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Helene Hjellnes

University Hospital of North Norway

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ABCC9 -related Intellectual disability Myopathy Syndrome is a K ATP channelopathy with loss-of-function mutations in ABCC9

2019 Nature Communications
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Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

2014 BMC Medical Genetics
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Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

2013 BMC Medical Genetics
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