Tuberous Sclerosis

Known as: Bourneville Syndrome, Phacomatosis, Bourneville, TSC 
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and… (More)
National Institutes of Health

Related topics

Related topics

42 relations
AngiomyolipomaAngiomyolipoma of kidneyBenign NeoplasmCardiac rhabdomyoma
(More)

Broader (6)

Congenital DisordersCongenital anomaly of brainCongenital disease of brainDemyelination
(More)

Narrower (5)

Fibrous skin tumor of tuberous sclerosisPolycystic kidneys, severe infantile with tuberous sclerosisTUBEROUS SCLEROSIS 1 (disorder)TUBEROUS SCLEROSIS 2 (disorder)
(More)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
ALS Clinical Trials Review: 20 Years of Failure. Are We Any Closer to Registering a New Treatment?
Amyotrophic lateral sclerosis (ALS) is a devastating condition with an estimated mortality of 30,000 patients a year worldwide… (More)
  • table 1
Is this relevant?
Highly Cited
2008
Highly Cited
2008
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Review
2007
Review
2007
Tuberous sclerosis complex: advances in diagnosis, genetics, and management.
UNLABELLED Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome characterized by the… (More)
Is this relevant?
Review
2006
Review
2006
The tuberous sclerosis complex.
Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex.
OBJECTIVE Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs… (More)
Is this relevant?
Review
2003
Review
2003
Tuberous sclerosis: from tubers to mTOR.
Tuberous sclerosis (TSC) is an autosomal dominant hamartoma syndrome whose causative genes (TSC1 and TSC2) were identified 5 and… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.
Lymphangioleiomyomatosis (LAM) is a progressive and often fatal interstitial lung disease characterized by a diffuse… (More)
  • table 1
  • figure 1
  • figure 2
  • table 2
  • figure 3
Is this relevant?
Review
1998
Review
1998
Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.
At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex… (More)
Is this relevant?
Review
1998
Review
1998
Autism and tuberous sclerosis.
Autism and pervasive developmental disorders (PDD) are common in tuberous sclerosis (TSC). The frequency of autism is about 25… (More)
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Axonal transection in the lesions of multiple sclerosis.
BACKGROUND Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system and is the most common cause… (More)
Is this relevant?