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Paper Details

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.
Ann Clin Transl Neurol
13
2020
Selenoprotein, Selenoprotein N, children, developmental delay, hypotonia, myopathy, patients, scoliosis
Author NameAffiliation
Anna SarkozyUCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital
Casie A GenettiThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Alan H BeggsThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Francesco MuntoniUCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital
Francesco MuntoniNIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital Trust
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