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Tuberous Sclerosis
Known as:
Bourneville Syndrome
, Phacomatosis, Bourneville
, TSC
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Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and…
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National Institutes of Health
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Related topics
Related topics
43 relations
Angiomyolipoma
Angiomyolipoma of kidney
Benign Neoplasm
Benign Uterine Corpus PEComa
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Broader (6)
Congenital Disorders
Congenital anomaly of brain
Congenital disease of brain
Demyelination
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Narrower (5)
Fibrous skin tumor of tuberous sclerosis
Polycystic kidneys, severe infantile with tuberous sclerosis
TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 2 (disorder)
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.
H. Northrup
,
D. Krueger
Pediatric neurology
2013
Corpus ID: 46132854
Highly Cited
2008
Highly Cited
2008
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis.
J. Bissler
,
F. McCormack
,
+9 authors
D. Franz
The New England journal of medicine
2008
Corpus ID: 43304617
BACKGROUND Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated…
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Highly Cited
2008
Highly Cited
2008
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis
D. Ehninger
,
Sangyeul Han
,
+5 authors
Alcino J. Silva
Nature Medicine
2008
Corpus ID: 6486180
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is…
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Highly Cited
2008
Highly Cited
2008
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
L. Zeng
,
Lin Xu
,
D. Gutmann
,
M. Wong
Annals of neurology
2008
Corpus ID: 25334146
Tuberous sclerosis complex (TSC) represents one of the most common genetic causes of epilepsy. TSC gene inactivation leads to…
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Review
2006
Review
2006
The tuberous sclerosis complex.
P. Crino
,
K. Nathanson
,
E. Henske
The New England journal of medicine
2006
Corpus ID: 3579356
From the Department of Neurology (P.B.C.) and the Division of Medical Genetics (K.L.N.), University of Pennsylvania Medical…
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Highly Cited
2006
Highly Cited
2006
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
D. Franz
,
J. Leonard
,
+6 authors
K. Crone
Annals of neurology
2006
Corpus ID: 20466190
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs. Five to…
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Review
1998
Review
1998
Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria
E. Roach
,
Manuel R. Gomez
,
H. Northrup
Journal of child neurology
1998
Corpus ID: 22310240
At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex…
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Highly Cited
1998
Highly Cited
1998
Axonal transection in the lesions of multiple sclerosis.
B. Trapp
,
J. Peterson
,
R. Ransohoff
,
R. Rudick
,
S. Mörk
,
L. Bö
The New England journal of medicine
1998
Corpus ID: 39654448
BACKGROUND Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system and is the most common cause…
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Highly Cited
1995
Highly Cited
1995
Case report.
D. C. Henckel
Journal
1995
Corpus ID: 425061
Background: Fetal cardiac rhabdomyoma is a rare condition. Case: We report a case with cardiac mass discovered in utero by…
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Highly Cited
1993
Highly Cited
1993
Identification and characterization of the tuberous sclerosis gene on chromosome 16
M. Nellist
,
B. Janssen
,
+21 authors
M. Bruening
Cell
1993
Corpus ID: 29476292
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