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Publications by Steven A. Moore

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

American Journal of Human Genetics

English

Myopathic Lamin Mutations Cause Reductive Stress and Activate the Nrf2/Keap-1 Pathway

Molecular Biology

Cancer Research

English

Clinical Reasoning: A 30-Year-Old Man With Progressive Weakness and Atrophy

English

Child Neurology: LAMA2 Muscular Dystrophy Without Contractures

English

Aberrant Regulation of Epigenetic Modifiers Contributes to the Pathogenesis in Patients With Selenoprotein N ‐ Related Myopathies

English

Clinical, Genetic, and Pathologic Characterization of FKRP Mexican Founder Mutation C.1387A>G

Neurology: Genetics

English

Absence of Dystrophin Related Protein-2 Disrupts Cajal Bands in a Patient With Charcot–Marie–Tooth Disease

Neuromuscular Disorders

English

Sudden Death and Myocardial Lesions After Damage to Catecholamine Neurons of the Nucleus Tractus Solitarii in Rat

Cellular and Molecular Neurobiology

Molecular Neuroscience

English

Late Adult-Onset of X-Linked Myopathy With Excessive Autophagy

Muscle and Nerve

Molecular Neuroscience

English

Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification

Toxicologic Pathology

Forensic Medicine

Molecular Biology

English