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O056. Migraine as presenting symptom of SLC20A2gene mutations.
Rubino E, Giorgio E, Rainero I, Ferrero P, Gallone S, Govone F, Pinessi L, Orsi L, Duca S, Brusco A. Rubino E, et al. Among authors: giorgio e. J Headache Pain. 2015 Dec;16(Suppl 1):A121. doi: 10.1186/1129-2377-16-S1-A121. J Headache Pain. 2015. PMID: 28132267 Free PMC article. No abstract available.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Mancini C, Hoxha E, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolò V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Riberi E, Casari G, Altruda F, Turco E, Gasparre G, Battersby BJ, Porcelli AM, Ferrero E, Brusco A, Tempia F. Mancini C, et al. Among authors: giorgio e. Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30. Neurobiol Dis. 2019. PMID: 30389403 Free article.
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study.
Rubino E, Boschi S, Giorgio E, Pozzi E, Marcinnò A, Gallo E, Roveta F, Grassini A, Brusco A, Rainero I. Rubino E, et al. Among authors: giorgio e. Neurobiol Pain. 2022 Apr 2;11:100089. doi: 10.1016/j.ynpai.2022.100089. eCollection 2022 Jan-Jul. Neurobiol Pain. 2022. PMID: 35445161 Free PMC article.
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Giorgio E, Vaula G, Benna P, Lo Buono N, Eandi CM, Dino D, Mancini C, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Giordana MT, Depienne C, Brusco A. Giorgio E, et al. J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4. J Neurol Neurosurg Psychiatry. 2017. PMID: 28473625 Free article. No abstract available.
Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment.
Di Maria E, Giorgio E, Uliana V, Bonvicini C, Faravelli F, Cammarata S, Novello MC, Galimberti D, Scarpini E, Zanetti O, Gennarelli M, Tabaton M. Di Maria E, et al. Among authors: giorgio e. J Alzheimers Dis. 2012;29(3):699-705. doi: 10.3233/JAD-2012-112006. J Alzheimers Dis. 2012. PMID: 22330829 Free article.
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A. Giorgio E, et al. J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7. J Neurol Sci. 2015. PMID: 25873210 Free article.
189 results