1
TITLE: Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
AUTHORS: Marisa W Friederich; Sharita Timal; Christopher A Powell; Cristina Dallabona; Alina Kurolap; Sara Palacios Zambrano; Drago Bratkovic; Terry G J Derks; David Bick; Katelijne Bouman; Kathryn C Chatfield; Nadine Damouny Naoum; Megan K Dishop; Tzipora C Falik Zaccai; Fuad Fares; Ayalla Fedida; Ileana Ferrero; Renata C Gallagher; Rafael Garesse; Micol Gilberti; Cristina Gonzalez; Katherine Gowan; Clair Habib; Rebecca K Halligan; Limor Kalfon; Kaz Knight; Dirk Lefeber; Laura Mamblona; Hanna Mandel; Adi Mory; John Ottoson; Tamar Paperna; Ger J M Pruijn; Pedro F Rebelo Guiomar; Ann Saada; Bruno Sainz; Hayley Salvemini; Mirthe H Schoots; Jan A Smeitink; Maciej J Szukszto; Hendrik J ter Horst; Frans van den Brandt; Francjan J van Spronsen; Joris A Veltman; Eric Wartchow; Liesbeth T Wintjes; Yaniv Zohar; Miguel A Fernandez Moreno; Hagit N Baris; Claudia Donnini; Michal Minczuk; Richard J Rodenburg; Johan L K Van Hove; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS
2
TITLE: Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis
AUTHORS: Lilleker, JB; Rietveld, A; Pye, SR; Mariampillai, K; Benveniste, O; Peeters, MTJ; Miller, JAL; Hanna, MG; Machado, PM; Parton, MJ; Gheorghe, KR; Badrising, UA; Lundberg, IE; Sacconi, S; Herbert, MK; McHugh, NJ; Lecky, BRF; Brierley, C; Hilton Jones, D; Lamb, JA; Roberts, ME; Cooper, RG; Saris, CGJ; Pruijn, GJM; Chinoy, H; van Engelen, BGM; ...More
PUBLISHED: 2017, SOURCE: ANNALS OF THE RHEUMATIC DISEASES, VOLUME: 76, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 63
3
TITLE: Disease specificity of autoantibodies to cytosolic 5′-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases
AUTHORS: Herbert, MK; Stammen Vogelzangs, J; Verbeek, MM; Rietveld, A; Lundberg, IE; Chinoy, H; Lamb, JA; Cooper, RG; Roberts, M; Badrising, UA; De Bleecker, JL; Machado, PM; Hanna, MG; Plestilova, L; Vencovsky, J; van Engelen, BG; Pruijn, GJM;
PUBLISHED: 2016, SOURCE: ANNALS OF THE RHEUMATIC DISEASES, VOLUME: 75, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 96