Massa V - Search Results

1

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M. Massa V, et al. Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22. Am J Hum Genet. 2008. PMID: 18499082 Free PMC article.

2

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.

Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M. Viscomi C, et al. Among authors: massa v. Hum Mol Genet. 2009 Jan 1;18(1):12-26. doi: 10.1093/hmg/ddn309. Epub 2008 Sep 24. Hum Mol Genet. 2009. PMID: 18818194 Free PMC article.

3

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians.

Spinazzola A, Massa V, Hirano M, Zeviani M. Spinazzola A, et al. Among authors: massa v. Neuromuscul Disord. 2008 Apr;18(4):315-8. doi: 10.1016/j.nmd.2007.12.007. Epub 2008 Feb 7. Neuromuscul Disord. 2008. PMID: 18261905

4

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Castiglioni S, Pezzoli L, Pezzani L, Lettieri A, Di Fede E, Cereda A, Ancona S, Gallina A, Colombo EA, Parodi C, Grazioli P, Taci E, Milani D, Iascone M, Massa V, Gervasini C. Castiglioni S, et al. Among authors: massa v. Orphanet J Rare Dis. 2024 Dec 20;19(1):481. doi: 10.1186/s13023-024-03507-0. Orphanet J Rare Dis. 2024. PMID: 39707491 Free PMC article.

5

Network meta-analysis of adjuvant chemotherapy in biliary tract cancers: Setting the scene for new randomized evidence.

Salani F, Vetere G, Rossini D, Genovesi V, Carullo M, Bartalini L, Massa V, Bernardini L, Caccese M, Cesario S, Graziani J, Grelli G, Mangogna F, Vivaldi C, Masi G, Fornaro L. Salani F, et al. Among authors: massa v. Liver Int. 2024 Oct;44(10):2763-2772. doi: 10.1111/liv.16047. Epub 2024 Jul 29. Liver Int. 2024. PMID: 39072988

6

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.

Avagliano L, Castiglioni S, Lettieri A, Parodi C, Di Fede E, Taci E, Grazioli P, Colombo EA, Gervasini C, Massa V. Avagliano L, et al. Among authors: massa v. Birth Defects Res. 2024 Jul;116(7):e2383. doi: 10.1002/bdr2.2383. Birth Defects Res. 2024. PMID: 38984779 Review.

7

Extracellular vesicles from II trimester human amniotic fluid as paracrine conveyors counteracting oxidative stress.

Senesi G, Guerricchio L, Ghelardoni M, Bertola N, Rebellato S, Grinovero N, Bartolucci M, Costa A, Raimondi A, Grange C, Bolis S, Massa V, Paladini D, Coviello D, Pandolfi A, Bussolati B, Petretto A, Fazio G, Ravera S, Barile L, Balbi C, Bollini S. Senesi G, et al. Among authors: massa v. Redox Biol. 2024 Sep;75:103241. doi: 10.1016/j.redox.2024.103241. Epub 2024 Jun 17. Redox Biol. 2024. PMID: 38901103 Free PMC article.

8

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.

Di Fede E, Lettieri A, Taci E, Castiglioni S, Rebellato S, Parodi C, Colombo EA, Grazioli P, Natacci F, Marchisio P, Pezzani L, Fazio G, Milani D, Massa V, Gervasini C. Di Fede E, et al. Among authors: massa v. Hum Genet. 2024 Jun;143(6):747-759. doi: 10.1007/s00439-024-02675-0. Epub 2024 May 16. Hum Genet. 2024. PMID: 38753158 Free PMC article.

9

Dabrafenib-trametinib in BRAF V600-mutated non-small-cell lung cancer: a single center real world experience.

Sbrana A, Cappelli S, Petrini I, Bernardini L, Massa V, Carrozzi L, Chella A. Sbrana A, et al. Among authors: massa v. Future Oncol. 2024;20(24):1745-1751. doi: 10.1080/14796694.2024.2340898. Epub 2024 May 6. Future Oncol. 2024. PMID: 38709118 Free PMC article.

10

SMC1A epilepsy syndrome: clinical data from a large international cohort.

Gibellato E, Cianci P, Mariani M, Parma B, Huisman S, Śmigiel R, Bisgaard AM, Massa V, Gervasini C, Moretti A, Cattoni A, Biondi A, Selicorni A. Gibellato E, et al. Among authors: massa v. Am J Med Genet A. 2024 Jul;194(7):e63577. doi: 10.1002/ajmg.a.63577. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421079

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