1
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
2
TITLE: Redefining the MED13L syndrome
AUTHORS: Abidemi Adegbola; Luciana Musante; Bert Callewaert; Patricia Maciel; Hao Hu; Bertrand Isidor; Sylvie Picker Minh; Cedric Le Caignec; Barbara Delle Chiaie; Olivier Vanakker; Bjorn Menten; Annelies Dheedene; Nele Bockaert; Filip Roelens; Karin Decaestecker; Joao Silva; Gabriela Soares; Fatima Lopes; Hossein Najmabadi; Kimia Kahrizi; Gerald F Cox; Steven P Angus; John F Staropoli; Ute Fischer; Vanessa Suckow; Oliver Bartsch; Andrew Chess; Hans Hilger Ropers; Thomas F Wienker; Christoph Hubner; Angela M Kaindl; Vera M Kalscheuer; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
3
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