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109 results

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Page 1
ADA2 deficiency due to a novel structural variation in 22q11.1.
Grossi A, Cusano R, Rusmini M, Penco F, Schena F, Podda RA, Caorsi R, Gattorno M, Uva P, Ceccherini I. Grossi A, et al. Among authors: uva p. Clin Genet. 2019 Jun;95(6):732-733. doi: 10.1111/cge.13518. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30920658 No abstract available.
In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott-Aldrich Syndrome Protein-Deficient B Cells.
Castiello MC, Pala F, Sereni L, Draghici E, Inverso D, Sauer AV, Schena F, Fontana E, Radaelli E, Uva P, Cervantes-Luevano KE, Benvenuti F, Poliani PL, Iannacone M, Traggiai E, Villa A, Bosticardo M. Castiello MC, et al. Among authors: uva p. Front Immunol. 2017 May 2;8:490. doi: 10.3389/fimmu.2017.00490. eCollection 2017. Front Immunol. 2017. PMID: 28512459 Free PMC article.
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.
Angius A, Cossu S, Uva P, Oppo M, Onano S, Persico I, Fotia G, Atzeni R, Cuccuru G, Asunis M, Cucca F, Pruna D, Crisponi L. Angius A, et al. Among authors: uva p. Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29399786
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.
Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR, Uva P, Grossi A, Lanino E, Faraci M, Minoia F, Signa S, Picco P, Martini A, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: uva p. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L. Angius A, et al. Among authors: uva p. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30859550
Gut Microbiota and Metabolome Alterations Associated with Parkinson's Disease.
Vascellari S, Palmas V, Melis M, Pisanu S, Cusano R, Uva P, Perra D, Madau V, Sarchioto M, Oppo V, Simola N, Morelli M, Santoru ML, Atzori L, Melis M, Cossu G, Manzin A. Vascellari S, et al. Among authors: uva p. mSystems. 2020 Sep 15;5(5):e00561-20. doi: 10.1128/mSystems.00561-20. mSystems. 2020. PMID: 32934117 Free PMC article.
Gut microbiota and metabolome distinctive features in Parkinson disease: Focus on levodopa and levodopa-carbidopa intrajejunal gel.
Melis M, Vascellari S, Santoru ML, Oppo V, Fabbri M, Sarchioto M, Murgia D, Zibetti M, Lopiano L, Serra A, Palmas V, Pisanu S, Perra D, Madau V, Cusano R, Uva P, Mereu A, Contu P, Morelli M, Atzori L, Melis M, Manzin A, Cossu G. Melis M, et al. Among authors: uva p. Eur J Neurol. 2021 Apr;28(4):1198-1209. doi: 10.1111/ene.14644. Epub 2020 Dec 16. Eur J Neurol. 2021. PMID: 33185912 Free article.
109 results