Robert McWilliam
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Cerebral Palsy and Movement Disorders, Epigenetics and DNA Methylation, Ophthalmology and Visual Impairment Studies
Most-Cited Works
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Brain involvement in muscular dystrophies with defective dystroglycan glycosylation(2008)178 cited
- → Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C(2008)109 cited
- → Muscle ultrasound in the assessment of suspected neuromuscular disease in childhood(1999)79 cited
- → Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21(2000)78 cited
- → Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia(2009)49 cited
- → Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature(2014)48 cited
- → "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.(1998)42 cited
- → Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?(1985)37 cited
- → The movement disorders of Coffin–Lowry syndrome(2004)35 cited