James J. Dowling, M.D., Ph.D.
Affiliations: | Pediatrics, Neurology | University of Michigan, Ann Arbor, Ann Arbor, MI |
Area:
Congenital Muscular DiseaseGoogle:
"James Dowling"Mean distance: 16.46 (cluster 11)
Children
Sign in to add trainee| Aaron N. Reifler | grad student | 2011-2013 | University of Michigan |
| Eric Horstick | post-doc | NIH |
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Publications
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| Fabian L, Karimi E, Farman GP, et al. (2024) Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. Human Molecular Genetics |
| Lawlor MW, Schoser B, Margeta M, et al. (2023) Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. Ebiomedicine. 99: 104894 |
| Endo Y, Groom L, Wang SM, et al. (2023) Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy. Human Molecular Genetics |
| Chong JX, Childers MC, Marvin CT, et al. (2023) Variants in underlie distal arthrogryposis accompanied by congenital heart defects. Hgg Advances. 4: 100213 |
| Alawneh I, Yuki KE, Amburgey K, et al. (2023) Titin related myopathy with ophthalmoplegia. A novel phenotype. Neuromuscular Disorders : Nmd. 33: 605-609 |
| Chong JX, Childers MC, Marvin CT, et al. (2023) Variants in underlie distal arthrogryposis accompanied by congenital heart defects. Medrxiv : the Preprint Server For Health Sciences |
| Sarikaya E, Sabha N, Volpatti J, et al. (2022) Natural history of a mouse model of X-linked myotubular myopathy. Disease Models & Mechanisms |
| Espinosa KG, Geissah S, Groom L, et al. (2022) Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Disease Models & Mechanisms. 15 |
| Lawlor MW, Dowling JJ. (2021) X-linked myotubular myopathy. Neuromuscular Disorders : Nmd. 31: 1004-1012 |
| Smith SJ, Fabian L, Sheikh A, et al. (2021) Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy. Human Molecular Genetics |