Valentino ML - Search Results

1

Leber's hereditary optic neuropathy with childhood onset.

Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F, Carta A, Carbonelli M, Sadun AA, Carelli V. Barboni P, et al. Among authors: valentino ml. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5303-9. doi: 10.1167/iovs.06-0520. Invest Ophthalmol Vis Sci. 2006. PMID: 17122117

2

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases.

Carelli V, Valentino ML, Liguori R, Meletti S, Vetrugno R, Provini F, Mancardi GL, Bandini F, Baruzzi A, Montagna P. Carelli V, et al. Among authors: valentino ml. J Neurol Neurosurg Psychiatry. 2001 Dec;71(6):813-6. doi: 10.1136/jnnp.71.6.813. J Neurol Neurosurg Psychiatry. 2001. PMID: 11723211 Free PMC article.

3

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. Among authors: valentino ml. Arch Neurol. 2002 Feb;59(2):264-70. doi: 10.1001/archneur.59.2.264. Arch Neurol. 2002. PMID: 11843698

4

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: valentino ml. 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.

5

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. Ann Neurol. 2002 Jun;51(6):774-8. doi: 10.1002/ana.10193. Ann Neurol. 2002. PMID: 12112086

6

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy.

Carelli V, Vergani L, Bernazzi B, Zampieron C, Bucchi L, Valentino M, Rengo C, Torroni A, Martinuzzi A. Carelli V, et al. Biochim Biophys Acta. 2002 Oct 9;1588(1):7-14. doi: 10.1016/s0925-4439(02)00097-2. Biochim Biophys Acta. 2002. PMID: 12379308 Free article.

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: valentino ml. 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

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros PA, Sadun F, DeNegri AM, Andrade R, Moraes M, Passos A, Kjaer P, Pereira J, Valentino ML, Schein S, Belfort R. Sadun AA, et al. Among authors: valentino ml. Am J Ophthalmol. 2003 Aug;136(2):231-8. doi: 10.1016/s0002-9394(03)00099-0. Am J Ophthalmol. 2003. PMID: 12888043

9

Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report.

Barboni P, Savini G, Plazzi G, Bellan M, Valentino ML, Zanini M, Montagna P, Hirano M, Carelli V. Barboni P, et al. Among authors: valentino ml. Graefes Arch Clin Exp Ophthalmol. 2004 Oct;242(10):878-80. doi: 10.1007/s00417-004-0914-y. Epub 2004 Mar 24. Graefes Arch Clin Exp Ophthalmol. 2004. PMID: 15042378

10

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, Achilli A, Torroni A, Lugaresi A, Lodi R, Barbiroli B, Dotti M, Federico A, Baruzzi A, Carelli V. Valentino ML, et al. Ann Neurol. 2004 Nov;56(5):631-41. doi: 10.1002/ana.20236. Ann Neurol. 2004. PMID: 15505787

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