James J. Dowling, M.D., Ph.D.

Affiliations: 
Pediatrics, Neurology University of Michigan, Ann Arbor, Ann Arbor, MI 
Area:
Congenital Muscular Disease
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"James Dowling"
Mean distance: 16.46 (cluster 11)
 
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Publications

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Sabha N, Volpatti JR, Gonorazky H, et al. (2016) PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. The Journal of Clinical Investigation
Hanwell D, Hutchinson SA, Collymore C, et al. (2016) Restrictions on the Importation of Zebrafish into Canada Associated with Spring Viremia of Carp Virus. Zebrafish
Bamaga AK, Riazi S, Amburgey K, et al. (2016) Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Neuromuscular Disorders : Nmd
Lawlor MW, Beggs AH, Buj-Bello A, et al. (2016) Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. Journal of Neuropathology and Experimental Neurology
Jones JM, Dionne L, Dell'Orco J, et al. (2016) Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiology of Disease
Smith SJ, Horstick EJ, Davidson AE, et al. (2015) Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye. Journal of Visualized Experiments : Jove
Yuen M, Sandaradura SA, Dowling JJ, et al. (2015) Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 125: 456-7
Dowling JJ, Moore SA, Kalimo H, et al. (2015) X-linked myopathy with excessive autophagy: a failure of self-eating. Acta Neuropathologica. 129: 383-90
Burns R, Majczenko K, Xu J, et al. (2014) Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology. 83: 2175-82
Yuen M, Sandaradura SA, Dowling JJ, et al. (2014) Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708
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