Publications

Found 9 results
Filters: Keyword is Severity of Illness Index  [Clear All Filters]
2017
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk MA & Prokisch H (2017) Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet 101, 525-538
2014
Chouchani ET, Methner C, Buonincontri G, Hu C-H, Logan A, Sawiak SJ, Murphy MP & Krieg T (2014) Complex I deficiency due to selective loss of Ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathy. PLoS One 9, e94157
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco ECaldarazzo, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M & Siciliano G (2014) Myoclonus in mitochondrial disorders. Mov Disord 29, 722-8
2013
Davies AL, Desai RA, Bloomfield PS, McIntosh PR, Chapple KJ, Linington C, Fairless R, Diem R, Kasti M, Murphy MP & Smith KJ (2013) Neurological deficits caused by tissue hypoxia in neuroinflammatory disease. Ann Neurol 74, 815-25
2007
Key TJ, Appleby PN, Allen NE, Travis RC, Roddam AW, Jenab M, Egevad L, Tjønneland A, Johnsen NF, Overvad K, Linseisen J, Rohrmann S, Boeing H, Pischon T, Psaltopoulou T, Trichopoulou A, Trichopoulos D, Palli D, Vineis P, Tumino R, Berrino F, Kiemeney L, H Bueno-de-Mesquita B, J Quirós R, González CA, Martinez C, Larrañaga N, Chirlaque MDolores, Ardanaz E, Stattin P, Hallmans G, Khaw K-T, Bingham S, Slimani N, Ferrari P, Rinaldi S & Riboli E (2007) Plasma carotenoids, retinol, and tocopherols and the risk of prostate cancer in the European Prospective Investigation into Cancer and Nutrition study. Am J Clin Nutr 86, 672-81
2005
Sinha S, Luben RN, Welch A, Bingham S, Wareham NJ, Day NE & Khaw K-T (2005) Fibrinogen and cigarette smoking in men and women in the European Prospective Investigation into Cancer in Norfolk (EPIC-Norfolk) population. Eur J Cardiovasc Prev Rehabil 12, 144-50
Ishihara LS, Khaw K-T, Luben R, Bingham S, Welch A, Day N & Brayne C (2005) Self-reported parkinsonian symptoms in the EPIC-Norfolk cohort. BMC Neurol 5, 15
2002
Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M & Savoiardo M (2002) MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol 23, 1095-100
1997
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F & Zeviani M (1997) Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63, 16-22