Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
Katherine R Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E Mole, John F Staropoli, Katherine B Sims, Jada Lewis, Wen-Lang Lin, Dennis W Dickson, Hans-Henrik Dahl, Melanie Bahlo, Samuel F Berkovic
American Journal of Human Genetics | CELL PRESS | Published : 2012
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K.R.S. is supported by a PhD scholarship funded by the Pratt Foundation. S.F.B. is supported by a National Health and Medical Research Council (NHMRC) Australia Fellowship and an NHMRC Program Grant. M.B. is supported by an Australian Research Council (ARC) Future Fellowship and an NHMRC Program Grant. S.E.M. is supported by the Medical Research Council. The Batten Disease Support and Research Association supported S.E.M., J.S., and K.S. We thank Pawan Mann and Olivia Galante for technical assistance; Danya years, Robyn Ferguson, and Karen Oliver for technical support; the Rare NCL Gene Consortium for encouraging collaborative research on variant NCL cases; and the families and physicians for providing samples.