James Dowling

Publications

• Leiomodin-3 Dysfunction Results in Thin Filament Disorganization and Nemaline Myopathy
  The Journal of Clinical Investigation. Jan, 2015  |   Pubmed ID: 25654555
• X-linked Myopathy with Excessive Autophagy: a Failure of Self-eating
  Acta Neuropathologica. Mar, 2015  |   Pubmed ID: 25644398
• Discovery of Potent KIFC1 Inhibitors Using a Method of Integrated High-throughput Synthesis and Screening
  Journal of Medicinal Chemistry. Dec, 2014  |   Pubmed ID: 25458601
• Homozygous Splice Mutation in CWF19L1 in a Turkish Family with Recessive Ataxia Syndrome
  Neurology. Dec, 2014  |   Pubmed ID: 25361784
• Leiomodin-3 Dysfunction Results in Thin Filament Disorganization and Nemaline Myopathy
  The Journal of Clinical Investigation. Nov, 2014  |   Pubmed ID: 25250574
• The Intracellular Ca²⁺ Channel MCOLN1 is Required for Sarcolemma Repair to Prevent Muscular Dystrophy
  Nature Medicine. Oct, 2014  |   Pubmed ID: 25216637
• 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. Nov, 2014  |   Pubmed ID: 25189431
• Triadopathies: an Emerging Class of Skeletal Muscle Diseases
  Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics. Oct, 2014  |   Pubmed ID: 25168790
• Fluoxetine Prevents Dystrophic Changes in a Zebrafish Model of Duchenne Muscular Dystrophy
  Human Molecular Genetics. Sep, 2014  |   Pubmed ID: 24760771
• Conditional Knockout of Pik3c3 Causes a Murine Muscular Dystrophy
  The American Journal of Pathology. Jun, 2014  |   Pubmed ID: 24726497
• Membrane-myofibril Cross-talk in Myofibrillogenesis and in Muscular Dystrophy Pathogenesis: Lessons from the Zebrafish
  Frontiers in Physiology. 2014  |   Pubmed ID: 24478725
• Approach to the Diagnosis of Congenital Myopathies
  Neuromuscular Disorders : NMD. Feb, 2014  |   Pubmed ID: 24456932
• Structure and Property Based Design of Pyrazolo[1,5-a]pyrimidine Inhibitors of CK2 Kinase with Activity in Vivo
  ACS Medicinal Chemistry Letters. Aug, 2013  |   Pubmed ID: 24900749
• Impaired Embryonic Motility in Dusp27 Mutants Reveals a Developmental Defect in Myofibril Structure
  Disease Models & Mechanisms. Nov, 2013  |   Pubmed ID: 24203884
• Defective Tubulation Associated with the Myopathy Causing S619L DNM2 Mutation
  Disease Models & Mechanisms. Oct, 2013  |   Pubmed ID: 24135484
• Transcriptional Changes and Developmental Abnormalities in a Zebrafish Model of Myotonic Dystrophy Type 1
  Disease Models & Mechanisms. Oct, 2013  |   Pubmed ID: 24092878
• Murine Fig4 is Dispensable for Muscle Development but Required for Muscle Function
  Skeletal Muscle. Sep, 2013  |   Pubmed ID: 24004519
• Titin and Centronuclear Myopathy: The Tip of the Iceberg for TTN-ic Mutations?
  Neurology. Oct, 2013  |   Pubmed ID: 23975873
• Genotype-phenotype Correlations in Recessive RYR1-related Myopathies
  Orphanet Journal of Rare Diseases. 2013  |   Pubmed ID: 23919265
• Kindlin-2 Regulates Hemostasis by Controlling Endothelial Cell-surface Expression of ADP/AMP Catabolic Enzymes Via a Clathrin-dependent Mechanism
  Blood. Oct, 2013  |   Pubmed ID: 23896409
• Swimming into Prominence: the Zebrafish As a Valuable Tool for Studying Human Myopathies and Muscular Dystrophies
  The FEBS Journal. Jun, 2013  |   Pubmed ID: 23809187
• Stac3 is a Component of the Excitation-contraction Coupling Machinery and Mutated in Native American Myopathy
  Nature Communications. 2013  |   Pubmed ID: 23736855
• Severe Congenital RYR1-associated Myopathy: the Expanding Clinicopathologic and Genetic Spectrum
  Neurology. Apr, 2013  |   Pubmed ID: 23553484
• A Novel Mutation Expands the Genetic and Clinical Spectrum of MYH7-related Myopathies
  Neuromuscular Disorders : NMD. May, 2013  |   Pubmed ID: 23478172
• Two Dynamin-2 Genes Are Required for Normal Zebrafish Development
  PloS One. 2013  |   Pubmed ID: 23418470
• Novel Deletion of Lysine 7 Expands the Clinical, Histopathological and Genetic Spectrum of TPM2-related Myopathies
  Brain : a Journal of Neurology. Feb, 2013  |   Pubmed ID: 23413262
• Neuromuscular Junction Abnormalities in DNM2-related Centronuclear Myopathy
  Journal of Molecular Medicine (Berlin, Germany). Jun, 2013  |   Pubmed ID: 23338057
• Potent and Selective Inhibitors of CK2 Kinase Identified Through Structure-Guided Hybridization
  ACS Medicinal Chemistry Letters. Apr, 2012  |   Pubmed ID: 24900464
• Guidelines for the Use and Interpretation of Assays for Monitoring Autophagy
  Autophagy. Apr, 2012  |   Pubmed ID: 22966490
• Neuromuscular Effects of G93A-SOD1 Expression in Zebrafish
  Molecular Neurodegeneration. 2012  |   Pubmed ID: 22938571
• External and Internal Influences on Muscle Pathology
  Archives of Pathology & Laboratory Medicine. Aug, 2012  |   Pubmed ID: 22849742
• Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
  American Journal of Human Genetics. Aug, 2012  |   Pubmed ID: 22818856
• 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. Jul, 2012  |   Pubmed ID: 22727640
• Myotubular Myopathy and the Neuromuscular Junction: a Novel Therapeutic Approach from Mouse Models
  Disease Models & Mechanisms. Nov, 2012  |   Pubmed ID: 22645112
• Consensus Statement on Standard of Care for Congenital Myopathies
  Journal of Child Neurology. Mar, 2012  |   Pubmed ID: 22431881
• Oxidative Stress and Successful Antioxidant Treatment in Models of RYR1-related Myopathy
  Brain : a Journal of Neurology. Apr, 2012  |   Pubmed ID: 22418739
• Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
  Human Mutation. Jun, 2012  |   Pubmed ID: 22396310
• Congenital Myopathies: an Update
  Current Neurology and Neuroscience Reports. Apr, 2012  |   Pubmed ID: 22392505
• Quality of Life and Autonomy in Emerging Adults with Early-onset Neuromuscular Disorders
  Journal of Genetic Counseling. Oct, 2012  |   Pubmed ID: 22367485
• A Novel Approach to Study Motor Neurons from Zebrafish Embryos and Larvae in Culture
  Journal of Neuroscience Methods. Jan, 2012  |   Pubmed ID: 22285259
• 182nd ENMC International Workshop: RYR1-related Myopathies, 15-17th April 2011, Naarden, The Netherlands
  Neuromuscular Disorders : NMD. May, 2012  |   Pubmed ID: 22226685
• Neb: a Zebrafish Model of Nemaline Myopathy Due to Nebulin Mutation
  Disease Models & Mechanisms. May, 2012  |   Pubmed ID: 22159874
• 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. Feb, 2012  |   Pubmed ID: 22068590
• Prevalence of Congenital Myopathies in a Representative Pediatric United States Population
  Annals of Neurology. Oct, 2011  |   Pubmed ID: 22028225
• Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J
  PLoS Genetics. Jun, 2011  |   Pubmed ID: 21655088
• King-Denborough Syndrome with and Without Mutations in the Skeletal Muscle Ryanodine Receptor (RYR1) Gene
  Neuromuscular Disorders : NMD. Jun, 2011  |   Pubmed ID: 21514828
• Impaired Neuromuscular Transmission and Response to Acetylcholinesterase Inhibitors in Centronuclear Myopathies
  Neuromuscular Disorders : NMD. Jun, 2011  |   Pubmed ID: 21440438
• The Integrin Coactivator Kindlin-2 Plays a Critical Role in Angiogenesis in Mice and Zebrafish
  Blood. May, 2011  |   Pubmed ID: 21378273
• Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance
  PLoS Genetics. 2011  |   Pubmed ID: 21347281
• CUGBP1 Overexpression in Mouse Skeletal Muscle Reproduces Features of Myotonic Dystrophy Type 1
  Human Molecular Genetics. Sep, 2010  |   Pubmed ID: 20603324
• The Role of MTMR14 in Autophagy and in Muscle Disease
  Autophagy. Aug, 2010  |   Pubmed ID: 20595810
• Loss of Myotubularin Function Results in T-tubule Disorganization in Zebrafish and Human Myotubular Myopathy
  PLoS Genetics. Feb, 2009  |   Pubmed ID: 19197364
• Kindlin-2 is Required for Myocyte Elongation and is Essential for Myogenesis
  BMC Cell Biology. 2008  |   Pubmed ID: 18611274
• Membrane Traffic and Muscle: Lessons from Human Disease
  Traffic (Copenhagen, Denmark). Jul, 2008  |   Pubmed ID: 18266915
• Kindlin-2 is an Essential Component of Intercalated Discs and is Required for Vertebrate Cardiac Structure and Function
  Circulation Research. Feb, 2008  |   Pubmed ID: 18174465
• Mutation of FIG4 Causes Neurodegeneration in the Pale Tremor Mouse and Patients with CMT4J
  Nature. Jul, 2007  |   Pubmed ID: 17572665
• Potent and Orally Bioavailable 8-bicyclo[2.2.2]octylxanthines As Adenosine A1 Receptor Antagonists
  Journal of Medicinal Chemistry. Nov, 2006  |   Pubmed ID: 17125264
• Body Segment Parameter Estimation of the Human Lower Leg Using an Elliptical Model with Validation from DEXA
  Annals of Biomedical Engineering. Sep, 2006  |   Pubmed ID: 16847589
• The Uncertainty of the Pendulum Method for the Determination of the Moment of Inertia
  Medical Engineering & Physics. Oct, 2006  |   Pubmed ID: 16442329
• Predicting in Vivo Soft Tissue Masses of the Lower Extremity Using Segment Anthropometric Measures and DXA
  Journal of Applied Biomechanics. Nov, 2005  |   Pubmed ID: 16498182
• Synthesis of [1,2,4]triazolo[1,5-a]pyrazines As Adenosine A2A Receptor Antagonists
  Bioorganic & Medicinal Chemistry Letters. Nov, 2005  |   Pubmed ID: 16153830
• Using Mass Distribution Information to Model the Human Thigh for Body Segment Parameter Estimation
  Journal of Biomechanical Engineering. Jun, 2005  |   Pubmed ID: 16060352
• Design and Responses of Butterworth and Critically Damped Digital Filters
  Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology. Dec, 2003  |   Pubmed ID: 14573371
• Analysis of Body Segment Parameter Differences Between Four Human Populations and the Estimation Errors of Four Popular Mathematical Models
  Journal of Biomechanical Engineering. Aug, 2003  |   Pubmed ID: 12968576
• 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. Jul, 2003  |   Pubmed ID: 12825074
• The Measurement of Body Segment Inertial Parameters Using Dual Energy X-ray Absorptiometry
  Journal of Biomechanics. Dec, 2002  |   Pubmed ID: 12445610
• Explaining Differences in the Metabolic Cost and Efficiency of Treadmill Locomotion in Children
  Journal of Sports Sciences. Jun, 2002  |   Pubmed ID: 12137175
• Diabetic Foot Ulcers and Infections: Current Concepts
  Advances in Skin & Wound Care. Jan-Feb, 2002  |   Pubmed ID: 11905449
• Clinical and Molecular Basis of Classical Lissencephaly: Mutations in the LIS1 Gene (PAFAH1B1)
  Human Mutation. Jan, 2002  |   Pubmed ID: 11754098