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Cover Image
The cover image, by C. Hedberg‐Oldfors et al., is based on the Original Article Polyglucosan myopathy and functional characterization of a novel GYG1 mutation, DOI: 10.1111/ane.12865.
Source: Acta Neurologica Scandinavica - February 1, 2018 Category: Neurology Authors: C. Hedberg ‐Oldfors, A. Mensch, K. Visuttijai, G. Stoltenburg, D. Stoevesandt, T. Kraya, A. Oldfors, S. Zierz Tags: COVER IMAGE Source Type: research

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation
ConclusionWe present functional evidence for the pathogenicity of a novel GYG1 missense mutation located in the substrate binding domain. Our results also demonstrate that glycogenin‐1 deficiency may present with highly variable distribution of weakness and wasting also in the same family.
Source: Acta Neurologica Scandinavica - November 16, 2017 Category: Neurology Authors: C. Hedberg ‐Oldfors, A. Mensch, K. Visuttijai, G. Stoltenburg, D. Stoevesandt, T. Kraya, A. Oldfors, S. Zierz Tags: ORIGINAL ARTICLE Source Type: research

Screening for late ‐onset Pompe disease in western Denmark
ConclusionNone of the screened patients had a reduced activity of the enzyme alpha‐glucosidase. Although the cohort studied was small, our findings do not suggest that LOPD is underdiagnosed in patients with unspecified myopathy in western Denmark.
Source: Acta Neurologica Scandinavica - August 22, 2017 Category: Neurology Authors: J. S. Hansen, E. G. Pedersen, D. Gaist, F. W. Bach, O. J. Vilholm, B. Sandal, L. Weitemeyer, K. Nielsen, F. E. Schlesinger, N. Preisler, J. Vissing, H. Andersen Tags: ORIGINAL ARTICLE Source Type: research

Secondary myopathy due to systemic diseases
ConclusionSecondary muscle manifestations of systemic diseases must be addressed and appropriately managed. Prognosis of secondary muscle disease in systemic diseases is usually fair if the underlying condition is accessible to treatment.
Source: Acta Neurologica Scandinavica - February 25, 2016 Category: Neurology Authors: J. Finsterer, W. N. Löscher, J. Wanschitz, S. Quasthoff, W. Grisold Tags: Review Article Source Type: research

Search for Pompe disease among patients with undetermined myopathies
ConclusionsThe prevalence of Pompe disease in western Sweden (3 in 1.27 million or 0.24 per 100.000 inhabitants) is lower than in the Netherlands and New York. Re‐evaluation of patients with myopathies but without definite diagnosis is rewarding since 12 of 82 patients in our study had a definite molecular diagnosis after workup.
Source: Acta Neurologica Scandinavica - July 20, 2015 Category: Neurology Authors: C. Lindberg, B. Anderson, M. Engvall, M. Hult, A. Oldfors Tags: Original Article Source Type: research