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TDP-43 redistribution is an early event in sporadic amyotrophic lateral sclerosis.
Giordana MT, Piccinini M, Grifoni S, De Marco G, Vercellino M, Magistrello M, Pellerino A, Buccinnà B, Lupino E, Rinaudo MT. Giordana MT, et al. Among authors: de marco g. Brain Pathol. 2010 Mar;20(2):351-60. doi: 10.1111/j.1750-3639.2009.00284.x. Epub 2009 Mar 17. Brain Pathol. 2010. PMID: 19338576 Free PMC article.
Reduced cellular Ca(2+) availability enhances TDP-43 cleavage by apoptotic caspases.
De Marco G, Lomartire A, Mandili G, Lupino E, Buccinnà B, Ramondetti C, Moglia C, Novelli F, Piccinini M, Mostert M, Rinaudo MT, Chiò A, Calvo A. De Marco G, et al. Biochim Biophys Acta. 2014 Apr;1843(4):725-34. doi: 10.1016/j.bbamcr.2014.01.010. Epub 2014 Jan 16. Biochim Biophys Acta. 2014. PMID: 24440855 Free article.
A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms.
Canosa A, De Marco G, Lomartire A, Rinaudo MT, Di Cunto F, Turco E, Barberis M, Brunetti M, Casale F, Moglia C, Calvo A, Marklund SL, Andersen PM, Mora G, Chiò A. Canosa A, et al. Among authors: de marco g. Neurobiol Aging. 2018 Dec;72:189.e11-189.e17. doi: 10.1016/j.neurobiolaging.2018.08.014. Epub 2018 Aug 24. Neurobiol Aging. 2018. PMID: 30236613 Free article.
The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.
Lanteri P, Meola I, Canosa A, De Marco G, Lomartire A, Rinaudo MT, Albamonte E, Sansone VA, Lunetta C, Manera U, Vasta R, Moglia C, Calvo A, Origone P, Chiò A, Mandich P. Lanteri P, et al. Among authors: de marco g. Neurobiol Aging. 2021 Jul;103:130.e1-130.e7. doi: 10.1016/j.neurobiolaging.2021.01.029. Epub 2021 Feb 3. Neurobiol Aging. 2021. PMID: 33637330
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
467 results