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Biochemical and Biophysical Research Communications|October 3, 2003
New patterns of inheritance in mitochondrial diseaseMarianne Schwartz, John Vissing
Journal of the Neurological Sciences|February 5, 2004
No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutationsMarianne Schwartz, John Vissing
Annals of Neurology|April 25, 2006
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in DenmarkMarie-Louise Sveen, Marianne Schwartz, John Vissing
Annals of Human Genetics|May 28, 2009
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle diseaseMorten Duno, Ros Quinlivan, John Vissing, et al.
Brain : a Journal of Neurology|May 13, 2009
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle diseaseJohn Vissing, Morten Duno, Marianne Schwartz, et al.
Muscle & Nerve|March 28, 2003
Decrement of compound muscle action potential is related to mutation type in myotonia congenitaEskild Colding-Jørgensen, Morten DunØ, Marianne Schwartz, et al.
European Journal of Human Genetics : EJHG|March 14, 2008
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in DenmarkMorten Duno, Marie-Louise Sveen, Marianne Schwartz, et al.
Neurology|August 23, 2006
Do carriers of PYGM mutations have symptoms of McArdle disease?Susanne Tvede Andersen, Morten Dunø, Marianne Schwartz, et al.
Neurology|May 11, 2005
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotypeMarianne Schwartz, Jens Michael Hertz, Marie Louise Sveen, et al.
Annals of Neurology|July 3, 2003
Oxidative capacity correlates with muscle mutation load in mitochondrial myopathyTina D Jeppesen, Marianne Schwartz, David B Olsen, et al.
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