Ghezzi D - Search Results

1

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M. Saoura M, et al. Among authors: ghezzi d. Hum Mutat. 2019 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31045291 Free PMC article.

2

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

Garavaglia B, Invernizzi F, Carbone ML, Viscardi V, Saracino F, Ghezzi D, Zeviani M, Zorzi G, Nardocci N. Garavaglia B, et al. Among authors: ghezzi d. J Inherit Metab Dis. 2004;27(4):455-63. doi: 10.1023/B:BOLI.0000037349.08483.96. J Inherit Metab Dis. 2004. PMID: 15303002

3

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group. Marongiu R, et al. Among authors: ghezzi d. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.

4

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmüller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M. Ghezzi D, et al. Among authors: d adamo p. Nat Genet. 2009 Jun;41(6):654-6. doi: 10.1038/ng.378. Epub 2009 May 24. Nat Genet. 2009. PMID: 19465911

5

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Ghezzi D, et al. Among authors: d adamo p. Am J Hum Genet. 2010 Apr 9;86(4):639-49. doi: 10.1016/j.ajhg.2010.03.002. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362274 Free PMC article.

6

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M. Ghezzi D, et al. Am J Hum Genet. 2012 Jun 8;90(6):1079-87. doi: 10.1016/j.ajhg.2012.04.011. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608499 Free PMC article.

7

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.

Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R, Zeviani M. Lamperti C, et al. Among authors: ghezzi d. Neuromuscul Disord. 2012 Nov;22(11):990-4. doi: 10.1016/j.nmd.2012.06.003. Epub 2012 Jul 23. Neuromuscul Disord. 2012. PMID: 22832341

8

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D. Lamperti C, et al. Among authors: ghezzi d. Mol Genet Metab. 2012 Nov;107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23010432 Free PMC article.

9

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. Baruffini E, et al. Among authors: ghezzi d. Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23929671 Free PMC article.

10

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M. Invernizzi F, et al. Among authors: ghezzi d. Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23. Hum Mutat. 2013. PMID: 24014394 Free PMC article.

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