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Tuberous sclerosis complex.
Islam MP, Roach ES. Islam MP, et al. Handb Clin Neurol. 2015;132:97-109. doi: 10.1016/B978-0-444-62702-5.00006-8. Handb Clin Neurol. 2015. PMID: 26564073 Review.
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. ...These two proteins form a functional complex that modulates the mammalian target of rapamycin (mTOR) pathway. ...
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs …
Tuberous sclerosis.
Roach ES, Delgado MR. Roach ES, et al. Dermatol Clin. 1995 Jan;13(1):151-61. Dermatol Clin. 1995. PMID: 7712641 Review.
Tuberous sclerosis complex is a disorder of cellular differentiation and proliferation that is inherited as an autosomal dominant trait with variable penetrance and a high spontaneous mutation rate. Lesions occur in the brain, skin, kidneys, heart, and other organs. …
Tuberous sclerosis complex is a disorder of cellular differentiation and proliferation that is inherited as an autosomal dominant tra …
Brain abnormalities in tuberous sclerosis complex.
DiMario FJ Jr. DiMario FJ Jr. J Child Neurol. 2004 Sep;19(9):650-7. doi: 10.1177/08830738040190090401. J Child Neurol. 2004. PMID: 15563010 Review.
The variable expression of severity, the potential for cognitive dysfunction, and epilepsy compound the clinical picture. The intracranial abnormalities include the identification of migration and hamartomatous brain lesions, such as tubers, subependymal nodules, an …
The variable expression of severity, the potential for cognitive dysfunction, and epilepsy compound the clinical picture. The intracranial …
Behavioral and cognitive aspects of tuberous sclerosis complex.
Prather P, de Vries PJ. Prather P, et al. J Child Neurol. 2004 Sep;19(9):666-74. doi: 10.1177/08830738040190090601. J Child Neurol. 2004. PMID: 15563012 Review.
Tuberous sclerosis complex is a multisystem genetic disorder. Of all the possible manifestations of this complex disorder, the cognitive and behavioral problems represent the area of greatest concern to parents and caregivers. ...The evolving neurocognitive literatu …
Tuberous sclerosis complex is a multisystem genetic disorder. Of all the possible manifestations of this complex disorder, the …
Aberrant cellular differentiation and migration in renal and pulmonary tuberous sclerosis complex.
Astrinidis A, Henske EP. Astrinidis A, et al. J Child Neurol. 2004 Sep;19(9):710-5. doi: 10.1177/08830738040190091201. J Child Neurol. 2004. PMID: 15563018 Review.
This review is focused on pathways and mechanisms that might provide molecular links between the pathogenesis of renal and pulmonary disease in tuberous sclerosis complex and the pathogenesis of the neurologic manifestations of tuberous sclerosis complex. Tuberous s …
This review is focused on pathways and mechanisms that might provide molecular links between the pathogenesis of renal and pulmonary disease …
Cutaneous Manifestations of Tuberous Sclerosis.
Bakić M, Ratković M, Gledović B, Vujović B, Radunović D, Babić V, Prelević V. Bakić M, et al. Acta Dermatovenerol Croat. 2018 Apr;26(1):73-74. Acta Dermatovenerol Croat. 2018. PMID: 29782307 Review.
During the last hospitalization in February 2016, the following tests were performed: cranial magnet resonance imaging (MRI) findings showed the existence of visible changes in the signal in the form of ectopic tuber tissue in the region of the cortex and subcortical white matter …
During the last hospitalization in February 2016, the following tests were performed: cranial magnet resonance imaging (MRI) findings showed …
Tuberous sclerosis complex: advances in diagnosis, genetics, and management.
Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. Schwartz RA, et al. J Am Acad Dermatol. 2007 Aug;57(2):189-202. doi: 10.1016/j.jaad.2007.05.004. J Am Acad Dermatol. 2007. PMID: 17637444 Review.
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome characterized by the development of multiple hamartomas distributed throughout the body, skin, brain, heart, kidneys, liver, and lungs. ...Two tumor suppressor genes …
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome characterized by the development …
Rapamycin and rapalogs for tuberous sclerosis complex.
Sasongko TH, Ismail NF, Zabidi-Hussin Z. Sasongko TH, et al. Cochrane Database Syst Rev. 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. Cochrane Database Syst Rev. 2016. PMID: 27409709 Free PMC article. Updated. Review.
Food and Drug Administration) and the EMA (European Medicines Agency) for tuberous sclerosis complex-associated renal angiomyolipoma and subependymal giant cell astrocytoma, applications for other manifestations of tuberous sclerosis complex have not yet been establ …
Food and Drug Administration) and the EMA (European Medicines Agency) for tuberous sclerosis complex-associated renal angiomyolipoma …
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.
Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A. Zöllner JP, et al. Orphanet J Rare Dis. 2021 Jun 2;16(1):250. doi: 10.1186/s13023-021-01838-w. Orphanet J Rare Dis. 2021. PMID: 34078440 Free PMC article. Review.
BACKGROUND: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. ...Reported TSC disease manifestations included skin (94.8%) and kidney and urinary tract (74%) disorders, epilepsy (72.9 …
BACKGROUND: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TS …
Tuberous sclerosis-related gene expression in normal and dysplastic brain.
Vinters HV, Kerfoot C, Catania M, Emelin JK, Roper SN, DeClue JE. Vinters HV, et al. Epilepsy Res. 1998 Sep;32(1-2):12-23. doi: 10.1016/s0920-1211(98)00036-9. Epilepsy Res. 1998. PMID: 9761305 Review.
Cortical dysplasia (CD) broadly defines a complex cerebral malformative lesion associated clinically with intractable, pharmacoresistant epilepsy (including infantile spasms), especially in infants and children. In CD, the spectrum of structural bra …
Cortical dysplasia (CD) broadly defines a complex cerebral malformative lesion associated clinically with intrac …