Umrao R. Monani
Columbia University Irving Medical Center(US)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery, RNA Research and Splicing, Diet and metabolism studies
Most-Cited Works
- → The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy(2000)726 cited
- → Smn, the spinal muscular atrophy–determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons(2003)622 cited
- → SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN(2005)595 cited
- → Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy(2008)433 cited
- → Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding(2003)419 cited
- → Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease(2005)344 cited
- → Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group(2020)263 cited
- → Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy(2004)198 cited
- → Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy(2011)170 cited
- → Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric ( SMN2 ) Gene(2010)168 cited