1
TITLE: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
AUTHORS: Rene G Feichtinger; Bettina E Mucha; Holger Hengel; Zakaria Orfi; Christine Makowski; Junio Dort; Guy D'Anjou; Nguyen, TTM; Rebecca Buchert; Hendrik Juenger; Peter Freisinger; Sarah Baumeister; Benedikt Schoser; Uwe Ahting; Reinhard Keimer; Cam Tu Emilie Nguyen; Paul Fabre; Julie Gauthier; Marguerite Miguet; Fatima Lopes; Afnan AlHakeem; Amal AlHashem; Brahim Tabarki; Krishna Kumar Kandaswamy; Peter Bauer; Peter Steinbacher; Holger Prokisch; Marc Sturm; Tim M Strom; Benjamin Ellezam; Johannes A Mayr; Ludger Schoels; Jacques L Michaud; Philippe M Campeau; Tobias B Haack; Nicolas A Dumont; ...More
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 11
INDEXED IN: Scopus WOS
2
TITLE: MYOD1 involvement in myopathy  Full Text
AUTHORS: Lopes, F; Miguet, M; Mucha, BE; Gauthier, J; Saillour, V; Nguyen, CTE; Vanasse, M; Ellezam, B; Michaud, JL; Soucy, JF; Campeau, PM;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25, ISSUE: 12
INDEXED IN: Scopus WOS