Publications by authors named "Valerio Carelli"

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Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a Pathogenic Variant.
Micol Avenali, Carlo Alberto Artusi, Roberto Cilia, Giulia Giannini, Giada Cuconato, Valerio Carelli

Neurology· November 2025

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Nerve Root Enhancement and Elevated Cerebrospinal Fluid Protein in Four Patients With SOD1-Linked Amyotrophic Lateral Sclerosis.
Veria Vacchiano, Cosmanna Ragucci, Giovanni Rizzo, Vitantonio Di Stasi, Francesca Pastorelli, Valerio Carelli

Eur J Neurol· November 2025

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Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Claudio Fiorini, Neringa Jurkute, Alessandra Torraco, Chiara La Morgia, Daniele Ghezzi, Valerio Carelli

Brain· November 2025

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New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.
Lorenzo Muccioli, Maria Tappatà, Andrea Farolfi, Pankaj K Singh, Elena Pasini, Valerio Carelli

Neurotherapeutics· November 2025

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[Not Available].
Sara Mazzucato, Piervito Lopriore, Francesco Daddoveri, Costanza Lamperti, Valerio Carelli

Recenti Prog Med· October 2025

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Progressive encephalopathy in m.3243A > G/MT-TL1 mutation carriers: a quantitative EEG analysis.
Anna Scarabello, Federico Mason, Lorenzo Ferri, Flavia Baccari, Alessandra Maresca, Valerio Carelli

Clin Neurophysiol· September 2025

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Late-onset Leber's hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link?
Giulia Amore, Michele Carbonelli, Diego D'Angeli, Luigi Bonan, Marco Faustini-Fustini, Valerio Carelli

Front Neurol· September 2025

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Metformin may alter the course of Leber's hereditary optic neuropathy: a case report.
Shenoda Abd Elmaseh, Danielle A Gauthier, Maryam Golmohammadi, Nutsa Pargalava, Valerio Carelli

Front Med (Lausanne)· September 2025

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A Case of Late-Onset Leber's Hereditary Optic Neuropathy in Association with Heteroplasmic m.11778G>A/ND4 Mutation.
Giacomo Portaro, Francesco Cavallieri, Giulia Amore, Michele Carbonelli, Simone Pelloni, Valerio Carelli

Neuroophthalmology· September 2025

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Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy.
Robert C Sergott, Valerio Carelli, Nancy J Newman, Valérie Biousse, Patrick Yu-Wai-Man

Invest Ophthalmol Vis Sci· July 2025

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The origin of modern North Africans as depicted by a massive survey of mitogenomes.
Giulia Colombo, Elisabetta Moroni, Alessandro Raveane, Nicola Rambaldi Migliore, Vincenzo Agostini, Valerio Carelli

Sci Rep· July 2025

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Case Report: Novel pathogenic variants associated with early-onset parkinsonism and a mini-review.
Leonardo Affronte, Antonella Pini, Claudia Pizzoli, Emanuele Coccia, Serena Mazzone, Valerio Carelli

Front Genet· July 2025

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Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients.
Catarina P Coutinho, Ferdinando Zanchetta, Michele Carbonelli, Marco Battista, Alice Galzignato, Valerio Carelli

Transl Vis Sci Technol· June 2025

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Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.
Giovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, Eliana Zacchi, Sara Calabrese, Valerio Carelli

Clin Genet· May 2025

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LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.
Giada Cuconato, Ilaria Palmieri, Marco Percetti, Serena Pagliarani, Sara Tenace, Valerio Carelli

Parkinsonism Relat Disord· May 2025

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Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Eleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, Valentine Clerc, Xavier Grand, Valerio Carelli

Brain· April 2025

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Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Sara Carli, Anna Levarlet, Daria Diodato, Enrico Silvio Bertini, Diego Martinelli, Valerio Carelli

Neurology· April 2025

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Elevated circulating cell-free mitochondrial DNA level in cerebrospinal fluid of narcolepsy type 1.
Monica Moresco, Concetta Valentina Tropeano, Martina Romagnoli, Giulia Neccia, Alessandro Rapone, Valerio Carelli

Brain Commun· April 2025

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Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
Patrick Yu-Wai-Man, Nancy J Newman, Valérie Biousse, Valerio Carelli, Mark L Moster

JAMA Ophthalmol· February 2025

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Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.
Chiara Diquigiovanni, Nicola Rizzardi, Erica Cataldi-Stagetti, Livia Gozzellino, Federica Isidori, Valerio Carelli

Gastroenterology· January 2025

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Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy.
Nancy J Newman, Valérie Biousse, Patrick Yu-Wai-Man, Valerio Carelli, Catherine Vignal-Clermont

Surv Ophthalmol· January 2025

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Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome () Gene.
Concetta Valentina Tropeano, Chiara La Morgia, Alessandro Achilli, Luisa Iommarini, Gaia Tioli, Valerio Carelli

Int J Mol Sci· January 2025

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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M Ennes

Orphanet J Rare Dis· November 2024

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A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I.
Laura Rigobello, Francesca Lugli, Leonardo Caporali, Alessio Bartocci, Jacopo Fadanni, Valerio Carelli

Int J Biol Macromol· July 2024

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Gene therapy for Leber hereditary optic neuropathy.
Marco Battista, Valerio Carelli, Leonardo Bottazzi, Francesco Bandello, Maria Lucia Cascavilla

Expert Opin Biol Ther· June 2024

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