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TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.
Borroni B, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Pietro Comi G, Gennarelli M, Padovani A. Borroni B, et al. Among authors: Gennarelli M. Rejuvenation Res. 2010 Oct;13(5):509-17. doi: 10.1089/rej.2010.1017. Epub 2010 Jul 20. Rejuvenation Res. 2010. PMID: 20645878
Serum leptin levels are higher in females affected by frontotemporal lobar degeneration than Alzheimer's disease.
Alberici A, Bocchio L, Geroldi C, Zanardini R, Bonomini C, Bugari G, Iacobello C, Caimi L, Gennarelli M, Zanetti O, Valerio A, Nisoli E, Borroni B, Padovani A. Alberici A, et al. Among authors: Gennarelli M. J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):712-5. doi: 10.1136/jnnp.2007.137026. Epub 2008 Feb 1. J Neurol Neurosurg Psychiatry. 2008. PMID: 18245138
Genetic background predicts poor prognosis in frontotemporal lobar degeneration.
Borroni B, Grassi M, Archetti S, Papetti A, Del Bo R, Bonvicini C, Comi GP, Gennarelli M, Bellelli G, Di Luca M, Padovani A. Borroni B, et al. Among authors: Gennarelli M. Neurodegener Dis. 2011;8(5):289-95. doi: 10.1159/000322790. Epub 2011 Feb 11. Neurodegener Dis. 2011. PMID: 21311163
Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.
Borroni B, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti A, Stuani C, Di Luca M, Gennarelli M, Padovani A. Borroni B, et al. Among authors: Gennarelli M. Hum Mutat. 2009 Nov;30(11):E974-83. doi: 10.1002/humu.21100. Hum Mutat. 2009. PMID: 19655382
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: Gennarelli M. 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
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.
Bocchetta M, Mega A, Bernardi L, Di Maria E, Benussi L, Binetti G, Borroni B, Colao R, Di Fede G, Fostinelli S, Galimberti D, Gennarelli M, Ghidoni R, Piaceri I, Pievani M, Porteri C, Redaelli V, Rossi G, Suardi S, Babiloni C, Scarpini E, Tagliavini F, Padovani A, Nacmias B, Sorbi S, Frisoni GB, Bruni AC; SINdem Collaborators. Bocchetta M, et al. Among authors: Gennarelli M. J Alzheimers Dis. 2016;51(1):277-91. doi: 10.3233/JAD-150849. J Alzheimers Dis. 2016. PMID: 26901402 Clinical Trial.
Molecular signature of disease onset in granulin mutation carriers: a gene expression analysis study.
Milanesi E, Bonvicini C, Alberici A, Pilotto A, Cattane N, Premi E, Gazzina S, Archetti S, Gasparotti R, Cancelli V, Gennarelli M, Padovani A, Borroni B. Milanesi E, et al. Among authors: Gennarelli M. Neurobiol Aging. 2013 Jul;34(7):1837-45. doi: 10.1016/j.neurobiolaging.2012.11.016. Epub 2013 Feb 15. Neurobiol Aging. 2013. PMID: 23419701
Heterozygous TREM2 mutations in frontotemporal dementia.
Borroni B, Ferrari F, Galimberti D, Nacmias B, Barone C, Bagnoli S, Fenoglio C, Piaceri I, Archetti S, Bonvicini C, Gennarelli M, Turla M, Scarpini E, Sorbi S, Padovani A. Borroni B, et al. Among authors: Gennarelli M. Neurobiol Aging. 2014 Apr;35(4):934.e7-10. doi: 10.1016/j.neurobiolaging.2013.09.017. Epub 2013 Oct 16. Neurobiol Aging. 2014. PMID: 24139279
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