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Autor Lochmüller [4 articles]

Neu eingetragene Papers vom Autor: Lochmüller.
  • The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
    Brain : a journal of neurology, Vol. 130, No. Pt 8. (August 2007), pp. 2037-2044.
    posted to riboflavin myopathy flavoprotein etfdh co-q10 autosomal by LHON on 2008-05-18 06:47:53 as *****
  • Does thoracic or lumbar spine bone architecture predict vertebral failure strength more accurately than density?
    Osteoporosis International, Vol. 19, No. 4. (14 April 2008), pp. 537-545.
    posted to bmd bone diagnosis fractures by omalbam on 2008-03-24 21:22:10 as **
  • Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
    Brain (17 April 2007)
    by Juliane S S Müller, Agnes Herczegfalvi, Juan J J Vilchez, Jaume Colomer, Linda L L Bachinski, Violeta Mihaylova, Manuela Santos, Ulrike Schara, Marcus Deschauer, Michael Shevell, Chantal Poulin, Ana Dias, Ana Soudo, Marja Hietala, Tuula Aärimaa, Ralf Krahe, Veronika Karcagi, Angela Huebner, David Beeson, Angela Abicht, Hanns Lochmüller
    posted to genetics myasthenia nmj phenotype by inbetweener on 2007-06-25 13:37:36 as read along with 1 person mfrenkian
  • Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy.
    Science (17 August 2006)
    by David Beeson, Osamu Higuchi, Jackie Palace, Judy Cossins, Hayley Spearman, Susan Maxwell, John Newsom-Davis, Georgina Burke, Peter Fawcett, Masakatsu Motomura, Juliane S S Müller, Hanns Lochmüller, Clarke Slater, Angela Vincent, Yuji Yamanashi
    posted to genetics myasthenia nmj by inbetweener on 2007-06-12 03:54:24 as ** along with 1 person kochhan
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