Carrara F - Search Results

1

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

2

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

3

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M. Ferrari G, et al. Among authors: carrara f. Brain. 2005 Apr;128(Pt 4):723-31. doi: 10.1093/brain/awh410. Epub 2005 Feb 2. Brain. 2005. PMID: 15689359

4

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M. Fernandez-Vizarra E, et al. Among authors: carrara f. Hum Mol Genet. 2007 May 15;16(10):1241-52. doi: 10.1093/hmg/ddm072. Epub 2007 Apr 2. Hum Mol Genet. 2007. PMID: 17403714

5

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V. Valente L, et al. Among authors: carrara f. Biochim Biophys Acta. 2009 May;1787(5):491-501. doi: 10.1016/j.bbabio.2008.10.001. Epub 2008 Oct 15. Biochim Biophys Acta. 2009. PMID: 18977334 Free article.

6

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

Salsano E, Farina L, Lamperti C, Piscosquito G, Salerno F, Morandi L, Carrara F, Lamantea E, Zeviani M, Uziel G, Savoiardo M, Pareyson D. Salsano E, et al. Among authors: carrara f. J Neurol. 2013 Jun;260(6):1617-23. doi: 10.1007/s00415-013-6844-z. Epub 2013 Jan 29. J Neurol. 2013. PMID: 23358625 Review.

7

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

8

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

9

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

10

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.

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