Publications

Found 3 results
Filters: Keyword is Atrophy  [Clear All Filters]
2017
Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC & Houlden H (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 140, 2820-2837
2014
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong L-J, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TEM, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D & van der Knaap MS (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82, 2063-71
1987
Servidei S, Lazaro RP, Bonilla E, Barron KD, Zeviani M & DiMauro S (1987) Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency. Neurology 37, 58-63