G.P.57 von Sanaker, P.S, Leren, T, Miletic, H, Bindoff, L.A

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Severe nigrostriatal degeneration without clinical parkinsonism in patients with POLG mutations von Tzoulis, C, Tran, G.T, Schwarzlmüller, T, Specht, K, Haugarvoll, K, Balafkan, N, Lilleng, P.K, Miletic, H, Martin, B, Bindoff, L.A

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P4.58 Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells von Sanaker, P.S, Toompuu, M, McClorey, G, Bindoff, L.A

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116th ENMC international workshop: the treatment of mitochondrial disorders, 14th–16th March 2003, Naarden, The Netherlands von Chinnery, P.F, Bindoff, L.A

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P2.19 Norwegian patients with Limb Girdle Muscular Dystrophy 2I structural changes and immunhistochemistry related to clinical findings and genotype–fenotype von Lindal, S, Stensland, E, Jonsrud, C, Torbergsen, T, Myreng, K, Bindoff, L.A, Rasmussen, M, Thyssen, F, Nilssen, Ø

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Multi-system neurological disease is common in patients with OPA1 mutations von Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.

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Correlation between Genetic and Geographic Structure in Europe von Lao, Oscar, Lu, Timothy T., Nothnagel, Michael, Junge, Olaf, Freitag-Wolf, Sandra, Caliebe, Amke, Balascakova, Miroslava, Bertranpetit, Jaume, Bindoff, Laurence A., Comas, David, Holmlund, Gunilla, Kouvatsi, Anastasia, Macek, Milan, Mollet, Isabelle, Parson, Walther, Palo, Jukka, Ploski, Rafal, Sajantila, Antti, Tagliabracci, Adriano, Gether, Ulrik, Werge, Thomas, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, André G., Gieger, Christian, Wichmann, Heinz-Erich, Rüther, Andreas, Schreiber, Stefan, Becker, Christian, Nürnberg, Peter, Nelson, Matthew R., Krawczak, Michael, Kayser, Manfred

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G.P.11.01 RNA processing differences explain tissue specificity in exercise intolerance myopathy due to ISCU intronic mutation von Sanaker, P.S, Toompuu, M, Chrzanowska-Lightowlers, Z, He, L, Hogan, V, Taylor, R.W, Tzoulis, C, Bindoff, L.A

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O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease von Bindoff, L.A, Fiskerstrand, T, Brahim, D. H’mida-Ben, Johansson, S, M’zahem, A, Haukanes, B.I, Drouot, N, Zimmermann, J, Cole, A.J, Vedeler, C, Bredrup, C, Assoum, M, Tazir, M, Klockgether, T, Hamri, A, Steen, V.M, Boman, H, Koenig, M, Knappskog, P.M

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G.P.57: Novel MYH7-mutations in Norwegian patients with distal myopathy von Sanaker, P.S., Leren, T., Miletic, H., Bindoff, L.A.

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Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation von Kler, R S, Jackson, S, Bartlett, K, Bindoff, L A, Eaton, S, Pourfarzam, M, Frerman, F E, Goodman, S I, Watmough, N J, Turnbull, D M

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The sequence of the flavoprotein subunit of bovine heart succinate dehydrogenase von BIRCHMACHIN, MA, FARNSWORTH, L, ACKRELL, BAC, COCHRAN, B, JACKSON, S, BINDOFF, LA, AITKEN, A, DIAMOND, AG, TURNBULL, DM

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Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism von BINDOFF, L. A, HOWELL, N, POULTON, J, MCCULLOUGH, D. A, MORTEN, K. J, LIGHTOWLERS, R. N, TURNBULL, D. M, WEBER, K

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Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease von Bindoff, L.A., Birch-Machin, M.A., Cartlidge, N.E.F., Parker, W.D., Turnbull, D.M.

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Intracellular Mitochondrial Triplasmy in a Patient with Two Heteroplasmic Base Changes von Bidooki, S.K., Johnson, M.A., Chrzanowska-Lightowlers, Z., Bindoff, L.A., Lightowlers, R.N.

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MITOCHONDRIAL FUNCTION IN PARKINSON'S DISEASE von Bindoff, L.A., Birch-Machin, M., Cartlidge, N.E.F., Parker, W.D., Turnbull, D.M.

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An Evaluation of the Measurement of the Activities of Complexes I-IV in the Respiratory Chain of Human Skeletal Muscle Mitochondria von Birchmachin, M.A., Briggs, H.L., Saborido, A.A., Bindoff, L.A., Turnbull, D.M.

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Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population von Newkirk, J.E., Taylor, R.W., Howell, N., Bindoff, L.A., Chinnery, P.F., Alberti, K.G.M.M., Turnbull, D.M., Walker, M.

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MITOCHONDRIAL GENE SEGREGATION IN MAMMALS - IS THE BOTTLENECK ALWAYS NARROW von HOWELL, N, HALVORSON, S, KUBACKA, MCCULLOUGH, DA, BINDOFF, LA, TURNBULL, DM

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P.P.4 09 Spectrum of mutations and prevalence of FKRP associated disease in Norway von Jonsrud, C., Lindal, S., Torbergsen, T., Stensland, E., Rasmussen, M., Borota, O., Skullerud, K., Bindoff, L.A., Fiskerstrand, T., Thyssen, F.M., Nilssen, Ø.

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