Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Katherine R. Smith, Hans Henrik M Dahl, Laura Canafoglia, Eva Andermann, John Damiano, Michela Morbin, Amalia C. Bruni, Giorgio Giaccone, Patrick Cossette, Paul Saftig, Joachim Grötzinger, Michael Schwake, Frederick Andermann, John F. Staropoli, Katherine B. Sims, Sara E. Mole, Silvana Franceschetti, Noreen A. Alexander, Jonathan D. Cooper, Harold A. ChapmanStirling Carpenter, Samuel F. Berkovic, Melanie Bahlo

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Medicine & Life Sciences