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Page 1
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.
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.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
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. Fiorini C, et al. Among authors: valentino ml. Brain. 2023 Sep 1;146(9):e67-e70. doi: 10.1093/brain/awad080. Brain. 2023. PMID: 36913248 Free PMC article. No abstract available.
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
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. Amore G, et al. Among authors: valentino ml. J Neurol. 2023 Jan;270(1):559-564. doi: 10.1007/s00415-022-11355-w. Epub 2022 Sep 6. J Neurol. 2023. PMID: 36066624 Free PMC article. No abstract available.
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
Montano V, Lopriore P, Gruosso F, Carelli V, Comi GP, Filosto M, Lamperti C, Mongini T, Musumeci O, Servidei S, Tonin P, Toscano A, Primiano G, Valentino ML, Bortolani S, Marchet S, Ricci G, Modenese A, Cotti Piccinelli S, Risi B, Meneri M, Arena IG, Siciliano G, Mancuso M. Montano V, et al. Among authors: valentino ml. J Neurol. 2022 Dec;269(12):6555-6565. doi: 10.1007/s00415-022-11324-3. Epub 2022 Aug 18. J Neurol. 2022. PMID: 35980466 Free PMC article.
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
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. Misic J, et al. Among authors: valentino ml. Nucleic Acids Res. 2022 Aug 26;50(15):8749-8766. doi: 10.1093/nar/gkac661. Nucleic Acids Res. 2022. PMID: 35947649 Free PMC article.
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
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. Percetti M, et al. Among authors: valentino ml. Mov Disord. 2022 Sep;37(9):1938-1943. doi: 10.1002/mds.29139. Epub 2022 Jul 6. Mov Disord. 2022. PMID: 35792653 Free PMC article.
123 results