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Browsing by Author Eric A. Shoubridge

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Issue Date	Title	Author(s)
1-Sep-2020	A High-Density Human Mitochondrial Proximity Interaction Network	Hana Antonicka; Zhen Yuan Lin; Alexandre Janer; Mari J. Aaltonen; Woranontee Weraarpachai; Anne Claude Gingras; Eric A. Shoubridge
1-Apr-2017	Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype	Roberta La Piana; Woranontee Weraarpachai; Luis H. Ospina; Martine Tetreault; Jacek Majewski; G. Bruce Pike; Jean Claude Decarie; Donatella Tampieri; Bernard Brais; Eric A. Shoubridge
1-Jan-2018	Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS	Isabella R. Straub; Alexandre Janer; Woranontee Weraarpachai; Lorne Zinman; Janice Robertson; Ekaterina Rogaeva; Eric A. Shoubridge
15-Apr-2021	Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses	Isabella R. Straub; Woranontee Weraarpachai; Eric A. Shoubridge
1-Jan-2015	Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature	Elsebet Ostergaard; Woranontee Weraarpachai; Kirstine Ravn; Alfred Peter Born; Lars Jønson; Morten Duno; Flemming Wibrand; Eric A. Shoubridge; John Vissing

Showing results 1 to 5 of 5