Carelli V, Liguori R, Plazzi G, Antelmi E. Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder. Mov Disord. 2021 Oct 7. [IF 2020: 10.338]
123) Santarelli R, Scimemi P, La Morgia C, Cama E, Del Castillo I, Carelli V. Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene. Audiol Res. 2021 Nov 26;11(4):639-652.
124) Bacalini MG, Palombo F, Garagnani P, Giuliani C, Fiorini C, Caporali L, Stanzani Maserati M, Capellari S, Romagnoli M, De Fanti S, Benussi L, Binetti G, Ghidoni R, Galimberti D, Scarpini E, Arcaro M, Bonanni E, Siciliano G, Maestri M, Guarnieri B; Italian Multicentric Group on clock genes, actigraphy in AD, Martucci M, Monti D, Carelli V, Franceschi C, La Morgia C, Santoro A. Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population. Geroscience. 2021 Dec 18. [IF 2020: 7.713]
125) Evangelisti S, Gramegna LL, La Morgia C, Di Vito L, Maresca A, Talozzi L, Bianchini C, Mitolo M, Manners DN, Caporali L, Valentino ML, Liguori R, Carelli V, Lodi R, Testa C, Tonon C. Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation. Mol Genet Metab. 2021 Nov 30:S1096-7192(21)00830-1 [IF 2020: 4.797]
126) Caporali L, Moresco M, Pizza F, La Morgia C, Fiorini C, Strobbe D, Zenesini C, Hooshiar Kashani B, Torroni A, Pagotto U, Carelli V, Plazzi G. The role of mtDNA haplogroups on metabolic features in narcolepsy type 1. Mitochondrion. 2022 Jan 17:S1567-7249(22)00005-8. [IF 2020: 4.160]
127) Battista M, Cascavilla ML, Grosso D, Borrelli E, Frontino G, Amore G, Carbonelli M, Bonfanti R, Rigamonti A, Barresi C, Viganò C, Tombolini B, Crepaldi A, Montemagni M, La Morgia C, Bandello F, Barboni P. Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study. Sci Rep. 2022 Feb 8;12(1):2103. [IF 2020: 4.380]
128) Calzetti G, La Morgia C, Cattaneo M, Carta A, Bosello F, Amore G, Carbonelli M, Cascavilla ML, Gandolfi S, Carelli V, Schmetterer L, Scholl HPN, Barboni P. Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):43. [IF 2020: 4.799]
129) Stenton SL, Tesarova M, Sheremet NL, Catarino C, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain. 2022 Feb 10:awac052 [IF 2020: 13.501]
130) Barboni P, Amore G, Cascavilla ML, Battista M, Frontino G, Romagnoli M, Caporali L, Baldoli C, Gramegna LL, Sessagesimi E, Bonfanti R, Romagnoli A, Scotti R, Brambati M, Carbonelli M, Starace V, Fiorini C, Panebianco R, Parisi V, Tonon C, Bandello F, Carelli V, La Morgia C. The pattern of retinal ganglion cell loss in Wolfram syndrome is distinct from mitochondrial optic neuropathies. Am J Ophthalmol. 2022 Apr 19:S0002-9394(22)00119-2.
131) Carbonelli M, La Morgia C, Romagnoli M, Amore G, D'Agati P, Valentino ML, Caporali L, Cascavilla ML, Battista M, Borrelli E, Di Renzo A, Parisi V, Balducci N, Carelli V, Barboni P. Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy. Am J Ophthalmol. 2022 May 2;241:71-79
132) Manners DN, Gramegna LL, La Morgia C, Sighinolfi G, Fiscone C, Carbonelli M, Romagnoli M, Carelli V, Tonon C, Lodi R. Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber's Hereditary Optic Neuropathy. Int J Environ Res Public Health. 2022 Jun 5;19(11):6914.
133) Barone V, La Morgia C, Caporali L, Fiorini C, Carbonelli M, Gramegna LL, Bartiromo F, Tonon C, Morandi L, Liguori R, Petrini A, Brugnano R, Del Sordo R, Covarelli C, Morroni M, Lodi R, Carelli V. Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant. Front Genet. 2022 Jun 3;13:887696.
134) Percetti M, Franco G, Monfrini E, Caporali L, Minardi R, La Morgia C, Valentino ML, Liguori R, Palmieri I, Ottaviani D, Vizziello M, Ronchi D, Di Berardino F, Cocco A, Macao B, Falkenberg M, Comi GP, Albanese A, Giometto B, Valente EM, Carelli V, Di Fonzo A. TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study. Mov Disord. 2022 Sep;37(9):1938-1943.
135) Danese A, Patergnani S, Maresca A, Peron C, Raimondi A, Caporali L, Marchi S, La Morgia C, Del Dotto V, Zanna C, Iannielli A, Segnali A, Di Meo I, Cavaliere A, Lebiedzinska-Arciszewska M, Wieckowski MR, Martinuzzi A, Moraes-Filho MN, Salomao SR, Berezovsky A, Belfort R Jr, Buser C, Ross-Cisneros FN, Sadun AA, Tacchetti C, Broccoli V, Giorgi C, Tiranti V, Carelli V, Pinton P. Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy. Cell Rep. 2022 Jul 19;40(3):111124.
136) Capristo M, Del Dotto V, Tropeano CV, Fiorini C, Caporali L, La Morgia C, Valentino ML, Montopoli M, Carelli V, Maresca A. Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys. Mol Med. 2022 Aug 3;28(1):90.
137) Misic J, Milenkovic D, Al-Behadili A, Xie X, Jiang M, Jiang S, Filograna R, Koolmeister C, Siira SJ, Jenninger L, Filipovska A, Clausen AR, Caporali L, Valentino ML, La Morgia C, Carelli V, Nicholls TJ, Wredenberg A, Falkenberg M, Larsson NG. Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion. Nucleic Acids Res. 2022 Aug 26;50(15):8749-8766.
138) Palombo F, La Morgia C, Fiorini C, Caporali L, Valentino ML, Donadio V, Liguori R, Carelli V. A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia. Neurol Genet. 2022 Aug 8;8(5):e200004.
139) Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, Bartoletti-Stella A, Capellari S, Liguori R, Carelli V. Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? J Neurol. 2022 Sep 6.
140) Vasseneix C, Nusinovici S, Xu X, Hwang JM, Hamann S, Chen JJ, Loo JL, Milea L, Tan KBK, Ting DSW, Liu Y, Newman NJ, Biousse V, Wong TY, Milea D, Najjar RP; BONSAI (Brain and Optic Nerve Study With Artificial Intelligence) Group. Deep Learning System Outperforms Clinicians in Identifying Optic Disc Abnormalities. J Neuroophthalmol. 2023 Jan 31.
141) Barboni P, La Morgia C, Cascavilla ML, Hong EH, Battista M, Majander A, Caporali L, Starace V, Amore G, Renzo AD, Carbonelli M, Nucci P, Jurkute N, Chen BS, Panebianco R, De Negri AM, Sadun F, Parisi V, Bandello F, Sadun AA, Carelli V, Yu-Wai-Man P. Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights. Am J Ophthalmol. 2022 Dec 18:S0002-9394(22)00501-3.
142) Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA; the LHON Study Group. Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation. Ophthalmol Ther. 2023 Feb;12(1):401-429.
143) La Morgia C, Mitolo M, Romagnoli M, Stanzani Maserati M, Evangelisti S, De Matteis M, Capellari S, Bianchini C, Testa C, Vandewalle G, Santoro A, Carbonelli M, D'Agati P, Filardi M, Avanzini P, Barboni P, Zenesini C, Baccari F, Liguori R, Tonon C, Lodi R, Carelli V. Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease. Ann Clin Transl Neurol. 2023 Apr 23. doi: 10.1002/acn3.51773. Epub ahead of print. PMID: 37088544.
144) Fiorini C, Ormanbekova D, Palombo F, Carbonelli M, Amore G, Romagnoli M, d'Agati P, Valentino ML, Barboni P, Cascavilla ML, De Negri A, Sadun F, Carta A, Testa F, Petruzzella V, Guerriero S, Bianchi Marzoli S, Carelli V, La Morgia C, Caporali L. The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10. Brain. 2023 Sep 1;146(9):e67-e70.
145) Asseyer S, Asgari N, Bennett J, Bialer O, Blanco Y, Bosello F, Camos-Carreras A, Carnero Contentti E, Carta S, Chen J, Chien C, Chomba M, Dale RC, Dalmau J, Feldmann K, Flanagan EP, Froment Tilikete C, Garcia-Alfonso C, Havla J, Hellmann M, Kim HJ, Klyscz P, Konietschke F, La Morgia C, Lana-Peixoto M, Leite MI, Levin N, Levy M, Llufriu S, Lopez P, Lotan I, Lugaresi A, Marignier R, Mariotto S, Mollan SP, Ocampo C, Cosima Oertel F, Olszewska M, Palace J, Pandit L, Peralta Uribe JL, Pittock S, Ramanathan S, Rattanathamsakul N, Saiz A, Samadzadeh S, Sanchez-Dalmau B, Saylor D, Scheel M, Schmitz-Hübsch T, Shifa J, Siritho S, Sperber PS, Subramanian PS, Tiosano A, Vaknin-Dembinsky A, Mejia Vergara AJ, Wilf-Yarkoni A, Zarco LA, Zimmermann HG, Paul F, Stiebel-Kalish H. The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritis. Front Neurol. 2023 Feb 24;14:1102353.
146) Biousse V, Najjar RP, Tang Z, Lin MY, Wright DW, Keadey MT, Wong TY, Bruce BB, Milea D, Newman NJ; BONSAI Study Group. Application of a deep learning system to detect papilledema on nonmydriatic ocular fundus photographs in an emergency department. Am J Ophthalmol. 2023 Nov 4:S0002-9394(23)00456-7.
147) Romagnoli M, Amore G, Avanzini P, Carelli V, La Morgia C. Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer's disease and other neurodegenerative disorders: a review. Front Psychol. 2024 Jan 8;14:1295129.
148)Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy. Cell Rep Med. 2024 Jan 17:101383.
149) Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C. AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients. Am J Ophthalmol. 2024 Jan 24:S0002-9394(24)00014-X.
150) Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Brain. 2024 Mar 13:awae057.
151) Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group. Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial. Cell Rep Med. 2024 Mar 19;5(3):101437.
152) Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. Am J Hum Genet. 2024 Mar 7;111(3):594-613.
153) Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome. Brain Commun. 2024 May 6;6(3):fcae160
154) Giannoccaro MP, Morelli L, Ricciardiello F, Donadio V, Bartiromo F, Tonon C, Carbonelli M, Amore G, Carelli V, Liguori R, La Morgia C. Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations. Eur J Neurol. 2024 Sep;31(9):e16344.
155) Stanzani-Maserati M, De Matteis M, Bosco L, Baccari F, Zenesini C, Mitolo M, La Morgia C, Gallassi R, Capellari S. "Build Your Village"-Conducting the Village Test on Cognitively Impaired Patients: A First Journey into Alzheimerland. Brain Sci. 2024 May 21;14(6):523.
156) Sathianvichitr K, Najjar RP, Zhiqun T, Fraser JA, Yau CWL, Girard MJA, Costello F, Lin MY, Lagrèze WA, Vignal-Clermont C, Fraser CL, Hamann S, Newman NJ, Biousse V, Milea D; BONSAI Group. A Deep Learning Approach for Accurate Discrimination Between Optic Disc Drusen and Papilledema on Fundus Photographs. J Neuroophthalmol. 2024 Aug 2
157) La Morgia C, Cascavilla ML, De Negri AM, Romano M, Canalini F, Rossi S, Centonze D, Filippi M. Recognizing Leber's Hereditary Optic Neuropathy to avoid delayed diagnosis and misdiagnosis. Front Neurol. 2024 Sep 19;15:1466275
158) Gungor A, Najjar RP, Hamann S, Tang Z, Lagrèze WA, Sadun R, Sathianvichitr K, Dinkin MJ, Oliveira C, Li A, Sadun F, Carey AR, Bouthour W, Lin MY, Loo JL, Miller NR, Newman NJ, Biousse V, Milea D; BONSAI Group. Deep Learning to Discriminate Arteritic From Nonarteritic Ischemic Optic Neuropathy on Color Images. JAMA Ophthalmol. 2024 Oct 17
159) Yu-Wai-Man P, Newman NJ, Biousse V, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Degli Esposti S, La Morgia C, Priglinger C, Karanja R, Taiel M, Sahel JA; LHON Study Group. Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy. JAMA Ophthalmol. 2024 Dec 19
160) Tropeano CV, La Morgia C, Achilli A, Iommarini L, Tioli G, Caporali L, Olivieri A, Valentino ML, Liguori R, Barboni P, Martinuzzi A, Tonon C, Lodi R, Torroni A, Carelli V, Ghelli AM. Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene. Int J Mol Sci. 2025 Jan 27;26(3):1116.
161) Carli S, Levarlet A, Diodato D, Bertini ES, Martinelli D, Malandrini A, Lopergolo D, Gallus GN, Ganetzky RD, La Morgia C, Carelli V, Primiano G, Domínguez-González C, Serrano-Lorenzo P, Martín MA, Ardissone A, Lamperti C, Nicoletta V, Klopstock T, Distelmaier F, Zeng L, Büchner B, Mancuso M, Schuelke M, Prigione A, Garone C. Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8. Neurology. 2025 Apr;104(7):e213462.
162) Giacomozzi S, Bonan L, La Morgia C, Carbonelli M, Santucci M, Isidori F, Pippucci T, Liguori R, Rizzo G. Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia. Mov Disord Clin Pract. 2025 Apr 2
163) Coutinho CP, Zanchetta F, Carbonelli M, Battista M, Galzignato A, La Morgia C, Amore G, Romagnoli M, Savini G, Brotto L, Nucci P, Caporali L, Bandello F, Carelli V, Cascavilla ML, Fioresi R, Barboni P. Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients. Transl Vis Sci Technol. 2025 Jun 2;14(6):20. doi: 10.1167/tvst.14.6.20. PMID: 40492996; PMCID: PMC12165266.
Book chapters:
1) Chiara La Morgia, Fred N. Ross-Cisneros, Jens Hannibal, Alfredo A. Sadun, Valerio Carelli, Pasquale Montagna. Sleep and Circadian Rhythms in Neurodegenerative Disorders: Role of Melanopsin Expressing Retinal Ganglion Cells in “Circadian Rhythms: Biology, Cognition and Disorders”, Editors: Luka Golovkin and Alexei Maliszkewic, Nova Publishers, Inc.; 2012a. Chapter 13, p. 293-326.
2) Chiara La Morgia, Michele Carbonelli “Friedreich's ataxia and more: optical coherence tomography findings in rare neurological syndromes”, in “OCT in Central Nervous System Diseases”, Editors: Andrzej Grzybowski and Piero Barboni, Springer, 2016. p. 143-166
3) Patrick Yu-Wai-Man, Chiara La Morgia and Valerio Carelli. Section 2: Systems Involved in Mitochondrial Diseases in Clinical Mitochondrial Medicine, Chapter 9 (Ophthalmology), Editors: Patrick F. Chinnery and Michael J. Keogh, Cambridge University Press 2018, P. 95-111
4) Valerio Carelli, Chiara La Morgia, and Thomas Klopstock. Chapter “Mitochondrial Optic Neuropathies” in Diagnosis and Management of Mitochondrial Disorders, Editors: Michelangelo Mancuso and Thomas Klopstock, Springer 2019, p. 125-140
5) Chiara La Morgia, Michele Carbonelli “Friedreich's ataxia and more: optical coherence tomography findings in rare neurological syndromes”, in “OCT in Central Nervous System Diseases”, 2nd Edition Editors: Andrzej Grzybowski and Piero Barboni, Springer, 2020. p. 289-316
6) Chiara La Morgia, Valerio Carelli, Alfredo A Sadun. Section 3: The circadian system. “Retina and melanopsin neurons” in “The Human Hypothalamus: Anterior Hypothalamus”, editors Dick F. Swaab, Paul J. Lucassen and Rudolf Buijs. La Morgia C, Carelli V, Sadun AA. Retina and melanopsin neurons. Handb Clin Neurol. 2021;179:315-329.
7) Valerio Carelli, Chiara La Morgia, and Piero Barboni “Autosomal recessive optic neuropathy”; and Nicole Balducci, Chiara La Morgia, Michele Carbonelli, Piero Barboni, and Valerio Carelli “Wolfram Syndrome Spectrum”, chapter 15-Genetic disorders affecting the optic nerve in Clinical Ophthalmic Genetics and Genomics, Elsevier 2022, ISBN 978-0-12-813944-8
8) Carelli V, La Morgia C, Yu-Wai-Man P. Mitochondrial optic neuropathies. Handb Clin Neurol. 2023;194:23-42.
9) Chiara La Morgia, Michele Carbonelli “Friedreich's ataxia and more: optical coherence tomography findings in rare neurological syndromes”, in “OCT in Central Nervous System Diseases”, 3rd edition Editors: Andrzej Grzybowski and Piero Barboni, Springer, 2025. p. 373-406
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