Katherine Sims
AuthID: R-00G-1FE
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
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
2
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; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 7
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; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 7
3
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
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
4
TITLE: Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry Full Text
AUTHORS: William R Wilcox; Oliveira, JP ; Robert J Hopkin; Alberto Ortiz; Maryam Banikazemi; Ulla Feldt Rasmussen; Katherine Sims; Stephen Waldek; Gregory M Pastores; Philip Lee; Christine M Eng; Laszlo Marodi; Kevin E Stanford; Frank Breunig; Christoph Wanner; David G Warnock; Roberta M Lemay; Dominique P Germain;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 2
AUTHORS: William R Wilcox; Oliveira, JP ; Robert J Hopkin; Alberto Ortiz; Maryam Banikazemi; Ulla Feldt Rasmussen; Katherine Sims; Stephen Waldek; Gregory M Pastores; Philip Lee; Christine M Eng; Laszlo Marodi; Kevin E Stanford; Frank Breunig; Christoph Wanner; David G Warnock; Roberta M Lemay; Dominique P Germain;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 2
