James Dowling

Program in Genetics & Genome Biology, The Hospital for Sick Children

Affiliated withThe Hospital for Sick Children The University of Toronto University of Michigan

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 22	2015

Other Publications

Article	Year
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Human mutation\| PubMed ID: 11754098	2002
Diabetic foot ulcers and infections: current concepts. Advances in skin & wound care\| PubMed ID: 11905449	2002
Explaining differences in the metabolic cost and efficiency of treadmill locomotion in children. Journal of sports sciences\| PubMed ID: 12137175	2002
The measurement of body segment inertial parameters using dual energy X-ray absorptiometry. Journal of biomechanics\| PubMed ID: 12445610	2002
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. European journal of human genetics : EJHG\| PubMed ID: 12825074	2003
Analysis of body segment parameter differences between four human populations and the estimation errors of four popular mathematical models. Journal of biomechanical engineering\| PubMed ID: 12968576	2003
Design and responses of Butterworth and critically damped digital filters. Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology\| PubMed ID: 14573371	2003
Using mass distribution information to model the human thigh for body segment parameter estimation. Journal of biomechanical engineering\| PubMed ID: 16060352	2005
Synthesis of [1,2,4]triazolo[1,5-a]pyrazines as adenosine A2A receptor antagonists. Bioorganic & medicinal chemistry letters\| PubMed ID: 16153830	2005
The uncertainty of the pendulum method for the determination of the moment of inertia. Medical engineering & physics\| PubMed ID: 16442329	2006
Predicting in vivo soft tissue masses of the lower extremity using segment anthropometric measures and DXA. Journal of applied biomechanics\| PubMed ID: 16498182	2005
Body segment parameter estimation of the human lower leg using an elliptical model with validation from DEXA. Annals of biomedical engineering\| PubMed ID: 16847589	2006
Potent and orally bioavailable 8-bicyclo[2.2.2]octylxanthines as adenosine A1 receptor antagonists. Journal of medicinal chemistry\| PubMed ID: 17125264	2006
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature\| PubMed ID: 17572665	2007
Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function. Circulation research\| PubMed ID: 18174465	2008
Membrane traffic and muscle: lessons from human disease. Traffic (Copenhagen, Denmark)\| PubMed ID: 18266915	2008
Kindlin-2 is required for myocyte elongation and is essential for myogenesis. BMC cell biology\| PubMed ID: 18611274	2008
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS genetics\| PubMed ID: 19197364	2009
The role of MTMR14 in autophagy and in muscle disease. Autophagy\| PubMed ID: 20595810	2010
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Human molecular genetics\| PubMed ID: 20603324	2010
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. PLoS genetics\| PubMed ID: 21347281	2011
The integrin coactivator kindlin-2 plays a critical role in angiogenesis in mice and zebrafish. Blood\| PubMed ID: 21378273	2011
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscular disorders : NMD\| PubMed ID: 21440438	2011
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular disorders : NMD\| PubMed ID: 21514828	2011
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. PLoS genetics\| PubMed ID: 21655088	2011
Prevalence of congenital myopathies in a representative pediatric united states population. Annals of neurology\| PubMed ID: 22028225	2011
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Human molecular genetics\| PubMed ID: 22068590	2012
Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Disease models & mechanisms\| PubMed ID: 22159874	2012
182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Neuromuscular disorders : NMD\| PubMed ID: 22226685	2012
A novel approach to study motor neurons from zebrafish embryos and larvae in culture. Journal of neuroscience methods\| PubMed ID: 22285259	2012
Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders. Journal of genetic counseling\| PubMed ID: 22367485	2012
Congenital myopathies: an update. Current neurology and neuroscience reports\| PubMed ID: 22392505	2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human mutation\| PubMed ID: 22396310	2012
Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain : a journal of neurology\| PubMed ID: 22418739	2012
Consensus statement on standard of care for congenital myopathies. Journal of child neurology\| PubMed ID: 22431881	2012
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Disease models & mechanisms\| PubMed ID: 22645112	2012
Discovery of novel benzylidene-1,3-thiazolidine-2,4-diones as potent and selective inhibitors of the PIM-1, PIM-2, and PIM-3 protein kinases. Bioorganic & medicinal chemistry letters\| PubMed ID: 22727640	2012
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. American journal of human genetics\| PubMed ID: 22818856	2012
External and internal influences on muscle pathology. Archives of pathology & laboratory medicine\| PubMed ID: 22849742	2012
Neuromuscular effects of G93A-SOD1 expression in zebrafish. Molecular neurodegeneration\| PubMed ID: 22938571	2012
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy\| PubMed ID: 22966490	2012
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. Journal of molecular medicine (Berlin, Germany)\| PubMed ID: 23338057	2013
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain : a journal of neurology\| PubMed ID: 23413262	2013
Two dynamin-2 genes are required for normal zebrafish development. PloS one\| PubMed ID: 23418470	2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular disorders : NMD\| PubMed ID: 23478172	2013
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology\| PubMed ID: 23553484	2013
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nature communications\| PubMed ID: 23736855	2013
Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. The FEBS journal\| PubMed ID: 23809187	2013
Kindlin-2 regulates hemostasis by controlling endothelial cell-surface expression of ADP/AMP catabolic enzymes via a clathrin-dependent mechanism. Blood\| PubMed ID: 23896409	2013
Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet journal of rare diseases\| PubMed ID: 23919265	2013
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? Neurology\| PubMed ID: 23975873	2013
Murine Fig4 is dispensable for muscle development but required for muscle function. Skeletal muscle\| PubMed ID: 24004519	2013
Transcriptional changes and developmental abnormalities in a Zebrafish model of Myotonic Dystrophy Type 1. Disease models & mechanisms\| PubMed ID: 24092878	2013
Defective tubulation associated with the myopathy causing S619L DNM2 mutation. Disease models & mechanisms\| PubMed ID: 24135484	2013
Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure. Disease models & mechanisms\| PubMed ID: 24203884	2013
Approach to the diagnosis of congenital myopathies. Neuromuscular disorders : NMD\| PubMed ID: 24456932	2014
Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish. Frontiers in physiology\| PubMed ID: 24478725	2014
Conditional knockout of pik3c3 causes a murine muscular dystrophy. The American journal of pathology\| PubMed ID: 24726497	2014
Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy. Human molecular genetics\| PubMed ID: 24760771	2014
Potent and Selective Inhibitors of CK2 Kinase Identified through Structure-Guided Hybridization. ACS medicinal chemistry letters\| PubMed ID: 24900464	2012
Structure and Property Based Design of Pyrazolo[1,5-a]pyrimidine Inhibitors of CK2 Kinase with Activity in Vivo. ACS medicinal chemistry letters\| PubMed ID: 24900749	2013
Triadopathies: an emerging class of skeletal muscle diseases. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics\| PubMed ID: 25168790	2014
Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference. Canadian journal of anaesthesia = Journal canadien d'anesthésie\| PubMed ID: 25189431	2014
The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy. Nature medicine\| PubMed ID: 25216637	2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of clinical investigation\| PubMed ID: 25250574	2014
Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology\| PubMed ID: 25361784	2014
Discovery of potent KIFC1 inhibitors using a method of integrated high-throughput synthesis and screening. Journal of medicinal chemistry\| PubMed ID: 25458601	2014
X-linked myopathy with excessive autophagy: a failure of self-eating. Acta neuropathologica\| PubMed ID: 25644398	2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of clinical investigation\| PubMed ID: 25654555	2015