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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 … See abstract for full author list ➔ van Rheenen W, et al. Among authors: padovani a. 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.
Mitochondrial DNA-related disorders.
Mancuso M, Filosto M, Choub A, Tentorio M, Broglio L, Padovani A, Siciliano G. Mancuso M, et al. Among authors: padovani a. Biosci Rep. 2007 Jun;27(1-3):31-7. doi: 10.1007/s10540-007-9035-2. Biosci Rep. 2007. PMID: 17484046 Review.
Neuropathology of mitochondrial diseases.
Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A. Filosto M, et al. Among authors: padovani a. Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. Biosci Rep. 2007. PMID: 17541738 Review.
Current options in the treatment of mitochondrial diseases.
Scarpelli M, Cotelli MS, Mancuso M, Tomelleri G, Tonin P, Baronchelli C, Vielmi V, Gregorelli V, Todeschini A, Padovani A, Filosto M. Scarpelli M, et al. Among authors: padovani a. Recent Pat CNS Drug Discov. 2010 Nov;5(3):203-9. doi: 10.2174/157488910793362412. Recent Pat CNS Drug Discov. 2010. PMID: 20722626 Review.
Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.
Borroni B, Bonvicini C, Galimberti D, Tremolizzo L, Papetti A, Archetti S, Turla M, Alberici A, Agosti C, Premi E, Appollonio I, Rainero I, Ferrarese C, Gennarelli M, Scarpini E, Padovani A. Borroni B, et al. Among authors: padovani a. Neurobiol Aging. 2011 Mar;32(3):555.e1-8. doi: 10.1016/j.neurobiolaging.2010.08.009. Epub 2010 Oct 13. Neurobiol Aging. 2011. PMID: 20947212
Involvement of the central nervous system myelin in a POEMS patient.
Broglio L, Cotelli MS, Cattaneo C, Rossi G, Tentorio M, Gregorelli V, Vielmi V, Todeschini A, Benelle M, Padovani A, Filosto M. Broglio L, et al. Among authors: padovani a. Clin Neurol Neurosurg. 2011 Feb;113(2):164-6. doi: 10.1016/j.clineuro.2010.10.005. Epub 2010 Nov 5. Clin Neurol Neurosurg. 2011. PMID: 21056536 No abstract available.
Limb-girdle muscular dystrophy-associated protein diseases.
Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Broglio L, et al. Among authors: padovani a. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39. Neurologist. 2010. PMID: 21150381 Review.
The role of mitochondria in neurodegenerative diseases.
Filosto M, Scarpelli M, Cotelli MS, Vielmi V, Todeschini A, Gregorelli V, Tonin P, Tomelleri G, Padovani A. Filosto M, et al. Among authors: padovani a. J Neurol. 2011 Oct;258(10):1763-74. doi: 10.1007/s00415-011-6104-z. Epub 2011 May 22. J Neurol. 2011. PMID: 21604203 Review.
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