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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
Author Correction: 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. 2022 Mar;54(3):361. doi: 10.1038/s41588-022-01020-3. Nat Genet. 2022. PMID: 35102318 Free PMC article. No abstract available.
Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.
Beghi E, Pupillo E, Bianchi E, Bonetto V, Luotti S, Pasetto L, Bendotti C, Tortarolo M, Sironi F, Camporeale L, Sherman AV, Paganoni S, Scognamiglio A, De Marchi F, Bongioanni P, Del Carratore R, Caponnetto C, Diamanti L, Martinelli D, Calvo A, Filosto M, Padovani A, Piccinelli SC, Ricci C, Dalla Giacoma S, De Angelis N, Inghilleri M, Spataro R, La Bella V, Logroscino G, Lunetta C, Tarlarini C, Mandrioli J, Martinelli I, Simonini C, Zucchi E, Monsurrò MR, Ricciardi D, Trojsi F, Riva N, Filippi M, Simone IL, Sorarù G, Spera C, Florio L, Messina S, Russo M, Siciliano G, Conte A, Saddi MV, Carboni N, Mazzini L; RNS60-ALS Study Group. Beghi E, et al. Eur J Neurol. 2023 Jan;30(1):69-86. doi: 10.1111/ene.15573. Epub 2022 Oct 7. Eur J Neurol. 2023. PMID: 36148821 Free PMC article. Clinical Trial.
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