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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
by
Ohlenbusch, Andreas
,
Edvardson, Simon
,
Skorpen, Johannes
,
Bjornstad, Alf
,
Saada, Ann
,
Elpeleg, Orly
,
Gärtner, Jutta
,
Brockmann, Knut
Published in
Orphanet journal of rare diseases
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Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report
by
Skorpen, Johannes
,
Helland, Ingrid B
,
Tennøe, Bjørn
Published in
Journal of medical case reports
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Regulation of the Size and Distribution of Ectopic Neuromuscular Junctions in Adult Skeletal Muscle by Nerve-Derived Trophic Factor and Electrical Muscle Activity
by
Skorpen, Johannes
,
Lafond-Benestad, Sylvie
,
Lømo, Terje
Published in
Molecular and cellular neuroscience
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Journal Of Medical Case Reports
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Molecular And Cellular Neuroscience
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