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Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
Zambon AA, Ghezzi D, Baldoli C, Cutillo G, Fontana K, Sofia V, Patricelli MG, Nasca A, Vinci S, Spiga I, Lamantea E, Fanelli GF, Sora MGN, Rovelli R, Poloniato A, Carrera P, Filippi M, Barera G. Zambon AA, et al. Among authors: carrera p. Ann Clin Transl Neurol. 2023 Oct;10(10):1844-1853. doi: 10.1002/acn3.51876. Epub 2023 Aug 29. Ann Clin Transl Neurol. 2023. PMID: 37644805 Free PMC article.
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P, Marzinotto I, Bonfanti R, Massimino L, Calzavara S, Favellato Μ, Jofra T, De Giglio V, Bonura C, Stabilini A, Favalli V, Bondesan S, Cicalese MP, Laurenzi A, Caretto A, Frontino G, Rigamonti A, Molinari C, Scavini M, Sandullo F, Zapparoli E, Caridi N, Bonfiglio S, Castorani V, Ungaro F, Petrelli A, Barera G, Aiuti A, Bosi E, Battaglia M, Piemonti L, Lampasona V, Fousteri G. Carrera P, et al. Diabetologia. 2023 Apr;66(4):695-708. doi: 10.1007/s00125-022-05865-5. Epub 2023 Jan 24. Diabetologia. 2023. PMID: 36692510
Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia-clinical features and neuroimaging correlates.
Ghirelli A, Spinelli EG, Canu E, Domi T, Basaia S, Castelnovo V, Pozzi L, Magnani G, Caso F, Caroppo P, Prioni S, Villa C, Riva N, Quattrini A, Carrera P, Filippi M, Agosta F. Ghirelli A, et al. Among authors: carrera p. J Neurol. 2023 Oct;270(10):5102-5109. doi: 10.1007/s00415-023-11839-3. Epub 2023 Jun 29. J Neurol. 2023. PMID: 37382630 Free PMC article. No abstract available.
A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report.
Castelnovo V, Canu E, Domi T, Pozzi L, Vignaroli F, Spinelli EG, Ghirelli A, Tondo G, Comi C, Riva N, Quattrini A, Carrera P, Filippi M, Agosta F. Castelnovo V, et al. Among authors: carrera p. Front Neurosci. 2023 Jun 13;17:1204504. doi: 10.3389/fnins.2023.1204504. eCollection 2023. Front Neurosci. 2023. PMID: 37383099 Free PMC article.
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G, Sorgente A, Alfano M, Pipitone GB, Boeri L, Pozzi E, Belladelli F, Pederzoli F, Ferrara AM, Montorsi F, Moles A, Carrera P, Salonia A, Casari G. Quarantani G, et al. Among authors: carrera p. PLoS One. 2023 Aug 4;18(8):e0288336. doi: 10.1371/journal.pone.0288336. eCollection 2023. PLoS One. 2023. PMID: 37540677 Free PMC article.
303 results