Goffrini P - Search Results

1

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW. Alston CL, et al. Among authors: goffrini p. Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26. Hum Genet. 2015. PMID: 26008905 Free PMC article.

2

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor.

Goffrini P, Ercolino T, Panizza E, Giachè V, Cavone L, Chiarugi A, Dima V, Ferrero I, Mannelli M. Goffrini P, et al. Hum Mol Genet. 2009 May 15;18(10):1860-8. doi: 10.1093/hmg/ddp102. Epub 2009 Mar 4. Hum Mol Genet. 2009. PMID: 19261679

3

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Tuppen HA, et al. Among authors: goffrini p. Mol Genet Metab. 2010 Aug;100(4):345-8. doi: 10.1016/j.ymgme.2010.04.010. Epub 2010 Apr 24. Mol Genet Metab. 2010. PMID: 20472482

4

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW. Alston CL, et al. Among authors: goffrini p. J Med Genet. 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146. J Med Genet. 2012. PMID: 22972948 Free PMC article.

5

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

Panizza E, Ercolino T, Mori L, Rapizzi E, Castellano M, Opocher G, Ferrero I, Neumann HP, Mannelli M, Goffrini P. Panizza E, et al. Among authors: goffrini p. Hum Mol Genet. 2013 Feb 15;22(4):804-15. doi: 10.1093/hmg/dds487. Epub 2012 Nov 21. Hum Mol Genet. 2013. PMID: 23175444

6

DNA polymerase γ and disease: what we have learned from yeast.

Lodi T, Dallabona C, Nolli C, Goffrini P, Donnini C, Baruffini E. Lodi T, et al. Among authors: goffrini p. Front Genet. 2015 Mar 17;6:106. doi: 10.3389/fgene.2015.00106. eCollection 2015. Front Genet. 2015. PMID: 25852747 Free PMC article. Review.

7

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy.

Nolli C, Goffrini P, Lazzaretti M, Zanna C, Vitale R, Lodi T, Baruffini E. Nolli C, et al. Among authors: goffrini p. Mitochondrion. 2015 Nov;25:38-48. doi: 10.1016/j.mito.2015.10.002. Epub 2015 Oct 8. Mitochondrion. 2015. PMID: 26455272

8

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Nasca A, Legati A, Baruffini E, Nolli C, Moroni I, Ardissone A, Goffrini P, Ghezzi D. Nasca A, et al. Among authors: goffrini p. Hum Mutat. 2016 Sep;37(9):898-903. doi: 10.1002/humu.23033. Epub 2016 Jul 11. Hum Mutat. 2016. PMID: 27328748 Free PMC article.

9

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.

Ceccatelli Berti C, Dallabona C, Lazzaretti M, Dusi S, Tosi E, Tiranti V, Goffrini P. Ceccatelli Berti C, et al. Among authors: goffrini p. Microb Cell. 2015 Apr 6;2(4):126-135. doi: 10.15698/mic2015.04.196. Microb Cell. 2015. PMID: 28357284 Free PMC article.

10

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D. Legati A, et al. Among authors: goffrini p. J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27. J Med Genet. 2017. PMID: 29079705 Free PMC article.

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