Caterina Garone
AuthID: R-00G-JS4
1
TITLE: Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
AUTHORS: Rene G Feichtinger; Monika Olahova; Yoshihito Kishita; Caterina Garone; Laura S Kremer; Mikako Yagi; Takeshi Uchiumi; Alexis A Jourdain; Kyle Thompson; Aaron R D'Souza; Robert Kopajtich; Charlotte L Alston; Johannes Koch; Wolfgang Sperl; Elisa Mastantuono; Tim M Strom; Saskia B Wortmann; Thomas Meitinger; Germaine Pierre; Patrick F Chinnery; ...More
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 101, ISSUE: 4
AUTHORS: Rene G Feichtinger; Monika Olahova; Yoshihito Kishita; Caterina Garone; Laura S Kremer; Mikako Yagi; Takeshi Uchiumi; Alexis A Jourdain; Kyle Thompson; Aaron R D'Souza; Robert Kopajtich; Charlotte L Alston; Johannes Koch; Wolfgang Sperl; Elisa Mastantuono; Tim M Strom; Saskia B Wortmann; Thomas Meitinger; Germaine Pierre; Patrick F Chinnery; ...More
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 101, ISSUE: 4
INDEXED IN: 
WOS
WOS2
TITLE: Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
AUTHORS: Caterina Garone; Aaron R D'Souza; Cristina Dallabona; Tiziana Lodi; Pedro Rebelo Guiomar; Joanna Rorbach; Maria Alice Donati; Elena Procopio; Martino Montomoli; Renzo Guerrini; Massimo Zeviani; Sarah E Calvo; Vamsi K Mootha; Salvatore DiMauro; Ileana Ferrero; Michal Minczuk;
PUBLISHED: 2017, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 26, ISSUE: 21
AUTHORS: Caterina Garone; Aaron R D'Souza; Cristina Dallabona; Tiziana Lodi; Pedro Rebelo Guiomar; Joanna Rorbach; Maria Alice Donati; Elena Procopio; Martino Montomoli; Renzo Guerrini; Massimo Zeviani; Sarah E Calvo; Vamsi K Mootha; Salvatore DiMauro; Ileana Ferrero; Michal Minczuk;
PUBLISHED: 2017, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 26, ISSUE: 21
INDEXED IN: 
Scopus WOS
Scopus WOS3
TITLE: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Full Text
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
