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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Academic Journal
Sandra Donkervoort; Niklas Krause; Mykola Dergai; Pomi Yun; Judith Koliwer; Svetlana Gorokhova; Janelle Geist Hauserman; Beryl B Cummings; Ying Hu; Rosemarie Smith; Prech Uapinyoying; Vijay S Ganesh; Partha S Ghosh; Kristin G Monaghan; Seby L Edassery; Pia E Ferle; Sarah Silverstein; Katherine R Chao; Molly Snyder; Sara Ellingwood; Diana Bharucha‐Goebel; Susan T Iannaccone; Matteo Dal Peraro; A Reghan Foley; Jeffrey N Savas; Véronique Bolduc; Dirk Fasshauer; Carsten G Bönnemann; Michael Schwake
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
Academic Journal
Sarah R Rivera; Sumit K Jhamb; Hoda Z Abdel-Hamid; Gyula Acsadi; John Brandsema; Emma Ciafaloni; Basil T Darras; Susan T Iannaccone; Chamindra G Konersman; Nancy L Kuntz; Craig M McDonald; Julie A Parsons; Carolina Tesi Rocha; Craig M Zaidman; Russell J Butterfield; Anne M Connolly; Katherine D Mathews
PLoS ONE, Vol 15, Iss 10, p e0240687 (2020)
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[AR] Susan T Iannaccone
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