Carrara F - Search Results

1

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: carrara f. 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.

2

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M. Reyes A, et al. Among authors: carrara f. Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18. Am J Hum Genet. 2015. PMID: 26094573 Free PMC article.

3

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

Zanolini A, Potic A, Carrara F, Lamantea E, Diodato D, Blasevich F, Marchet S, Mora M, Pallotti F, Morandi L, Zeviani M, Lamperti C. Zanolini A, et al. Among authors: carrara f. Mol Genet Metab Rep. 2016 Dec 15;10:24-27. doi: 10.1016/j.ymgmr.2016.11.009. eCollection 2017 Mar. Mol Genet Metab Rep. 2016. PMID: 28070494 Free PMC article.

4

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M. Lamantea E, et al. Among authors: carrara f. Neuromuscul Disord. 2002 Jan;12(1):49-52. doi: 10.1016/s0960-8966(01)00244-9. Neuromuscul Disord. 2002. PMID: 11731284

5

Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene.

Fetoni V, Briem E, Carrara F, Mora M, Zeviani M. Fetoni V, et al. Among authors: carrara f. Neuromuscul Disord. 2004 Nov;14(11):723-6. doi: 10.1016/j.nmd.2004.07.002. Neuromuscul Disord. 2004. PMID: 15482956

6

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

Spinazzola A, Carrara F, Mora M, Zeviani M. Spinazzola A, et al. Among authors: carrara f. Neuromuscul Disord. 2004 Dec;14(12):815-7. doi: 10.1016/j.nmd.2004.09.002. Neuromuscul Disord. 2004. PMID: 15564038

7

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.

Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S. Wang L, et al. Among authors: carrara f. Mol Genet Metab. 2005 Jan;84(1):75-82. doi: 10.1016/j.ymgme.2004.09.005. Mol Genet Metab. 2005. PMID: 15639197

8

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

Malfatti E, Bugiani M, Invernizzi F, de Souza CF, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MT, Giugliani R, Uziel G, Zeviani M. Malfatti E, et al. Among authors: carrara f. Brain. 2007 Jul;130(Pt 7):1894-904. doi: 10.1093/brain/awm114. Epub 2007 May 29. Brain. 2007. PMID: 17535832

9

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.

Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M. Invernizzi F, et al. Among authors: carrara f. Neuromuscul Disord. 2008 Jun;18(6):460-4. doi: 10.1016/j.nmd.2008.04.005. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18502641

10

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: carrara f. 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

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