Journal article

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Silvio Bertini, Patrick F Chinnery, John Christodoulou, Bruce H Cohen, Ryan L Davis, Marni J Falk, Carl Fratter, Rita Horvath, Mary Kay Koenig, Michaelangelo Mancuso, Shana McCormack, Elizabeth M McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah Steele, Silvia Stockler Show all

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2019

Grants

Awarded by Wellcome Centre for Mitochondrial Research


Awarded by Medical Research Council (UK)


Awarded by European Research Council


Awarded by Newton Fund (UK/Turkey)


Awarded by UK NIHR


Awarded by Medical Research Council Mitochondrial Biology Unit


Awarded by EU FP7 TIRCON


Awarded by Great Ormond Street Hospital Children's Charity Research Leadership Award


Awarded by Lily Foundation


Awarded by Telethon



Funding Acknowledgements

RH is a Wellcome Trust Investigator (109915/Z/15/Z), who receives support from the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), Medical Research Council (UK) (MR/N025431/1), the European Research Council (309548), the Wellcome Trust Pathfinder Scheme (201064/Z/16/Z) and the Newton Fund (UK/Turkey, MR/N027302/1). PFC is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z) and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2), the Medical Research Council (UK) Centre for Translational Muscle Disease (G0601943), EU FP7 TIRCON and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge. SR is supported by a Great Ormond Street Hospital Children's Charity Research Leadership Award (V1260) and by research grant funding from the NIHR Great Ormond Street Hospital Biomedical Research Centre and the Lily Foundation. ESB, SR and MR are members of the European Reference Network for Rare Hereditary Metabolic Disorders (METABERN)-Project ID No 739543. MetabERN is partly cofunded by the European Union in the framework of the Third Health Programme ' ERN-2016Framework Partnership Agreement 2017-2021'. MM is supported by research grants from Telethon and MITOCON Italian patients' association (grants GSP09004 and GSP16001).