Publications

Found 3 results
Filters: Keyword is Muscular Atrophy, Spinal  [Clear All Filters]
2018
Boczonadi V, King MS, Smith AC, Oláhová M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS & Horvath R (2018) Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet Med 20, 1224-1235
1997
Battaglia G, Princivalle A, Forti F, Lizier C & Zeviani M (1997) Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 6, 1961-71
1994
Melki J, Lefebvre S, Bürglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M & Le Paslier D (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-7