Manoj P. Menezes
The University of Sydney(AU)Children's Hospital at Westmead(AU)Sydney Children's Hospital(AU)Sydney Children’s Hospitals Network(AU)The University of Texas Southwestern Medical Center(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Metabolism and Genetic Disorders, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration(2012)259 cited
- → Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia(2013)189 cited
- → Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2(2013)179 cited
- → Infectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term Outcome(2015)140 cited
- → An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation(2012)132 cited