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TITLE: Guideline of transthyretin-related hereditary amyloidosis for clinicians  Full Text
AUTHORS: Yukio Ando; Teresa Coelho; John L Berk; Marcia Waddington Cruz; Bo Goran Ericzon; Shu ichi Ikeda; David D Lewis; Laura Obici; Violaine Plante Bordeneuve; Claudio Rapezzi; Gerard Said; Fabrizio Salvi;
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease
AUTHORS: Hamid Azzedine; Petra Zavadakova; Violaine Plante Bordeneuve; Maria Vaz Pato; Nuno Pinto; Luca Bartesaghi; Jennifer Zenker; Olivier Poirot; Nathalie Bernard Marissal; Estelle Arnaud Gouttenoire; Romain Cartoni; Alexandra Title; Giulia Venturini; Jean Jacques Medard; Edward Makowski; Ludger Schoels; Kristl G Claeys; Claudia Stendel; Andreas Roos; Joachim Weis; Odile Dubourg; Jose Leal Loureiro ; Giovanni Stevanin; Gerard Said; Anthony Amato; Jay Baraban; Eric LeGuern; Jan Senderek; Carlo Rivolta; Roman Chrast; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 20
INDEXED IN: Scopus WOS CrossRef: 10