Manoj P. Menezes

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 582 citations · Full text

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa et al. · Nature Genetics · 2012 · 257 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +6

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C. Oates, Alexander M. Rossor, Majid Hafezparast et al. · The American Journal of Human Genetics · 2013 · 188 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud et al. · Brain · 2013 · 179 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Mendelian Disorder +14

Infectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term Outcome

Sekhar Pillai, Yael Hacohen, Esther Tantsis et al. · PEDIATRICS · 2015 · 136 citations