James Dowling

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Diabetic foot ulcers and infections: current concepts.

Explaining differences in the metabolic cost and efficiency of treadmill locomotion in children.

The measurement of body segment inertial parameters using dual energy X-ray absorptiometry.

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.

Analysis of body segment parameter differences between four human populations and the estimation errors of four popular mathematical models.

Design and responses of Butterworth and critically damped digital filters.

Using mass distribution information to model the human thigh for body segment parameter estimation.

Synthesis of [1,2,4]triazolo[1,5-a]pyrazines as adenosine A2A receptor antagonists.

The uncertainty of the pendulum method for the determination of the moment of inertia.

Predicting in vivo soft tissue masses of the lower extremity using segment anthropometric measures and DXA.

Body segment parameter estimation of the human lower leg using an elliptical model with validation from DEXA.

Potent and orally bioavailable 8-bicyclo[2.2.2]octylxanthines as adenosine A1 receptor antagonists.

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function.

Membrane traffic and muscle: lessons from human disease.

Kindlin-2 is required for myocyte elongation and is essential for myogenesis.

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

The role of MTMR14 in autophagy and in muscle disease.

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.

Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.

The integrin coactivator kindlin-2 plays a critical role in angiogenesis in mice and zebrafish.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.

Prevalence of congenital myopathies in a representative pediatric united states population.

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.

A novel approach to study motor neurons from zebrafish embryos and larvae in culture.

Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders.

Congenital myopathies: an update.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.

Consensus statement on standard of care for congenital myopathies.

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

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.

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

External and internal influences on muscle pathology.

Neuromuscular effects of G93A-SOD1 expression in zebrafish.

Guidelines for the use and interpretation of assays for monitoring autophagy.

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Two dynamin-2 genes are required for normal zebrafish development.

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

Kindlin-2 regulates hemostasis by controlling endothelial cell-surface expression of ADP/AMP catabolic enzymes via a clathrin-dependent mechanism.

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations?

Murine Fig4 is dispensable for muscle development but required for muscle function.

Transcriptional changes and developmental abnormalities in a Zebrafish model of Myotonic Dystrophy Type 1.

Defective tubulation associated with the myopathy causing S619L DNM2 mutation.

Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure.

Approach to the diagnosis of congenital myopathies.

Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish.

Conditional knockout of pik3c3 causes a murine muscular dystrophy.

Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy.

Potent and Selective Inhibitors of CK2 Kinase Identified through Structure-Guided Hybridization.

Structure and Property Based Design of Pyrazolo[1,5-a]pyrimidine Inhibitors of CK2 Kinase with Activity in Vivo.

Triadopathies: an emerging class of skeletal muscle diseases.

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.

The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

Discovery of potent KIFC1 inhibitors using a method of integrated high-throughput synthesis and screening.

X-linked myopathy with excessive autophagy: a failure of self-eating.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.