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Strategies for treating mitochondrial disorders: an update.
Scarpelli M, Todeschini A, Rinaldi F, Rota S, Padovani A, Filosto M. Scarpelli M, et al. Among authors: rinaldi f. Mol Genet Metab. 2014 Dec;113(4):253-60. doi: 10.1016/j.ymgme.2014.09.013. Epub 2014 Oct 8. Mol Genet Metab. 2014. PMID: 25458518 Review.
Late-Onset Glycogen Storage Disease Type 2.
Filosto M, Cotelli MS, Vielmi V, Todeschini A, Rinaldi F, Rota S, Scarpelli M, Padovani A. Filosto M, et al. Among authors: rinaldi f. Curr Mol Med. 2014;14(8):971-978. doi: 10.2174/1566524014666141010131649. Curr Mol Med. 2014. PMID: 25323875
Non-muscle involvement in late-onset glycogenosis II.
Filosto M, Todeschini A, Cotelli MS, Vielmi V, Rinaldi F, Rota S, Scarpelli M, Padovani A. Filosto M, et al. Among authors: rinaldi f. Acta Myol. 2013 Oct;32(2):91-4. Acta Myol. 2013. PMID: 24399865 Free PMC article. Review.
A very slowly progressive neurogenic 'man-in-the-barrel' syndrome.
Rinaldi F, Todeschini A, Rota S, Pari E, Padovani A, Filosto M. Rinaldi F, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):425-6. doi: 10.3109/21678421.2015.1009118. Epub 2015 Feb 24. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25707269 No abstract available.
Very late-onset friedreich ataxia with laryngeal dystonia.
Rota S, Marchina E, Todeschini A, Nanetti L, Rinaldi F, Vanotti A, Mariotti C, Padovani A, Filosto M. Rota S, et al. Among authors: rinaldi f. Case Rep Neurol. 2014 Dec 12;6(3):287-90. doi: 10.1159/000370062. eCollection 2014 Sep-Dec. Case Rep Neurol. 2014. PMID: 25685137 Free PMC article.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
525 results