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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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The expanding clinical and genetic spectrum of ATP1A3-related disorders

Hendrik Rosewich1, Andreas Ohlenbusch, Peter Huppke

  • 1From the Department of Pediatrics and Adolescent Medicine (H.R., A.O., P.H., L.S., R.S., J.G., K.B.), Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University; Department of Pediatrics (M.B.), Hospital Dritter Orden, Munich, Germany; Departments of Pediatric Neurology (I.C.), Hospital Maria Pia do Centro Hospitalar do Porto, Portugal; 4IRCCS Stella Maris (S.F.), Calambrone, Pisa; Department of Clinical and Experimental Medicine (S.F.), University of Pisa, Italy; Neurogenetics Unit (C.M.L.), Department of Neurology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil; and Children's Hospital of Eastern Ontario (S.S.), Ottawa, Canada.

Neurology
|February 14, 2014
PubMed
Abstract

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