Robuta

U.S. News & World Report has ranked New York-Presbyterian among the top pediatric neurology and neurosurgery programs in the country, reflecting our reputation...

This uncommon genetic disorder causes tumors that are not cancer. These tumors are unexpected overgrowths of tissue in different parts of the body.

Tuberous Sclerosis is a rare genetic disorder that causes non-cancerous tumors to grow in various parts of the body. These tumors can appear in the brain, skin,

Codon 905 missense mutations in TSC2 are relatively common. The TSC2 R905Q mutation is associated with unusually mild disease, consistent with functional...

The Carol and James Herscot Center for Children and Adults with tuberous sclerosis complex at Massachusetts General Hospital delivers specialized care for a...

Our findings provide information on variability in MVAF and risk of transmission that has broad implications for other mosaic genetic disorders.

Tuberous sclerosis can present in individuals of all ages, ethnicity and gender and is estimated to affect 2,000,000 people worldwide.

Tuberous Sclerosis: Unusual Findings in the Setting of a Rare Disease

Doctors at NewYork-Presbyterian/Morgan Stanley Children's Hospital provide specialized treatment for children with tuberous sclerosis complex (TSC), a genetic...

DYRK1A, a kinase associated with intellectual developmental disorders and organ growth regulation, functions in cell growth by promoting mTORC1 activity.

Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, heart, and lungs. The condition can also cause tumors to grow in...

Effects from mTOR overactivity on white matter microstructural integrity in TSC were modified through pharmacologic inhibition of mTOR. These changes sustained...