| Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease MM Khan, D Lustrino, WA Silveira, F Wild, T Straka, Y Issop, E O’Connor, ... Proceedings of the National Academy of Sciences 113 (3), 746-750, 2016 | 141 | 2016 |
| Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome E O’Connor, A Töpf, JS Müller, D Cox, T Evangelista, J Colomer, A Abicht, ... Brain 139 (8), 2143-2153, 2016 | 68 | 2016 |
| Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment M Wiessner, A Roos, CJ Munn, R Viswanathan, T Whyte, D Cox, ... The American Journal of Human Genetics 100 (3), 523-536, 2017 | 60 | 2017 |
| Mitochondrial fragmentation enables localized signaling required for cell repair A Horn, S Raavicharla, S Shah, D Cox, JK Jaiswal Journal of Cell Biology 219 (5), e201909154, 2020 | 52 | 2020 |
| The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes G McMacken, D Cox, A Roos, J Müller, R Whittaker, H Lochmüller Human Molecular Genetics 27 (9), 1556-1564, 2018 | 32 | 2018 |
| High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia Z White, CH Hakim, M Theret, NN Yang, F Rossi, D Cox, GA Francis, ... Journal of clinical lipidology 14 (4), 459-469. e0, 2020 | 21 | 2020 |
| Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy BL Barthel, D Cox, M Barbieri, M Ziemba, V Straub, EP Hoffman, ... Muscle & Nerve 64 (1), 43-49, 2021 | 14 | 2021 |
| SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human V Phan, D Cox, S Cipriani, S Spendiff, S Buchkremer, E O'Connor, ... Neurobiology of Disease 124, 218-229, 2019 | 11 | 2019 |
| INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH D Hathazi, D Cox, A d'Amico, G Tasca, R Charlton, RY Carlier, ... Brain 144 (8), 2427-2442, 2021 | 7 | 2021 |
| Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice Z White, Z Sun, E Sauge, D Cox, G Donen, D Pechkovsky, V Straub, ... Skeletal Muscle 12 (1), 25, 2022 | 4 | 2022 |
| Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy U Moore, E Fernández-Simón, M Schiava, D Cox, H Gordish-Dressman, ... Neuromuscular Disorders 33 (2), 199-207, 2023 | 2 | 2023 |
| MRC biobank Newcastle–A five-year review of the John Walton Muscular Dystrophy Research Centre experience A Roos, D Cox, M Reza, M Guglieri, V Straub, H Lochmüller Neuromuscular Disorders 26, S207, 2016 | 1 | 2016 |
| Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy A Töpf, D Cox, IT Zaharieva, V Di Leo, J Sarparanta, PH Jonson, IM Sealy, ... Nature Genetics, 1-13, 2024 | | 2024 |
| Single cell RNA sequencing study of FAPS obtained from muscle samples of DMD patients reveals new pathogenic pathways of the muscle degeneration process X Suarez Calvet, EF Simon, PP Jurado, A Unsworth, J Alonso Perez, ... NEUROMUSCULAR DISORDERS 32, S97-S97, 2022 | | 2022 |
| P. 192 High-throughput screening of antifibrotic and antiadipogenic drugs using human FAP cells EF Simon, I Matthews, PP Jurado, XS Calvet, D Cox, V Justian, AC Rozas, ... Neuromuscular Disorders 32, S125-S126, 2022 | | 2022 |
| O. 16 Single cell RNA sequencing study of FAPS obtained from muscle samples of DMD patients reveals new pathogenic pathways of the muscle degeneration process XS Calvet, EF Simon, PP Jurado, A Unsworth, JA Perez, M Schiava, ... Neuromuscular Disorders 32, S97, 2022 | | 2022 |
| Minimal important differences and self-identifying treatment response in chronic inflammatory demyelinating polyneuropathy BL Barthel, D Cox, M Barbieri, M Ziemba, V Straub, EP Hoffman, ... MUSCLE & NERVE 64 (1), 43-49, 2021 | | 2021 |
| DMD–BIOMARKERS & OUTCOME MEASURES: P. 118 Elevation of fast, but not slow TnI in plasma from Duchenne and Becker muscular dystrophy patients suggests differential fiber … K Koch, B Barthel, M DuVall, D Cox, M Barbieri, E Hoffman, A Russell Neuromuscular Disorders 30, S81, 2020 | | 2020 |
| Elevation of fast, but not slow TnI in plasma from Duchenne and Becker muscular dystrophy patients suggests differential fiber response to disease K Koch, B Barthel, M DuVall, D Cox, M Barbieri, E Hoffman, A Russell NEUROMUSCULAR DISORDERS 30, S81-S81, 2020 | | 2020 |
| P. 171A clinical outcome study for dysferlinopathy: biobanking samples collected through a collaborative international multisite study H Hilsden, U Moore, D Cox, J Day, K Jones, D Bharucha-Goebel, ... Neuromuscular Disorders 29, S98, 2019 | | 2019 |
