Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions-Reference-Cited by-同舟云学术

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

Published:2014-05-28 Issue:1 Volume:14 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

La Morgia Chiara,Caporali Leonardo,Gandini Francesca,Olivieri Anna,Toni Francesco,Nassetti Stefania,Brunetto Daniela,Stipa Carlotta,Scaduto Cristina,Parmeggiani Antonia,Tonon Caterina,Lodi Raffaele,Torroni Antonio,Carelli Valerio

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/1471-2377-14-116.pdf

Reference15 articles.

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2. Maresca A, la Morgia C, Caporali L, Valentino ML, Carelli V: The optic nerve: a “mito-window” on mitochondrial neurodegeneration. Mol Cell Neurosci. 2013, 55: 62-76.

3. Funalot B, Reynier P, Vighetto A, Ranoux D, Bonnefont JP, Godinot C, Malthièry Y, Mas JL: Leigh-like encephalopathy complicating Leber’s hereditary optic neuropathy. Ann Neurol. 2002, 52: 374-377. 10.1002/ana.10299.

4. Lebre AS, Rio M, Faivre d’Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N: A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet. 2011, 48: 16-23. 10.1136/jmg.2010.079624.

5. Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V: Cybrid studies establish the causal link between the mtDNA m.3890G > A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. Biochim Biophys Acta. 2013, 1832: 445-452. 10.1016/j.bbadis.2012.12.002.

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