Alan H. Beggs

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.

Telethonin protein expression in neuromuscular disorders.

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle.

Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance.

Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.

Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.

Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.

Reproducibility of gene expression across generations of Affymetrix microarrays.

ACTN3 genotype is associated with human elite athletic performance.

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Transcriptional profile of postmortem skeletal muscle.

Expression profiling and identification of novel genes involved in myogenic differentiation.

Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Variations in gene expression among different types of human skeletal muscle.

X-linked myotubular and centronuclear myopathies.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

The influence of muscle type and dystrophin deficiency on murine expression profiles.

Evidence by molecular profiling for a placental origin of infantile hemangioma.

Adult-onset nemaline myopathy and monoclonal gammopathy.

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion.

Skeletal muscle repair in a mouse model of nemaline myopathy.

Selenoproteins and their impact on human health through diverse physiological pathways.

Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.

Distinctive patterns of microRNA expression in primary muscular disorders.

Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis.

Dynamic regulation of endothelial NOS mediated by competitive interaction with alpha-actinin-4 and calmodulin.

Multiplex PCR for identifying DMD gene deletions.

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population.

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction.

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

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

α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

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

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

Clinical utility gene card for: Centronuclear and myotubular myopathies.

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

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

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

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

Muscle function in a canine model of X-linked myotubular myopathy.

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

Selenoprotein N deficiency in mice is associated with abnormal lung development.

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - Support for the role of K(ATP) channels in this condition.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.