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

Year Number of Results
1985 1
1986 1
1987 1
1988 1
1996 1
1997 2
1998 1
2000 2
2001 1
2002 5
2003 2
2004 3
2005 3
2006 7
2007 10
2008 7
2009 5
2010 7
2011 5
2012 6
2013 8
2014 7
2015 11
2016 4
2017 3
2018 4
2019 2
2020 7
2021 6
2022 10
2023 4
2024 3
2025 5

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130 results

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Page 1
Mitochondrial diseases in adults.
La Morgia C, Maresca A, Caporali L, Valentino ML, Carelli V. La Morgia C, et al. Among authors: valentino ml. J Intern Med. 2020 Jun;287(6):592-608. doi: 10.1111/joim.13064. J Intern Med. 2020. PMID: 32463135 Free article. Review.
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.
Capasso A, Cicala G, Ricci M, Pane M, D'Amico A, Bruno C, Sansone VA, Messina S, Bello L, Pegoraro E, D'Angelo MG, Masson R, Berardinelli A, Pini A, Ricci F, Mongini TE, Coccia M, Nigro V, Trabacca A, Filosto M, Comi G, Magri F, Barp A, Battini R, Previtali SC, Valentino ML, Diella E, Dosi C, Ruggiero L, Siciliano G, Ricci G, Catteruccia M, Arpaia C, Coratti G, Norcia G, Bonanno S, Verriello L, Agosto C, Varone A, Ferlini A, Maioli MA, Brogna C, Siliquini S, Bruno I, Panicucci C, Allegra C, Albamonte E, Mercuri E; Italian DMD group. Capasso A, et al. Among authors: valentino ml. Eur J Pediatr. 2024 Dec 16;184(1):86. doi: 10.1007/s00431-024-05903-x. Eur J Pediatr. 2024. PMID: 39680193
Incomplete penetrance in mitochondrial optic neuropathies.
Caporali L, Maresca A, Capristo M, Del Dotto V, Tagliavini F, Valentino ML, La Morgia C, Carelli V. Caporali L, et al. Among authors: valentino ml. Mitochondrion. 2017 Sep;36:130-137. doi: 10.1016/j.mito.2017.07.004. Epub 2017 Jul 14. Mitochondrion. 2017. PMID: 28716668 Review.
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone YM, Pugliese A, Primiano G, Sancricca C, Lopergolo D, Greco G, Gemelli C, Ravaglia S, Bencivenga RP, Velardo D, Magri F, Valentino ML, Cheli M, Torchia E, Lucchini M, Petrucci A, Ricci G, Garibaldi M, Astrea G, Rubegni A, Angelini CI, Ariatti A, Santorelli FM, Ruggieri A, Antonini G, Siciliano G, Filosto M, Mirabella M, Liguori R, Comi GP, Ruggiero L, Grandis M, Massa R, Malandrini A, Servidei S, Mongini TE, Rodolico C, Toscano A, Previtali SC, Tonin P, Diaz-Manera J, Monforte M, Ricci E, Maggi L, Tasca G. Bortolani S, et al. Among authors: valentino ml. Neurology. 2024 Aug 27;103(4):e209697. doi: 10.1212/WNL.0000000000209697. Epub 2024 Aug 5. Neurology. 2024. PMID: 39102614
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: valentino ml. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form.
Ricci G, Torri F, Ruggiero L, Vercelli L, Gadaleta G, Rolle E, Risi B, Carraro E, Evangelista T, Bugiardini E, Dubuisson N, Voermans N, Siciliano G, Mongini T, Filosto M; Italian Clinical Network for FSHD. Ricci G, et al. Neurol Sci. 2025 Sep;46(9):4633-4643. doi: 10.1007/s10072-025-08276-7. Epub 2025 Jun 13. Neurol Sci. 2025. PMID: 40506648
Myoclonus in mitochondrial disorders.
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: valentino ml. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7. Mov Disord. 2014. PMID: 24510442
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.
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. Tropeano CV, et al. Among authors: valentino ml. Int J Mol Sci. 2025 Jan 27;26(3):1116. doi: 10.3390/ijms26031116. Int J Mol Sci. 2025. PMID: 39940884 Free PMC article.
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
Maresca A, la Morgia C, Caporali L, Valentino ML, Carelli V. Maresca A, et al. Among authors: valentino ml. Mol Cell Neurosci. 2013 Jul;55(100):62-76. doi: 10.1016/j.mcn.2012.08.004. Epub 2012 Aug 15. Mol Cell Neurosci. 2013. PMID: 22960139 Free PMC article. Review.
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.
Southwell N, Primiano G, Nadkarni V, Attarwala N, Beattie E, Miller D, Alam S, Liparulo I, Shurubor YI, Valentino ML, Carelli V, Servidei S, Gross SS, Manfredi G, Chen Q, D'Aurelio M. Southwell N, et al. Among authors: valentino ml. EMBO Mol Med. 2023 Jul 10;15(7):e16951. doi: 10.15252/emmm.202216951. Epub 2023 May 24. EMBO Mol Med. 2023. PMID: 37222423 Free PMC article.
130 results