L. A. Bindoff - Dissemin

Papers authored by L. A. Bindoff

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2007 P. S. Sanaker, E. S. Husebye, O. Fondenes, L. A. Bindoff

Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure

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Anna H. Hakonen, Guido Davidzon, Renato Salemi, Laurence A. Bindoff

, Gert Van Goethem, Salvatore DiMauro, David R. Thorburn, Anu Suomalainen

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

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Elisabeth Farbu, Ole-Bjørn Tysnes, Sverre Mørk, Bård K. Krossnes, Laurence A. Bindoff

Two Norwegian sisters with late onset Creutzfeldt-Jakob disease caused by the E200K mutation

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2006 G. O. Skeie, H. Aurlien, J. S. Muller, H. Lochmuller, G. Norgard, L. A. Bindoff

Unusual features in a boy with the rapsyn N88K mutation

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Katharina Maniura-Weber, Mark Helm, Katrin Engemann, Sabrina Eckertz, Myriam Möllers, Matthias Schauen, Armine Hayrapetyan, Jürgen-Christoph von Kleist-Retzow, Robert N. Lightowlers, Laurence A. Bindoff

, Rudolf J. Wiesner

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene

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Laurence A. Bindoff

, Nanette Mjellem, Kristian Sommerfelt, Bård K. Krossnes, Fiona Roberts, Jørgen Krohn, Randi Skarpaas Tranheim, Irene D. Haggerty

Severe fascioscapulohumeral muscular dystrophy presenting with Coats’ disease and mental retardation

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2005 S. Winterthun, G. Ferrari, L. He, R. W. Taylor, M. Zeviani, D. M. Turnbull, B. A. Engelsen, G. Moen, L. A. Bindoff

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase mutations

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Hakonen Ah, Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen, Ilse Lappalainen, Petri T. Luoma, Luoma Pt, Maria Rantamaki, Gert Van Goethem, Gert Van Goethem, Goethem Gv, Ann Löfgren, Ann Lofgren, Peter Hackman, Anders Paetau and 8 other authors

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

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2004 Patrick F. Chinnery, Salvatore DiMauro, Sara Shanske, Eric A. Schon, Massimo Zeviani, Caterina Mariotti, Fanco Carrara, Anne Lombes, Pascal Laforet, Heléne Ogier, Michaela Jaksch, Hanns Lochmüller, Rita Horvath

, Marcus Deschauer, David R. Thorburn and 5 other authors

Risk of developing a mitochondrial DNA deletion disorder

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L. A. Bindoff

[Muscular diseases in the sun].

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Margaret J. Jackson, Margaret A. Johnson, Zofia M. A. Chrzanowska-Lightowlers, Robert W. Taylor, Seyed Bidooki, Graham Venables, Robert N. Lightowlers, Douglass M. Turnbull, Laurence A. Bindoff

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

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Katharina Maniura-Weber, Robert W. Taylor, Margaret A. Johnson, Zofia Chrzanowska-Lightowlers, Andrew A. M. Morris, Charles P. J. Charlton, Douglass M. Turnbull, Laurence A. Bindoff

A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome

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2003 Mathew L. P. Howse, Theresa M. Wardell, Christopher J. Fisher, Peter J. B. Tilley, Patrick F. Chinnery, Laurence Bindoff

Late-onset mitochondrial disorder with electromyographic evidence of myotonia

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P. F. Chinnery, L. A. Bindoff

116th ENMC international workshop: the treatment of mitochondrial disorders, 14th–16th March 2003, Naarden, The Netherlands

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T. Rekand, C. Vedeler, A. Gramstad, L. Bindoff

Hashimoto’s encephalopathy: a treatable cause of mental impairment, stroke and seizures

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L. A. Bindoff

[The genetic basis of muscle disease].

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E. Farbu, E. Søfteland, L. A. Bindoff

, Bindoff La

Anaesthetic complications associated with myotonia congenita: Case study and comparison with other myotonic disorders

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L. Bindoff

Mitochondria and the heart

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Andrea Martinuzzi, Elena Sartori, Marina Fanin, Annachiara Nascimbeni, Lucia Valente, Corrado Angelini, Gabriele Siciliano, Tiziana Mongini, Paola Tonin, Giuliano Tomelleri, Antonio Toscano, Luciano Merlini

, Laurence A. Bindoff

, Bindoff La, Stefano Bertelli

Phenotype modulators in myophosphorylase deficiency.

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2002 L. A. Bindoff

[Thyrotoxic periodic paralysis--an unusual complication of hyperthyroidism].

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Papers authored by L. A. Bindoff