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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B. Carelli V, et al. Among authors: valentino ml. Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24. Hum Mol Genet. 2011. PMID: 21349918
Acquired neuromyotonia after bone marrow transplantation.
Liguori R, Vincent A, Avoni P, Valentino ML, D'Alessandro R, Zaccaria A, Bandini G, Montagna P. Liguori R, et al. Among authors: valentino ml. Neurology. 2000 Mar 28;54(6):1390-1. doi: 10.1212/wnl.54.6.1390. Neurology. 2000. PMID: 10746621 No abstract available.
Focal myoclonus and propriospinal propagation.
Vetrugno R, Provini F, Plazzi G, Valentino ML, Liguori R, Lugaresi E, Montagna P. Vetrugno R, et al. Among authors: valentino ml. Clin Neurophysiol. 2000 Dec;111(12):2175-9. doi: 10.1016/s1388-2457(00)00471-5. Clin Neurophysiol. 2000. PMID: 11090769
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.
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.
127 results