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TITLE: The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation  Full Text
AUTHORS: Staus, Paulina; Rusch, Stephan; El Helou, Sabine; Mueller, Gabriele; Krausz, Mate; Geisen, Ulf; Caballero Oteyza, Andres; Krueger, Renate; Bakhtiar, Shahrzad; Lee Kirsch, Min Ae; Fasshauer, Maria; Baumann, Ulrich; Hoyer, Bimba Franziska; Neves, Joao Farela; Borte, Michael; Carrabba, Maria; Hauck, Fabian; Ehl, Stephan; Bader, Peter; von Bernuth, Horst; Atschekzei, Faranaz; Seppaenen, Mikko R. J.; Warnatz, Klaus; Nieters, Alexandra; Kindle, Gerhard; Grimbacher, Bodo; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY
INDEXED IN: Scopus WOS
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TITLE: Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
AUTHORS: Elodie Martin; Rebecca Schuele; Katrien Smets; Agnes Rastetter; Amir Boukhris; Jose L Loureiro ; Michael A Gonzalez; Emeline Mundwiller; Tine Deconinck; Marc Wessner; Ludmila Jornea; Andres Caballero Oteyza; Alexandra Durr; Jean Jacques Martin; Ludger Schoels; Chokri Mhiri; Foudil Lamari; Stephan Zuechner; Peter De Jonghe; Edor Kabashi; Alexis Brice; Giovanni Stevanin; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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TITLE: Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
AUTHORS: Amir Boukhris; Rebecca Schule; Jose L Loureiro ; Charles Marques Lourenco; Emeline Mundwiller; Michael A Gonzalez; Perrine Charles; Julie Gauthier; Imen Rekik; Rafael F A Acosta Lebrigio; Marion Gaussen; Fiorella Speziani; Andreas Ferbert; Imed Feki; Andres Caballero Oteyza; Alexandre Dionne Laporte; Mohamed Amri; Anne Noreau; Sylvie Forlani; Vitor T Cruz ; Fanny Mochel; Paula Coutinho ; Patrick Dion; Chokri Mhiri; Ludger Schols; Jean Pouget; Frederic Darios; Guy A Rouleau; Wilson Marques; Alexis Brice; Alexandra Durr; Stephan Zuchner; Giovanni Stevanin; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 93, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 145