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

Papers overview

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Review
2017
Review
2017
Amyotrophic lateral sclerosis (ALS) is a devastating condition with an estimated mortality of 30,000 patients a year worldwide… (More)
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Highly Cited
2008
Highly Cited
2008
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is… (More)
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Review
2007
Review
2007
UNLABELLED Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome characterized by the… (More)
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Review
2006
Review
2006
Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes… (More)
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Highly Cited
2006
Highly Cited
2006
OBJECTIVE Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs… (More)
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Review
2003
Review
2003
Tuberous sclerosis (TSC) is an autosomal dominant hamartoma syndrome whose causative genes (TSC1 and TSC2) were identified 5 and… (More)
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Highly Cited
2000
Highly Cited
2000
Lymphangioleiomyomatosis (LAM) is a progressive and often fatal interstitial lung disease characterized by a diffuse… (More)
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Review
1998
Review
1998
At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex… (More)
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Review
1998
Review
1998
Autism and pervasive developmental disorders (PDD) are common in tuberous sclerosis (TSC). The frequency of autism is about 25… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system and is the most common cause… (More)
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