Journal article

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina L O'Grady, Heather A Best, Tamar E Sztal, Vanessa Schartner, Tvlyriam Sanjuan-Vazquez, Sandra Donkervoort, Osorio Abath Neto, Roger Bryan Sutton, Biljana Ilkovski, Norma Beatriz Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A Ruparelia, Thierry Maisonobe, Anthony J Peduto, Stephen W Reddel Show all

American Journal of Human Genetics | CELL PRESS | Published : 2016

Grants

Awarded by Australian National Health and Medical Research Council (NHMRC)


Awarded by Australian Research Council


Awarded by National Human Genome Research Institute of the NIH


Awarded by Division of Intramural Research of the National Institutes of Neurological Disorders and Stroke, France Genomique National infrastructure grant Investissements d'Avenir and Agence Nationale pour la Recherche


Awarded by Association Frangaise contre les Myopathies


Awarded by Muscular Dystrophy Association


Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE


Awarded by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

This study was supported by the following funding: The Australian National Health and Medical Research Council (NHMRC) 1080587 (S.T.C., N.F.C., D.G.M., K.N.N., R.B.R., K.J.N., N.G.L.), 1022707 and 1031893 (K.N.N., N.F.C., and N.G.L.), 1048816 (S.T.C.), and 1056285 (G.L.O.), Muscular Dystrophy New South Wales (G.L.O.), Royal Australasian College of Physicians (G.L.O.), Australian Research Council FT100100734 (K.J.N.), National Human Genome Research Institute of the NIH (D.G.M., Medical Sequencing Program grant U54 HG003067 to the Broad Institute principal investigator, Lander), Division of Intramural Research of the National Institutes of Neurological Disorders and Stroke, France Genomique National infrastructure grant Investissements d'Avenir and Agence Nationale pour la Recherche (ANR-10-INBS-09 and ANR-11-BSV1-026), Fondation Maladies Rares "Myocapture" sequencing project, Association Frangaise contre les Myopathies (AFM-15352 and AFM-16551), Muscular Dystrophy Association (MDA-186985), Myotubular Trust and IDEX-Universite de Strasbourg PhD fellowship (M.S.-V), and intramural funds of the NINDS/NIH (C.G.B. and S.D.).