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TITLE: Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
AUTHORS: Samuel F Berkovic; John F Staropoli; Stirling Carpenter; Karen L Oliver; Stanislav Kmoch; Glenn W Anderson; John A Damiano; Michael S Hildebrand; Katherine B Sims; Susan L Cotman; Melanie Bahlo; Katherine R Smith; Maxime Cadieux Dion; Patrick Cossette; Ivana Jedlickova; Anna Pristoupilova; Sara E Mole;
PUBLISHED: 2016, SOURCE: NEUROLOGY, VOLUME: 87, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Co-assembly, spatiotemporal control and morphogenesis of a hybrid protein–peptide system
AUTHORS: Karla E Inostroza-Brito; Estelle Collin; Orit Siton-Mendelson; Katherine H Smith; Amàlia Monge-Marcet; Daniela S Ferreira; Raúl Pérez Rodríguez; Matilde Alonso; José Carlos Rodríguez-Cabello; Rui L Reis; Francesc Sagués; Lorenzo Botto; Ronit Bitton; Helena S Azevedo; Alvaro Mata;
PUBLISHED: 2015, SOURCE: Nature Chemistry - Nature Chem, VOLUME: 7, ISSUE: 11
INDEXED IN: CrossRef
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TITLE: Co-Assembled and Microfabricated Bioactive Membranes  Full Text
AUTHORS: Ana C Mendes; Katherine H Smith; Esther Tejeda Montes; Elisabeth Engel; Rui L Reis ; Helena S Azevedo; Alvaro Mata;
PUBLISHED: 2013, SOURCE: ADVANCED FUNCTIONAL MATERIALS, VOLUME: 23, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 44
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TITLE: Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
AUTHORS: 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 Groetzinger; Michael Schwake; Frederick Andermann; John F Staropoli; Katherine B Sims; Sara E Mole; Silvana Franceschetti; Noreen A Alexander; Jonathan D Cooper; Harold A Chapman; Stirling Carpenter; Samuel F Berkovic; Melanie Bahlo; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
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TITLE: Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
AUTHORS: 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;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef