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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 9
2003 8
2004 10
2005 9
2006 11
2007 12
2008 14
2009 9
2010 12
2011 14
2012 12
2013 20
2014 21
2015 21
2016 15
2017 19
2018 18
2019 7
2020 27
2021 41
2022 33
2023 21
2024 26
2025 23
2026 6

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366 results

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Page 1
Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.
Zink A, Dai DF, Wittich A, Henke MT, Pedrotti G, Heiduschka S, Santamaria G, Pentimalli TM, Brueser C, Notopoulou S, Umar AR, Zhaivoron A, Petersilie L, Jerred C, Bergmans J, Neu LA, Schumacher F, Keller-Findeisen J, Rybak-Wolf A, Stach D, Reinshagen J, Haferkamp U, Krieg K, Zaliani A, Euro L, Di Donfrancesco A, Santanatoglia C, Cappellozza E, Suarez Cubero M, Pavez-Giani M, Bakumenko O, Meierhofer D, Foley A, Morales-Gonzalez S, Tolle I, Herebian D, Bonesso D, Cecchetto G, Wong SN, Moresco M, Maresca A, Decimo I, De Sanctis F, Adamo A, Adjobo-Hermans MJW, Duchi R, Barandalla M, Scaglia M, Perota A, Galli C, Kleuser B, Cyganek L, Mühlhausen C, Schlotawa L, Tiranti V, Mayatepek E, Szabo I, La Morgia C, Klopstock T, Carelli V, Distelmaier F, Rossi A, Rajewsky N, Ullah G, Jakobs S, Rose CR, Petrakis S, Edenhofer F, Koopman WJH, Lisowski P, Suomalainen A, Brunetti D, Del Sol A, Bottani E, Pless O, Schuelke M, Prigione A. Zink A, et al. Among authors: carelli v. Cell. 2026 Mar 11:S0092-8674(26)00173-X. doi: 10.1016/j.cell.2026.02.008. Online ahead of print. Cell. 2026. PMID: 41819105 Free article.
Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstruction.
Boschetti E, Neri I, Caporali L, Bonora E, Malagelada C, Fiorini C, Ormanbekova D, Berghella A, D'Angelo R, Rinaldi R, Caliceti C, Costanzini A, Falconi M, Stanghellini V, Ratti S, Manzoli L, Carelli V, De Giorgio R. Boschetti E, et al. Among authors: carelli v. J Intern Med. 2026 Feb 27. doi: 10.1111/joim.70078. Online ahead of print. J Intern Med. 2026. PMID: 41755683
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
Lopriore P, Ünlütürk Z, Klopstock T, Karaa A, Rouzier C, Domínguez-González C, Lamperti C, Mancuso M; Twinkle-Related Disorders International Consortium for Trial Readiness (TReDIC); Cecchi G, Montano V, Siciliano G, Nicoletta V, Maioli M, Primiano G, Servidei S, La Morgia C, Carelli V, Valentino ML, Caporali L, Arena IG, Musumeci O, Lopergolo D, Malandrini A, Gallus GN, Filosto M, Bello L, Pegoraro E, Comi GP, Magri F, Ronchi D, Di Fonzo A, Percetti M, Azzimonti M, Büchner B, Prokisch H, Bermejo-Guerrero L, Procaccio V, Gaignard P, Echaniz-Laguna A, Schiff M, Rötig A, Toutain A, Paquis-Flucklinger V, Morel G, Robin S, Nadaj-Pakleza A, Chanson JB, Chaussenot A, Ait-El-Mkadem Saadi S, Trimouille A, Tranchant C, Salort-Campana E, Bieth E, Sacconi S, Duval F, Restrepo Vera JL, Molnar MJ, Vissing J, Haas R, Larson A, Enns GM, Parikh S, Goldstein A, Hirano M. Lopriore P, et al. Among authors: carelli v. Neurology. 2026 Feb 10;106(3):e214401. doi: 10.1212/WNL.0000000000214401. Epub 2026 Jan 15. Neurology. 2026. PMID: 41538773
OPA1 Deficiency Impairs NGF Signaling and Drives Sympathetic Neurodegeneration.
Ronfini M, Prando V, Di Mauro V, Dokshokova L, Lazzeri E, Costantini I, Alàn L, Riviere EA, Incensi A, Olianti C, La Morgia C, Liguori R, Sacconi L, Donadio V, Scorrano L, Carelli V, Mongillo M, Zaglia T. Ronfini M, et al. Among authors: carelli v. JACC Basic Transl Sci. 2026 Feb;11(2):101460. doi: 10.1016/j.jacbts.2025.101460. JACC Basic Transl Sci. 2026. PMID: 41733284 Free PMC article.
New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.
Muccioli L, Tappatà M, Farolfi A, Singh PK, Pasini E, Mazzone S, Esposito E, Motta L, D'Agati OM, Angeloni S, Caravelli A, Cancellerini C, Minardi R, Pizzi E, Carelli V, Tonon C, Fiori J, Gentry MS, Vignatelli L, Michelucci R, Bisulli F; DEFEAT-LD study group. Muccioli L, et al. Among authors: carelli v. Neurotherapeutics. 2026 Jan;23(1):e00808. doi: 10.1016/j.neurot.2025.e00808. Epub 2025 Nov 30. Neurotherapeutics. 2026. PMID: 41326286 Free PMC article.
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Fiorini C, Jurkute N, Torraco A, La Morgia C, Ghezzi D, Tioli G, Rigobello L, Ormanbekova D, Berghella A, Pietro Pasti A, Palombo F, Barboni P, Lucia Cascavilla M, Sadun F, De Negri A, Bertini E, Musumeci O, Ardissone A, Rizza T, Iarossi G, Silvestri G, Rossi S, Altobelli A, Moore AT, Cullup T, Webster AR, Davagnanam I, Michaelides M, Malka S, Ptackova H, Stufkova H, Tesarova M, Liskova P, Zeng L, Klopstock T, Kopajtich R, Neuhofer C, Prokisch H, Lamperti C, Sadun AA, Yu-Wai-Man P, Carelli V, Musiani F, Iommarini L, Carrozzo R, Arno G, Caporali L. Fiorini C, et al. Among authors: carelli v. Brain. 2025 Nov 14:awaf422. doi: 10.1093/brain/awaf422. Online ahead of print. Brain. 2025. PMID: 41234160
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant.
Avenali M, Artusi CA, Cilia R, Giannini G, Cuconato G, Albanese A, Golfrè Andreasi N, Antenucci P, Antonini A, Avanzino L, Baldelli L, Bentivoglio AR, Bove F, Bozzali M, Calandra-Buonaura G, Cani I, Carelli V, Cavallieri F, Cocco A, Cogiamanian F, Colucci F, Cortelli P, De Biase A, Di Biasio F, Di Fonzo A, D'Onofrio V, Eleopra R, Elia AE, Fioravanti V, Genovese D, Guerra A, Imarisio A, Ledda C, Liccari M, Longo C, Lopiano L, Malaguti MC, Malito R, Mameli F, Marino S, Minardi R, Mitrotti P, Monfrini E, Pacchetti C, Piano C, Rispoli V, Rizzone MG, Romito LM, Sambati L, Sensi M, Sorbera C, Spagnolo F, Tassorelli C, Valentino F, Valzania F, Zangaglia R, Zibetti M; Italian PARKNET Study Group; Valente EM. Avenali M, et al. Among authors: carelli v. Neurology. 2025 Nov 11;105(9):e214036. doi: 10.1212/WNL.0000000000214036. Epub 2025 Oct 22. Neurology. 2025. PMID: 41124650 Free PMC article.
366 results