A multicenter study on Leigh syndrome: disease course and predictors of survival von Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A, Tulinius, Már, Darin, Niklas

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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases von Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal ME, Brodtkorb, Eylert, Ostergaard, Elsebet, Coo, I. F. M, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy von Vissing, John, Barresi, Rita, Witting, Nanna, Van Ghelue, Marijke, Gammelgaard, Lise, Bindoff, Laurence A, Straub, Volker, Lochmüller, Hanns, Hudson, Judith, Wahl, Christoph M, Arnardottir, Snjolaug, Dahlbom, Kathe, Jonsrud, Christoffer, Duno, Morten

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Status epilepticus in POLG disease: a large multinational study von Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Irenaeus, Pias-Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Majamaa, Kari, Kärppä, Mikko, Ortigoza-Escobar, Juan Dario, Tangeraas, Trine, Berland, Siren, Harrison, Emma, Biggs, Heather, Horvath, Rita, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism von Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

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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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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study von Bjorkman, K, Vissing, J, Ostergaard, E, Bindoff, LA, de Coo, IFM, Engvall, M, Hikmat, O, Isohanni, P, Kollberg, G, Lindberg, C, Majamaa, K, Naess, K, Uusimaa, J, Tulinius, M, Darin, N

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Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations von WINTERTHUN, S, FERRARI, G, HE, L, TAYLOR, R. W, ZEVIANI, M, TURNBULL, D. M, ENGELSEN, B. A, MOEN, G, BINDOFF, L. A

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ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? von Hikmat, O., Tzoulis, C., Knappskog, P. M., Johansson, S., Boman, H., Sztromwasser, P., Lien, E., Brodtkorb, E., Ghezzi, D., Bindoff, L. A.

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Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications von Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Brodtkorb, Eylert, Fiskerstrand, Torunn, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

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Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin von Hakonen, Anna H., Heiskanen, Silja, Juvonen, Vesa, Lappalainen, Ilse, Luoma, Petri T., Rantamäki, Maria, Goethem, Gert Van, Löfgren, Ann, Hackman, Peter, Paetau, Anders, Kaakkola, Seppo, Majamaa, Kari, Varilo, Teppo, Udd, Bjarne, Kääriäinen, Helena, Bindoff, Laurence A., Suomalainen, Anu

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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease von Burn, John, Barker, William A, Markham, Alex F, Curtis, Ann, Chinnery, Patrick F, Coulthard, Alan, Fey, Constanze, Jackson, Andrew P, Jackson, Margaret J, Bates, David, Curtis, Andrew R.J, McHale, Duncan P, Bindoff, Laurence A, Ince, Paul G, Hay, David, Morris, Christopher M

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The impact of gender, puberty, and pregnancy in patients with POLG disease von Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Samsonsen, Christian, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Rene, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

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EFNS review on the role of muscle biopsy in the investigation of myalgia von Kyriakides, T., Angelini, C., Schaefer, J., Mongini, T., Siciliano, G., Sacconi, S., Joseph, J., Burgunder, J. M., Bindoff, L. A., Vissing, J., de Visser, M., Hilton-Jones, D.

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A novel Refsum-like disorder that maps to chromosome 20 von FISKERSTRAND, T, KNAPPSKOG, P, MAJEWSKI, J, WANDERS, R. J, BOMAN, H, BINDOFF, L. A

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Risk of developing a mitochondrial DNA deletion disorder von Chinnery, Patrick F, DiMauro, Salvatore, Shanske, Sara, Schon, Eric A, Zeviani, Massimo, Mariotti, Caterina, Carrara, Fanco, Lombes, Anne, Laforet, Pascal, Ogier, Heléne, Jaksch, Michaela, Lochmüller, Hanns, Horvath, Rita, Deschauer, Marcus, Thorburn, David R, Bindoff, Laurence A, Poulton, Joanna, Taylor, Robert W, Matthews, John NS, Turnbull, Douglass M

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Phenotype modulators in myophosphorylase deficiency von Martinuzzi, Andrea, Sartori, Elena, Fanin, Marina, Nascimbeni, Annachiara, Valente, Lucia, Angelini, Corrado, Siciliano, Gabriele, Mongini, Tiziana, Tonin, Paola, Tomelleri, Giuliano, Toscano, Antonio, Merlini, Luciano, Bindoff, Laurence A., Bertelli, Stefano

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Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene von Tzoulis, C., Denora, P. S., Santorelli, F. M., Bindoff, L. A.

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Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria von Temperley, Richard J., Seneca, Sara H., Tonska, Katarzyna, Bartnik, Ewa, Bindoff, Laurence A., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.A.

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Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure von Sanaker, P S, Husebye, E S, Fondenes, O, Bindoff, L A

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