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A genome-wide association study of myasthenia gravis.
Renton AE, Pliner HA, Provenzano C, Evoli A, Ricciardi R, Nalls MA, Marangi G, Abramzon Y, Arepalli S, Chong S, Hernandez DG, Johnson JO, Bartoccioni E, Scuderi F, Maestri M, Gibbs JR, Errichiello E, Chiò A, Restagno G, Sabatelli M, Macek M, Scholz SW, Corse A, Chaudhry V, Benatar M, Barohn RJ, McVey A, Pasnoor M, Dimachkie MM, Rowin J, Kissel J, Freimer M, Kaminski HJ, Sanders DB, Lipscomb B, Massey JM, Chopra M, Howard JF Jr, Koopman WJ, Nicolle MW, Pascuzzi RM, Pestronk A, Wulf C, Florence J, Blackmore D, Soloway A, Siddiqi Z, Muppidi S, Wolfe G, Richman D, Mezei MM, Jiwa T, Oger J, Drachman DB, Traynor BJ. Renton AE, et al. Among authors: errichiello e. JAMA Neurol. 2015 Apr;72(4):396-404. doi: 10.1001/jamaneurol.2014.4103. JAMA Neurol. 2015. PMID: 25643325 Free PMC article.
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Among authors: errichiello e. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9. Neurobiol Aging. 2016. PMID: 27156075 Free PMC article.
A Data Fusion Approach to Enhance Association Study in Epilepsy.
Marini S, Limongelli I, Rizzo E, Malovini A, Errichiello E, Vetro A, Da T, Zuffardi O, Bellazzi R. Marini S, et al. Among authors: errichiello e. PLoS One. 2016 Dec 16;11(12):e0164940. doi: 10.1371/journal.pone.0164940. eCollection 2016. PLoS One. 2016. PMID: 27984588 Free PMC article.
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Errichiello E, Vetro A, Mina T, Wischmeijer A, Berrino E, Carella M, Romagnoli M, Sacchini P, Venesio T, Zecca M, Zuffardi O. Errichiello E, et al. Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6. Blood Cells Mol Dis. 2017. PMID: 28376382 Free PMC article.
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC. Kurtas N, et al. Among authors: errichiello e. J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29. J Med Genet. 2018. PMID: 29378768 Free PMC article.
45 results