30.08.2014 Views

Molecular characterisation of SGCE-associated myoclonus-dystonia ...

Molecular characterisation of SGCE-associated myoclonus-dystonia ...

Molecular characterisation of SGCE-associated myoclonus-dystonia ...

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

References 94<br />

Butler AG, Duffey PO, Hawthorne MR, Barnes MP. An epidemiologic survey <strong>of</strong> <strong>dystonia</strong><br />

within the entire population <strong>of</strong> northeast England over the past nine years. Adv Neurol<br />

2004; 94: 95-9.<br />

Camargos S, Scholz S, Simon-Sanchez J, Paisan-Ruiz C, Lewis P, Hernandez D, et al.<br />

DYT16, a novel young-onset <strong>dystonia</strong>-parkinsonism disorder: identification <strong>of</strong> a<br />

segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008; 7:<br />

207-15.<br />

Caviness JN, Alving LI, Maraganore DM, Black RA, McDonnell SK, Rocca WA. The<br />

incidence and prevalence <strong>of</strong> <strong>myoclonus</strong> in Olmsted County, Minnesota. Mayo Clin<br />

Proc 1999; 74: 565-9.<br />

Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, et al. T313M PINK1<br />

mutation in an extended highly consanguineous Saudi family with early-onset<br />

Parkinson disease. Arch Neurol 2006; 63: 1483-5.<br />

Chung EJ, Lee WY, Kim JY, Kim JH, Kim GM, Ki CS, et al. Novel <strong>SGCE</strong> gene mutation in<br />

a Korean patient with <strong>myoclonus</strong>-<strong>dystonia</strong> with unique phenotype mimicking Moya-<br />

Moya disease. Mov Disord 2007; 22: 1206-7.<br />

Cif L, Valente EM, Hemm S, Coubes C, Vayssiere N, Serrat S, et al. Deep brain stimulation<br />

in <strong>myoclonus</strong>-<strong>dystonia</strong> syndrome. Mov Disord 2004; 19: 724-7.<br />

Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH, et al. Drosophila pink1 is required<br />

for mitochondrial function and interacts genetically with parkin. Nature 2006.<br />

Coore HG, Denton RM, Martin BR, Randle PJ. Regulation <strong>of</strong> adipose tissue pyruvate<br />

dehydrogenase by insulin and other hormones. Biochem J 1971; 125: 115-27.<br />

Criscuolo C, Volpe G, De Rosa A, Varrone A, Marongiu R, Mancini P, et al. PINK1<br />

homozygous W437X mutation in a patient with apparent dominant transmission <strong>of</strong><br />

parkinsonism. Mov Disord 2006.<br />

Cr<strong>of</strong>ts AR, Hong S, Ugulava N, Barquera B, Gennis R, Guergova-Kuras M, et al. Pathways<br />

for proton release during ubihydroquinone oxidation by the bc(1) complex. Proc Natl<br />

Acad Sci U S A 1999; 96: 10021-6.<br />

Daube JR, Peters HA. Hereditary essential <strong>myoclonus</strong>. Arch Neurol 1966; 15: 587-94.<br />

Davidson RG, Cortner JA. Mitochondrial malate dehydrogenase: a new genetic<br />

polymorphism in man. Science 1967; 157: 1569-71.<br />

de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, et al.<br />

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are <strong>associated</strong> with rapidonset<br />

<strong>dystonia</strong> parkinsonism. Neuron 2004; 43: 169-75.

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!