Departments of Pediatrics and Neurology
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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation Jan, 2002 | Pubmed ID: 11754098
The measurement of body segment inertial parameters using dual energy X-ray absorptiometry.
Journal of biomechanics Dec, 2002 | Pubmed ID: 12445610
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
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
Using mass distribution information to model the human thigh for body segment parameter estimation.
Journal of biomechanical engineering Jun, 2005 | Pubmed ID: 16060352
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
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
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Nature Jul, 2007 | Pubmed ID: 17572665
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
Membrane traffic and muscle: lessons from human disease.
Traffic (Copenhagen, Denmark) Jul, 2008 | Pubmed ID: 18266915
Kindlin-2 is required for myocyte elongation and is essential for myogenesis.
BMC cell biology , 2008 | Pubmed ID: 18611274
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
PLoS genetics Feb, 2009 | Pubmed ID: 19197364
The role of MTMR14 in autophagy and in muscle disease.
Autophagy Aug, 2010 | Pubmed ID: 20595810
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.
Human molecular genetics Sep, 2010 | Pubmed ID: 20603324
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.
PLoS genetics , 2011 | Pubmed ID: 21347281
The integrin coactivator kindlin-2 plays a critical role in angiogenesis in mice and zebrafish.
Blood May, 2011 | Pubmed ID: 21378273
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.
Neuromuscular disorders : NMD Jun, 2011 | Pubmed ID: 21440438
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Neuromuscular disorders : NMD Jun, 2011 | Pubmed ID: 21514828
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
PLoS genetics Jun, 2011 | Pubmed ID: 21655088
Prevalence of congenital myopathies in a representative pediatric united states population.
Annals of neurology Oct, 2011 | Pubmed ID: 22028225
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
Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.
Disease models & mechanisms May, 2012 | Pubmed ID: 22159874
182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.
Neuromuscular disorders : NMD May, 2012 | Pubmed ID: 22226685
A novel approach to study motor neurons from zebrafish embryos and larvae in culture.
Journal of neuroscience methods Jan, 2012 | Pubmed ID: 22285259
Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders.
Journal of genetic counseling Oct, 2012 | Pubmed ID: 22367485
Congenital myopathies: an update.
Current neurology and neuroscience reports Apr, 2012 | Pubmed ID: 22392505
Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.
Brain : a journal of neurology Apr, 2012 | Pubmed ID: 22418739
Consensus statement on standard of care for congenital myopathies.
Journal of child neurology Mar, 2012 | Pubmed ID: 22431881
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.
Disease models & mechanisms Nov, 2012 | Pubmed ID: 22645112
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
Neuromuscular effects of G93A-SOD1 expression in zebrafish.
Molecular neurodegeneration , 2012 | Pubmed ID: 22938571
Guidelines for the use and interpretation of assays for monitoring autophagy.
Autophagy Apr, 2012 | Pubmed ID: 22966490
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
Journal of molecular medicine (Berlin, Germany) Jun, 2013 | Pubmed ID: 23338057
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
Two dynamin-2 genes are required for normal zebrafish development.
PloS one , 2013 | Pubmed ID: 23418470
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
Neuromuscular disorders : NMD May, 2013 | Pubmed ID: 23478172
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
Neurology Apr, 2013 | Pubmed ID: 23553484
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
Nature communications , 2013 | Pubmed ID: 23736855
Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.
The FEBS journal Jun, 2013 | Pubmed ID: 23809187
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
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Orphanet journal of rare diseases , 2013 | Pubmed ID: 23919265
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations?
Neurology Oct, 2013 | Pubmed ID: 23975873
Murine Fig4 is dispensable for muscle development but required for muscle function.
Skeletal muscle Sep, 2013 | Pubmed ID: 24004519
Transcriptional changes and developmental abnormalities in a Zebrafish model of Myotonic Dystrophy Type 1.
Disease models & mechanisms Oct, 2013 | Pubmed ID: 24092878
Defective tubulation associated with the myopathy causing S619L DNM2 mutation.
Disease models & mechanisms Oct, 2013 | Pubmed ID: 24135484
Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure.
Disease models & mechanisms Nov, 2013 | Pubmed ID: 24203884
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