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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: lomartire a. 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
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: lomartire a. 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.
A novel splice site FUS mutation in a familial ALS case: effects on protein expression.
Canosa A, Lomartire A, De Marco G, Grassano M, Brunetti M, Manera U, Vasta R, Salamone P, Fuda G, Sbaiz L, Gallone S, Moglia C, Calvo A, Chiò A. Canosa A, et al. Among authors: lomartire a. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):128-136. doi: 10.1080/21678421.2021.1909065. Epub 2021 Apr 21. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 33879000
Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.
De Marco G, Lomartire A, Calvo A, Risso A, De Luca E, Mostert M, Mandrioli J, Caponnetto C, Borghero G, Manera U, Canosa A, Moglia C, Restagno G, Fini N, Tarella C, Giordana MT, Rinaudo MT, Chiò A. De Marco G, et al. Among authors: lomartire a. Neuropathol Appl Neurobiol. 2017 Feb;43(2):133-153. doi: 10.1111/nan.12328. Epub 2016 Jun 28. Neuropathol Appl Neurobiol. 2017. PMID: 27178390
G-CSF (filgrastim) treatment for amyotrophic lateral sclerosis: protocol for a phase II randomised, double-blind, placebo-controlled, parallel group, multicentre clinical study (STEMALS-II trial).
Salamone P, Fuda G, Casale F, Marrali G, Lunetta C, Caponnetto C, Mazzini L, La Bella V, Mandrioli J, Simone IL, Moglia C, Calvo A, Tarella C, Chio A; STEMALS-II Study Group. Salamone P, et al. BMJ Open. 2020 Mar 24;10(3):e034049. doi: 10.1136/bmjopen-2019-034049. BMJ Open. 2020. PMID: 32209625 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. Among authors: lomartire a. 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.
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