Works by Carelli, Valerio

Results: 199

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.

Published in:

Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z

By:

Capristo, Mariantonietta;
Del Dotto, Valentina;
Tropeano, Concetta Valentina;
Fiorini, Claudio;
Caporali, Leonardo;
La Morgia, Chiara;
Valentino, Maria Lucia;
Montopoli, Monica;
Carelli, Valerio;
Maresca, Alessandra

Publication type:

Article

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.

Published in:

Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z

By:

Capristo, Mariantonietta;
Del Dotto, Valentina;
Tropeano, Concetta Valentina;
Fiorini, Claudio;
Caporali, Leonardo;
La Morgia, Chiara;
Valentino, Maria Lucia;
Montopoli, Monica;
Carelli, Valerio;
Maresca, Alessandra

Publication type:

Article

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063

By:

Ticci, Chiara;
Orsucci, Daniele;
Ardissone, Anna;
Bello, Luca;
Bertini, Enrico;
Bonato, Irene;
Bruno, Claudio;
Carelli, Valerio;
Diodato, Daria;
Doccini, Stefano;
Donati, Maria Alice;
Dosi, Claudia;
Filosto, Massimiliano;
Fiorillo, Chiara;
La Morgia, Chiara;
Lamperti, Costanza;
Marchet, Silvia;
Martinelli, Diego;
Minetti, Carlo;
Moggio, Maurizio

Publication type:

Article

Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.

Published in:

Cerebellum, 2017, v. 16, n. 1, p. 82, doi. 10.1007/s12311-016-0767-z

By:

Gramegna, Laura;
Tonon, Caterina;
Manners, David;
Pini, Antonella;
Rinaldi, Rita;
Zanigni, Stefano;
Bianchini, Claudio;
Evangelisti, Stefania;
Fortuna, Filippo;
Carelli, Valerio;
Testa, Claudia;
Lodi, Raffaele

Publication type:

Article

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00860

By:

Ronchi, Dario;
Caporali, Leonardo;
Manenti, Giulia Francesca;
Meneri, Megi;
Mohamed, Susan;
Bordoni, Andreina;
Tagliavini, Francesca;
Contin, Manuela;
Piga, Daniela;
Sciacco, Monica;
Saetti, Cristina;
Carelli, Valerio;
Comi, Giacomo Pietro

Publication type:

Article

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.

Published in:

Audiology Research, 2021, v. 11, n. 4, p. 639, doi. 10.3390/audiolres11040059

By:

Santarelli, Rosamaria;
Scimemi, Pietro;
La Morgia, Chiara;
Cama, Elona;
del Castillo, Ignacio;
Carelli, Valerio

Publication type:

Article

Editorial: Hereditary Optic Neuropathies: A New Perspective.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.742484

By:

Carelli, Valerio;
Karanjia, Rustum;
La Morgia, Chiara

Publication type:

Article

Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.681326

By:

Del Dotto, Valentina;
Carelli, Valerio

Publication type:

Article

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.657317

By:

Peverelli, Lorenzo;
Catania, Alessia;
Marchet, Silvia;
Ciasca, Paola;
Cammarata, Gabriella;
Melzi, Lisa;
Bellino, Antonella;
Fancellu, Roberto;
Lamantea, Eleonora;
Capristo, Mariantonietta;
Caporali, Leonardo;
La Morgia, Chiara;
Carelli, Valerio;
Ghezzi, Daniele;
Bianchi Marzoli, Stefania;
Lamperti, Costanza

Publication type:

Article

Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.648916

By:

Peron, Camille;
Maresca, Alessandra;
Cavaliere, Andrea;
Iannielli, Angelo;
Broccoli, Vania;
Carelli, Valerio;
Di Meo, Ivano;
Tiranti, Valeria

Publication type:

Article

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.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.662838

By:

Newman, Nancy J.;
Yu-Wai-Man, Patrick;
Carelli, Valerio;
Biousse, Valerie;
Moster, Mark L.;
Vignal-Clermont, Catherine;
Sergott, Robert C.;
Klopstock, Thomas;
Sadun, Alfredo A.;
Girmens, Jean-François;
La Morgia, Chiara;
DeBusk, Adam A.;
Jurkute, Neringa;
Priglinger, Claudia;
Karanjia, Rustum;
Josse, Constant;
Salzmann, Julie;
Montestruc, François;
Roux, Michel;
Taiel, Magali

Publication type:

Article

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.652590

By:

Engvall, Martin;
Kawasaki, Aki;
Carelli, Valerio;
Wibom, Rolf;
Bruhn, Helene;
Lesko, Nicole;
Schober, Florian A.;
Wredenberg, Anna;
Wedell, Anna;
Träisk, Frank

Publication type:

Article

OPA1-RELATED AUDITORY NEUROPATHY: SITE OF LESION AND OUTCOME OF COCHLEAR IMPLANTATION.

Published in:

Journal of International Advanced Otology, 2015, v. 11, p. 15

By:

Santarelli, Rosamaria;
Scimemi, Pietro;
Cama, Elona;
Valentino, Maria Lucia;
Morgia, Chiara La;
Caporali, Leonardo;
Liguori, Rocco;
Carelli, Valerio

Publication type:

Article

Chromatic Pupillometry Findings in Alzheimer's Disease.

Published in:

Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.00780

By:

Romagnoli, Martina;
Stanzani Maserati, Michelangelo;
De Matteis, Maddalena;
Capellari, Sabina;
Carbonelli, Michele;
Amore, Giulia;
Cantalupo, Gaetano;
Zenesini, Corrado;
Liguori, Rocco;
Sadun, Alfredo A.;
Carelli, Valerio;
Park, Jason C.;
La Morgia, Chiara

Publication type:

Article

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.

Published in:

International Journal of Environmental Research & Public Health, 2022, v. 19, n. 11, p. 6914, doi. 10.3390/ijerph19116914

By:

Manners, David Neil;
Gramegna, Laura Ludovica;
La Morgia, Chiara;
Sighinolfi, Giovanni;
Fiscone, Cristiana;
Carbonelli, Michele;
Romagnoli, Martina;
Carelli, Valerio;
Tonon, Caterina;
Lodi, Raffaele

Publication type:

Article

Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort".

Published in:

Movement Disorders, 2023, v. 38, n. 4, p. 709, doi. 10.1002/mds.29373

By:

Percetti, Marco;
Monfrini, Edoardo;
Caporali, Leonardo;
Minardi, Raffaella;
Carelli, Valerio;
Valente, Enza Maria;
Di Fonzo, Alessio

Publication type:

Article

Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts.

Published in:

2022

By:

Percetti, Marco;
Monfrini, Edoardo;
Caporali, Leonardo;
Minardi, Raffaella;
Carelli, Valerio;
Valente, Enza Maria;
Di Fonzo, Alessio

Publication type:

Letter

Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder.

Published in:

Movement Disorders, 2022, v. 37, n. 1, p. 205, doi. 10.1002/mds.28809

By:

La Morgia, Chiara;
Romagnoli, Martina;
Pizza, Fabio;
Biscarini, Francesco;
Filardi, Marco;
Donadio, Vincenzo;
Carbonelli, Michele;
Amore, Giulia;
Park, Jason C.;
Tinazzi, Michele;
Carelli, Valerio;
Liguori, Rocco;
Plazzi, Giuseppe;
Antelmi, Elena

Publication type:

Article

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

Published in:

2017

By:

Giannoccaro, Maria Pia;
La Morgia, Chiara;
Rizzo, Giovanni;
Carelli, Valerio

Publication type:

journal article

Myoclonus in mitochondrial disorders.

Published in:

Movement Disorders, 2014, v. 29, n. 6, p. 722, doi. 10.1002/mds.25839

By:

Mancuso, Michelangelo;
Orsucci, Daniele;
Angelini, Corrado;
Bertini, Enrico;
Catteruccia, Michela;
Pegoraro, Elena;
Carelli, Valerio;
Valentino, Maria L.;
Comi, Giacomo P.;
Minetti, Carlo;
Bruno, Claudio;
Moggio, Maurizio;
Ienco, Elena Caldarazzo;
Mongini, Tiziana;
Vercelli, Liliana;
Primiano, Guido;
Servidei, Serenella;
Tonin, Paola;
Scarpelli, Mauro;
Toscano, Antonio

Publication type:

Article

Brain diffusion-weighted imaging in Friedreich's ataxia.

Published in:

Movement Disorders, 2011, v. 26, n. 4, p. 705, doi. 10.1002/mds.23518

By:

Rizzo, Giovanni;
Tonon, Caterina;
Valentino, Maria Lucia;
Manners, David;
Fortuna, Filippo;
Gellera, Cinzia;
Pini, Antonella;
Ghezzo, Alessandro;
Baruzzi, Agostino;
Testa, Claudia;
Malucelli, Emil;
Barbiroli, Bruno;
Carelli, Valerio;
Lodi, Raffaele

Publication type:

Article

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

Published in:

2016

By:

D'Angelo, Roberto;
Rinaldi, Rita;
Carelli, Valerio;
Boschetti, Elisa;
Caporali, Leonardo;
Capristo, Mariantonietta;
Casali, Carlo;
Cenacchi, Giovanna;
Gramegna, Laura;
Lodi, Raffaele;
Pinna, Antonio;
Pironi, Loris;
Stanzani, Marta;
Tonon, Caterina;
D'Alessandro, Roberto;
De Giorgio, Roberto;
Gramegna, Laura Ludovica;
Pinna, Antonio Daniele

Publication type:

journal article

Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.

Published in:

JAMA Ophthalmology, 2025, v. 143, n. 2, p. 99, doi. 10.1001/jamaophthalmol.2024.5375

By:

Yu-Wai-Man, Patrick;
Newman, Nancy J.;
Biousse, Valérie;
Carelli, Valerio;
Moster, Mark L.;
Vignal-Clermont, Catherine;
Klopstock, Thomas;
Sadun, Alfredo A.;
Sergott, Robert C.;
Hage, Rabih;
Degli Esposti, Simona;
La Morgia, Chiara;
Priglinger, Claudia;
Karanja, Rustum;
Taiel, Magali;
Sahel, José-Alain

Publication type:

Article

Progression of micro-anatomical, molecular and metabolic changes affecting the liver of patients with TYMP derived mitochondrial disease.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2023, p. 46

By:

Boschetti, Elisa;
Neri, Irene;
Caporali, Leonardino;
Fiorini, Claudio;
Ormanbekova, Danara;
Righi, Valeria;
Rinaldi, Rita;
D’Angelo, Roberto;
Malagelada, Carolina;
Costa, Roberta;
Cenacchi, Giovanna;
Pironi, Loris;
Carelli, Valerio;
De Giorgio, Roberto;
Ratti, Stefano;
Manzoli, Lucia

Publication type:

Article

Microvascular alterations in idiopathic forms of Chronic Intestinal Pseudo- Obstruction: a morphometric and molecular analysis.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 258

By:

Neri, Irene;
Boschetti, Elisa;
Caporali, Leonardo;
D’Angelo, Roberto;
Rinaldi, Rita;
Carelli, Valerio;
De Giorgio, Roberto;
Ratti, Stefano;
Cocco, Lucio I. M.;
Manzoli, Lucia

Publication type:

Article

Laser micro-anatomical dissection reveals the recovery of mtDNA depletion in the ileum of a Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) patient receiving liver transplant.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 31

By:

Boschetti, Elisa;
Neri, Irene;
Caporali, Leonardo;
D’Angelo, Roberto;
Rinaldi, Rita;
Carelli, Valerio;
Giorgio, Roberto De;
Ratti, Stefano;
Cocco, Lucio I.;
Manzoli, Lucia

Publication type:

Article

Cellular and metabolic changes in the liver tissue of patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 207

By:

Boschetti, Elisa;
Caporali, Leonardo;
D'Angelo, Roberto;
Tardio, Maria Lucia;
Costa, Roberta;
Accarino, Anna;
Malagelada, Carolina;
Righi, Valeria;
Costanzini, Anna;
D'Errico, Antonietta;
Cenacchi, Giovanna;
Sternini, Catia;
Stanghellini, Vincenzo;
Pironi, Loris;
Rinaldi, Rita;
Ratti, Stefano;
Manzoli, Lucia;
Carelli, Valerio;
De Giorgio, Roberto

Publication type:

Article

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Published in:

Clinical Genetics, 2025, v. 107, n. 5, p. 570, doi. 10.1111/cge.14684

By:

Innella, Giovanni;
Coccia, Emanuele;
Cristalli, Carlotta Pia;
Zacchi, Eliana;
Calabrese, Sara;
Bacchi, Isabelle;
Palombo, Flavia;
Taormina, Sara;
Evangelisti, Cecilia;
Lanzoni, Giulia;
Carelli, Valerio;
Diquigiovanni, Chiara;
Ferrari, Simona;
Panza, Emanuele;
Rossi, Cesare;
Vaisfeld, Alessandro;
Bonora, Elena;
Turchetti, Daniela

Publication type:

Article

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

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 477, doi. 10.1111/cge.13823

By:

Minardi, Raffaella;
Licchetta, Laura;
Baroni, Maria Chiara;
Pippucci, Tommaso;
Stipa, Carlotta;
Mostacci, Barbara;
Severi, Giulia;
Toni, Francesco;
Bergonzini, Luca;
Carelli, Valerio;
Seri, Marco;
Tinuper, Paolo;
Bisulli, Francesca

Publication type:

Article

Long‐term results of unilateral or bilateral injection of lenadogene nolparvovec gene therapy for leber hereditary optic neuropathy.

Published in:

2025

By:

Biousse, Valérie;
Yu‐Wai‐Man, Patrick;
Newman, Nancy;
Subramanian, Prem;
Moster, Mark;
Wang, An‐Guor;
Donahue, Sean;
Leroy, Bart;
Carelli, Valerio;
Vignal‐Clermont, Catherine;
Sadun, Alfredo;
Sergott, Robert;
Fernández, Gema Rebolleda;
Chwalisz, Bart;
Banik, Rudrani;
Taiel, Magali;
Sahel, José‐Alain

Publication type:

Abstract

Ocular post‐mortem analyses with histopathological and molecular assessments in leber hereditary optic neuropathy following AAV2 gene therapy.

Published in:

Acta Ophthalmologica (1755375X), 2025, v. 103, p. N.PAG, doi. 10.1111/aos.17309

By:

Carelli, Valerio;
Newman, Nancy;
Caporali, Leonardo;
Ross‐Cisneros, Fred;
Boschetti, Elisa;
Biousse, Valérie;
DuBois, Lindreth;
Liu, Henry;
Ancian, Philippe;
Taiel, Magali;
Sadun, Alfredo

Publication type:

Article

Exploratory and comprehensive description of an italian cohort of patients affected by leber hereditary optic neuropathy carrying the pathogenic variants m.11778G > A/MT‐ND4 and m.3460G > A/MT‐ND1.

Published in:

Acta Ophthalmologica (1755375X), 2025, v. 103, p. N.PAG, doi. 10.1111/aos.17310

By:

Romagnoli, Martina;
Carbonelli, Michele;
Amore, Giulia;
Fiorini, Claudio;
Zenesini, Corrado;
D'Agati, Pietro;
Tropeano, Concetta Valentina;
Cascavilla, Maria Lucia;
Barboni, Piero;
Caporali, Leonardo;
Carelli, Valerio;
La Morgia, Chiara

Publication type:

Article

Archetypal analysis for visual field loss characterization of leber hereditary optic neuropathy.

Published in:

2025

By:

Coutinho, Catarina;
Zanchetta, Ferdinando;
Carbonelli, Michele;
Galzignato, Alice;
Battista, Marco;
Fantaguzzi, Federico;
Amore, Giulia;
Carelli, Valerio;
Brotto, Luigi;
Nucci, Paolo;
Checchin, Lisa;
Savini, Giacomo;
Bandello, Francesco;
La Morgia, Chiara;
Cascavilla, Maria Lucia;
Fioresi, Rita;
Barboni, Piero

Publication type:

Abstract

Visual acuity outcomes by age at symptom onset in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey‐2 (CRS‐2).

Published in:

2025

By:

Llòria, Xavier;
Yu‐Wai‐Man, Patrick;
van Everdingen, Judith;
Leroy, Bart;
Krawczynski, Maciej;
Lamperti, Costanza;
Carelli, Valerio;
Klopstock, Thomas

Publication type:

Abstract

Visual acuity outcomes by causative mutation in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey‐2 (CRS‐2).

Published in:

2025

By:

Yu‐Wai‐Man, Patrick;
van Everdingen, Judith;
Leroy, Bart;
Krawczynski, Maciej;
Lamperti, Costanza;
Carelli, Valerio;
Llòria, Xavier;
Klopstock, Thomas

Publication type:

Abstract

Impact of time to idebenone initiation on visual acuity in leber hereditary optic neuropathy: Post hoc analysis of the leros study.

Published in:

2025

By:

Carelli, Valerio;
Yu‐Wai‐Man, Patrick;
Llòria, Xavier;
Silva, Magda Joana;
Klopstock, Thomas

Publication type:

Abstract

Matching algorithm utilised in the leros study of idebenone efficacy in leber hereditary optic neuropathy.

Published in:

Acta Ophthalmologica (1755375X), 2025, v. 103, p. N.PAG, doi. 10.1111/aos.17150

By:

Newman, Nancy;
Llòria, Xavier;
Silva, Magda Joana;
Yu‐Wai‐Man, Patrick;
Carelli, Valerio;
Klopstock, Thomas

Publication type:

Article

Automated OCT‐angiography segmentation of the optic nerve head to distinguish optic disc edema and pseudo‐edema.

Published in:

2025

By:

Battista, Marco;
Oakley, Jonathan;
Carbonelli, Michele;
Coutinho, Catarina;
Galzignato, Alice;
Brotto, Luigi;
Amore, Giulia;
Mularoni, Cecilia;
Bosello, Francesca;
Erba, Stefano;
Nucci, Paolo;
Lenzetti, Chiara;
Gagliano, Caterina;
Capobianco, Matteo;
Dell'Arti, Laura;
Carelli, Valerio;
Bandello, Francesco;
La Morgia, Chiara;
Cascavilla, Maria Lucia;
Barboni, Piero

Publication type:

Abstract

Predictive factors of final visual outcome in patients with leber hereditary optic neuropathy treated with lenadogene nolparvovec gene therapy.

Published in:

2025

By:

Barboni, Piero;
Newman, Nancy;
Biousse, Valérie;
Yu‐Wai‐Man, Patrick;
Carelli, Valerio;
Vignal‐Clermont, Catherine;
Josse, Constant;
Taiel, Magali;
Sahel, José‐Alain;
Sergott, Robert

Publication type:

Abstract

Exploratory and comprehensive description of an Italian cohort of patients affected by leber hereditary optic neuropathy carrying the pathogenic variants m.11778G > A/MT‐ND4 and m.3460G > A/MT‐ND1.

Published in:

2025

By:

Romagnoli, Martina;
Carbonelli, Michele;
Amore, Giulia;
Fiorini, Claudio;
Zenesini, Corrado;
D'Agati, Pietro;
Tropeano, Concetta Valentina;
Cascavilla, Maria Lucia;
Barboni, Piero;
Caporali, Leonardo;
Carelli, Valerio;
La Morgia, Chiara

Publication type:

Abstract

Long‐term results of unilateral or bilateral injection of lenadogene nolparvovec gene therapy for leber hereditary optic neuropathy.

Published in:

2025

By:

Biousse, Valérie;
Yu‐Wai‐Man, Patrick;
Newman, Nancy;
Subramanian, Prem;
Moster, Mark;
Wang, An‐Guor;
Donahue, Sean;
Leroy, Bart;
Carelli, Valerio;
Vignal‐Clermont, Catherine;
Sadun, Alfredo;
Sergott, Robert;
Fernández, Gema Rebolleda;
Chwalisz, Bart;
Banik, Rudrani;
Taiel, Magali;
Sahel, José‐Alain

Publication type:

Abstract

Archetypal analysis for visual field loss characterization of leber hereditary optic neuropathy.

Published in:

2025

By:

Coutinho, Catarina;
Zanchetta, Ferdinando;
Carbonelli, Michele;
Galzignato, Alice;
Battista, Marco;
Fantaguzzi, Federico;
Amore, Giulia;
Carelli, Valerio;
Brotto, Luigi;
Nucci, Paolo;
Checchin, Lisa;
Savini, Giacomo;
Bandello, Francesco;
La Morgia, Chiara;
Cascavilla, Maria Lucia;
Fioresi, Rita;
Barboni, Piero

Publication type:

Abstract

Visual acuity outcomes by causative mutation in the natural history of leber hereditary optic neuropathy: Analysis of historical data from case record survey‐2 (CRS‐2).

Published in:

2025

By:

Yu‐Wai‐Man, Patrick;
van Everdingen, Judith;
Leroy, Bart;
Krawczynski, Maciej;
Lamperti, Costanza;
Carelli, Valerio;
Llòria, Xavier;
Klopstock, Thomas

Publication type:

Abstract

Visual acuity outcomes by age at symptom onset in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey‐2 (CRS‐2).

Published in:

2025

By:

Llòria, Xavier;
Yu‐Wai‐Man, Patrick;
van Everdingen, Judith;
Leroy, Bart;
Krawczynski, Maciej;
Lamperti, Costanza;
Carelli, Valerio;
Klopstock, Thomas

Publication type:

Abstract

Impact of time to idebenone initiation on visual acuity in leber hereditary optic neuropathy: Post hoc analysis of the leros study.

Published in:

2025

By:

Carelli, Valerio;
Yu‐Wai‐Man, Patrick;
Llòria, Xavier;
Silva, Magda Joana;
Klopstock, Thomas

Publication type:

Abstract

Predictive factors of final visual outcome in patients with leber hereditary optic neuropathy treated with lenadogene nolparvovec gene therapy.

Published in:

2025

By:

Barboni, Piero;
Newman, Nancy;
Biousse, Valérie;
Yu‐Wai‐Man, Patrick;
Carelli, Valerio;
Vignal‐Clermont, Catherine;
Josse, Constant;
Taiel, Magali;
Sahel, José‐Alain;
Sergott, Robert

Publication type:

Abstract

Visual acuity outcomes by sex in a historical population of patients with leber hereditary optic neuropathy from case record survey‐2 (CRS‐2).

Published in:

2025

By:

Votruba, Marcela;
Leroy, Bart;
Yu‐Wai‐Man, Patrick;
Van Everdingen, Judith;
Krawczynski, Maciej;
Lamperti, Costanza;
Carelli, Valerio;
Llòria, Xavier;
Klopstock, Thomas

Publication type:

Abstract

Changes in visual acuity categories in a historical population of patients with leber hereditary optic neuropathy from case record survey‐2 (CRS‐2).

Published in:

2025

By:

Klopstock, Thomas;
Leroy, Bart;
Yu‐Wai‐Man, Patrick;
van Everdingen, Judith;
Krawczynski, Maciej;
Lamperti, Costanza;
Carelli, Valerio;
Llòria, Xavier

Publication type:

Abstract

Meta‐analysis of treatment outcomes for patients with m.117 | 8G>A MT‐ND4 leber hereditary optic neuropathy.

Published in:

2025

By:

Newman, Nancy;
Biousse, Valérie;
Yu‐Wai‐Man, Patrick;
Carelli, Valerio;
Vignal‐Clermont, Catherine;
Montestruc, François;
Taiel, Magali;
Sahel, José‐Alain

Publication type:

Abstract

Efficacy and safety of lenadogene nolparvovec gene therapy for leber hereditary optic neuropathy in the real‐life setting.

Published in:

Acta Ophthalmologica (1755375X), 2025, v. 103, p. N.PAG, doi. 10.1111/aos.16931

By:

Yu‐Wai‐Man, Patrick;
Vignal‐Clermont, Catherine;
Carelli, Valerio;
La Morgia, Chiara;
Moster, Mark;
Sergott, Robert;
Donahue, Sean;
Dollfus, Hélène;
Klopstock, Thomas;
Priglinger, Claudia;
Hage, Rabih;
Smirnov, Vasily;
Cochard, Catherine;
Rougier, Marie‐Benedicte;
Tournaire‐Marques, Emilie;
Lebranchu, Pierre;
Froment, Caroline;
Pollet‐Villard, Frederic;
Laville, Marie‐Alice;
Prospero‐Ponce, Claudia

Publication type:

Article