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Publications by David Mowat
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy
Neural Plasticity
Neurology
Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated With Mental Retardation
American Journal of Human Genetics
Genetics
Related publications
Dysregulation of Synaptogenesis Genes Antecedes Motor Neuron Pathology in Spinal Muscular Atrophy
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Muscle-Specific SMN Reduction Reveals Motor Neuron–independent Disease in Spinal Muscular Atrophy Models
Journal of Clinical Investigation
Medicine
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
Spinal Muscular Atrophy Type 1
Pediatric Critical Care Medicine
Child Health
Critical Care
Pediatrics
Perinatology
Intensive Care Medicine
Salbutamol Increases Survival Motor Neuron (SMN) Transcript Levels in Leucocytes of Spinal Muscular Atrophy (SMA) Patients: Relevance for Clinical Trial Design
Journal of Medical Genetics
Genetics
Autonomic Dysfunction in Spinal Muscular Atrophy
Turkiye Klinikleri Pediatri
Child Health
Pediatrics
Perinatology
Carrier Screening for Spinal Muscular Atrophy
Genetics in Medicine
Medicine
Genetics
Novel Therapeutic Strategies for Spinal Muscular Atrophy
Future Neurology
Neurology
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
