Mora M - Search Results

1

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: mora m. 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.

2

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: mora m. 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.

3

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: mora m. Neuromuscul Disord. 2004 Dec;14(12):815-7. doi: 10.1016/j.nmd.2004.09.002. Neuromuscul Disord. 2004. PMID: 15564038

4

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Tiranti V, DiDonato S, Zeviani M. Mariotti C, et al. Among authors: mora m. J Neurol. 1995 Sep;242(9):547-56. doi: 10.1007/BF00868806. J Neurol. 1995. PMID: 8551315

5

Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.

Uziel G, Carrara F, Granata T, Lamantea E, Mora M, Zeviani M. Uziel G, et al. Among authors: mora m. Neuromuscul Disord. 2000 Aug;10(6):415-8. doi: 10.1016/s0960-8966(99)00115-7. Neuromuscul Disord. 2000. PMID: 10899447

6

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: mora m. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

7

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

Marchet S, Invernizzi F, Blasevich F, Bruno V, Dusi S, Venco P, Fiorillo C, Baranello G, Pallotti F, Lamantea E, Mora M, Tiranti V, Lamperti C. Marchet S, et al. Among authors: mora m. Mitochondrion. 2019 Jul;47:24-29. doi: 10.1016/j.mito.2019.04.002. Epub 2019 Apr 12. Mitochondrion. 2019. PMID: 30986505 Clinical Trial.

8

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: mora m. Neuromuscul Disord. 2004 Nov;14(11):723-6. doi: 10.1016/j.nmd.2004.07.002. Neuromuscul Disord. 2004. PMID: 15482956

9

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P, Zeviani M. Tiranti V, et al. Among authors: mora m. Ann Neurol. 1998 Jan;43(1):98-101. doi: 10.1002/ana.410430116. Ann Neurol. 1998. PMID: 9450773

10

A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.

Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E, Zeviani M. Tiranti V, et al. Among authors: mora m. Neuromuscul Disord. 1999 Mar;9(2):66-71. doi: 10.1016/s0960-8966(98)00103-5. Neuromuscul Disord. 1999. PMID: 10220860

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