Carelli V - Search Results

1

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: carelli v. J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29. J Neurol. 2014. PMID: 24375076

2

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant.

Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C, Hoffman EP. Pegoraro E, et al. Among authors: carelli v. Am J Med Genet. 1996 Feb 2;61(4):356-62. doi: 10.1002/(SICI)1096-8628(19960202)61:4<356::AID-AJMG10>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8834048

3

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

Carelli V, Ghelli A, Ratta M, Bacchilega E, Sangiorgi S, Mancini R, Leuzzi V, Cortelli P, Montagna P, Lugaresi E, Degli Esposti M. Carelli V, et al. Neurology. 1997 Jun;48(6):1623-32. doi: 10.1212/wnl.48.6.1623. Neurology. 1997. PMID: 9191778

4

Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.

Carelli V, Baracca A, Barogi S, Pallotti F, Valentino ML, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A, Solaini G. Carelli V, et al. Arch Neurol. 2002 Feb;59(2):264-70. doi: 10.1001/archneur.59.2.264. Arch Neurol. 2002. PMID: 11843698

5

Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy.

Lodi R, Carelli V, Cortelli P, Iotti S, Valentino ML, Barboni P, Pallotti F, Montagna P, Barbiroli B. Lodi R, et al. Among authors: carelli v. J Neurol Neurosurg Psychiatry. 2002 Jun;72(6):805-7. doi: 10.1136/jnnp.72.6.805. J Neurol Neurosurg Psychiatry. 2002. PMID: 12023431 Free PMC article.

6

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, Carelli V. Valentino ML, et al. Among authors: carelli v. Ann Neurol. 2002 Jun;51(6):774-8. doi: 10.1002/ana.10193. Ann Neurol. 2002. PMID: 12112086

7

X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients.

Pegoraro E, Vettori A, Valentino ML, Molon A, Mostacciuolo ML, Howell N, Carelli V. Pegoraro E, et al. Among authors: carelli v. Am J Med Genet A. 2003 May 15;119A(1):37-40. doi: 10.1002/ajmg.a.10211. Am J Med Genet A. 2003. PMID: 12707956

8

Nuclear genes in mitochondrial disorders.

Zeviani M, Spinazzola A, Carelli V. Zeviani M, et al. Among authors: carelli v. Curr Opin Genet Dev. 2003 Jun;13(3):262-70. doi: 10.1016/s0959-437x(03)00052-2. Curr Opin Genet Dev. 2003. PMID: 12787788 Review.

9

Mitochondrial disorders.

Zeviani M, Carelli V. Zeviani M, et al. Among authors: carelli v. Curr Opin Neurol. 2003 Oct;16(5):585-94. doi: 10.1097/01.wco.0000093101.34793.c8. Curr Opin Neurol. 2003. PMID: 14501842 Review.

10

POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V. Mancuso M, et al. Among authors: carelli v. Neurology. 2004 Jan 27;62(2):316-8. doi: 10.1212/wnl.62.2.316. Neurology. 2004. PMID: 14745080

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