Valentino ML - Search Results

1

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Ardissone A, Bello L, Bruno C, Ienco EC, Diodato D, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Primiano G, Ronchi D, Rubegni A, Salvatore S, Sciacco M, Valentino ML, Vercelli L, Toscano A, Zeviani M, Siciliano G, Mancuso M. Orsucci D, et al. Among authors: valentino ml. J Neurol. 2017 Aug;264(8):1777-1784. doi: 10.1007/s00415-017-8567-z. Epub 2017 Jul 10. J Neurol. 2017. PMID: 28695364

2

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

3

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.

4

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

5

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

6

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

7

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

8

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, Barboni P, Longanesi L, Schimpf S, Wissinger B, Baruzzi A, Barbiroli B, Carelli V. Lodi R, et al. Among authors: valentino ml. Ann Neurol. 2004 Nov;56(5):719-23. doi: 10.1002/ana.20278. Ann Neurol. 2004. PMID: 15505825

9

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A. Carelli V, et al. Among authors: valentino ml. Am J Hum Genet. 2006 Apr;78(4):564-74. doi: 10.1086/501236. Epub 2006 Jan 27. Am J Hum Genet. 2006. PMID: 16532388 Free PMC article.

10

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.

Valentino ML, Barboni P, Rengo C, Achilli A, Torroni A, Lodi R, Tonon C, Barbiroli B, Fortuna F, Montagna P, Baruzzi A, Carelli V. Valentino ML, et al. J Med Genet. 2006 Jul;43(7):e38. doi: 10.1136/jmg.2005.037507. J Med Genet. 2006. PMID: 16816025 Free PMC article.

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