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  • Renxue Wang, Matt Salem, +7 authors Victor Ling
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences…
  • 2001 (First Publication: 13 February 2001)
  • Mutations in the sister of P-glycoprotein (Spgp) or bile salt export pump (BSEP) are associated with Progressive Familial Intrahepatic Cholestasis (PFIC2). Spgp is predominantly expressed in theContinue Reading
  • Elayne M Chan, Cameron A. Ackerley, +5 authors Berge A Minassian
  • Biology, Medicine
  • Human molecular genetics
  • 2004 (First Publication: 21 April 2004)
  • Lafora disease (LD) is a fatal and the most common form of adolescent-onset progressive epilepsy. Fulminant endoplasmic reticulum (ER)-associated depositions of starch-like long-stranded, poorlyContinue Reading
  • Steven J. Clapcote, Steven Duffy, +14 authors John C. Roder
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences
  • 2009 (First Publication: 18 August 2009)
  • In a mouse mutagenesis screen, we isolated a mutant, Myshkin (Myk), with autosomal dominant complex partial and secondarily generalized seizures, a greatly reduced threshold for hippocampal seizuresContinue Reading
  • Peter R. Durie, Geraldine Kent, Melville J. Phillips, Cameron A. Ackerley
  • Medicine
  • The American journal of pathology
  • 2004 (First Publication: 1 April 2004)
  • The lack of an appropriate animal model with multiorgan pathology characteristic of the human form of cystic fibrosis has hampered our understanding of the pathobiology of the disease. We evaluatedContinue Reading