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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: filosto m. 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.
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
Mancuso M, Conforti FL, Rocchi A, Tessitore A, Muglia M, Tedeschi G, Panza D, Monsurrò M, Sola P, Mandrioli J, Choub A, DelCorona A, Manca ML, Mazzei R, Sprovieri T, Filosto M, Salviati A, Valentino P, Bono F, Caracciolo M, Simone IL, La Bella V, Majorana G, Siciliano G, Murri L, Quattrone A. Mancuso M, et al. Among authors: filosto m. Neurosci Lett. 2004 Nov 23;371(2-3):158-62. doi: 10.1016/j.neulet.2004.08.060. Neurosci Lett. 2004. PMID: 15519748
Mitochondrial DNA-related disorders.
Mancuso M, Filosto M, Choub A, Tentorio M, Broglio L, Padovani A, Siciliano G. Mancuso M, et al. Among authors: filosto m. 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. Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. Biosci Rep. 2007. PMID: 17541738 Review.
Mitochondrial DNA sequence variation and neurodegeneration.
Mancuso M, Filosto M, Orsucci D, Siciliano G. Mancuso M, et al. Among authors: filosto m. Hum Genomics. 2008 Sep;3(1):71-8. doi: 10.1186/1479-7364-3-1-71. Hum Genomics. 2008. PMID: 19129091 Free PMC article. 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: filosto m. Recent Pat CNS Drug Discov. 2010 Nov;5(3):203-9. doi: 10.2174/157488910793362412. Recent Pat CNS Drug Discov. 2010. PMID: 20722626 Review.
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: filosto m. 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.
247 results