Tuberous sclerosis (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Tuberous sclerosis" in English language version.

refsWebsite

Global rank English rank

46nih.gov

4^th place

32doi.org

2^nd place

9semanticscholar.org

11^th place

8^th place

4worldcat.org

5^th place

4web.archive.org

1^st place

1jurology.com

low place

1harvard.edu

18^th place

17^th place

1psu.edu

207^th place

136^th place

1uhb.nhs.uk

low place

1fda.gov

447^th place

338^th place

1cancer.gov

1,684^th place

1,350^th place

1globenewswire.com

2,614^th place

1,549^th place

1oup.com

485^th place

440^th place

1tsdev.de

low place

cancer.gov

"FDA Approval for Everolimus". National Cancer Institute. 21 April 2009. Archived from the original on 11 February 2017. Retrieved 8 February 2017.

doi.org

Islam, Monica P.; Roach, E. Steve (2015). "Tuberous sclerosis complex". Neurocutaneous Syndromes. Handbook of Clinical Neurology. Vol. 132. pp. 97–109. doi:10.1016/B978-0-444-62702-5.00006-8. ISBN 9780444627025. PMID 26564073.
O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN (May 1998). "Prevalence of tuberous sclerosis estimated by capture-recapture analysis". Lancet. 351 (9114): 1490. doi:10.1016/S0140-6736(05)78872-3. PMID 9605811. S2CID 9262685.
Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M (October 2005). "Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations". Human Mutation. 26 (4): 374–83. doi:10.1002/humu.20227. PMID 16114042. S2CID 10571695.
Brigo F, Lattanzi S, Trinka E, Nardone R, Bragazzi NL, Ruggieri M, et al. (December 2018). "First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840-1909)". Neuropathology. 38 (6): 577–582. doi:10.1111/neup.12515. PMID 30215888. S2CID 52269610.
Ridler K, Suckling J, Higgins N, Bolton P, Bullmore E (September 2004). "Standardized whole brain mapping of tubers and subependymal nodules in tuberous sclerosis complex". Journal of Child Neurology. 19 (9): 658–65. doi:10.1177/08830738040190090501. PMID 15563011. S2CID 23176067.
de Vries PJ, Wilde L, de Vries MC, Moavero R, Pearson DA, Curatolo P (September 2018). "A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178 (3): 309–320. doi:10.1002/ajmg.c.31637. PMC 6209538. PMID 30117265.
Lendvay, Thomas S.; Marshall, Fray F. (May 2003). "The Tuberous Sclerosis Complex and its Highly Variable Manifestations". Journal of Urology. 169 (5): 1635–1642. doi:10.1097/01.ju.0000058253.40352.60. ISSN 0022-5347. PMID 12686801.
Henske EP (December 2003). "Metastasis of benign tumor cells in tuberous sclerosis complex". Genes, Chromosomes & Cancer. 38 (4): 376–81. doi:10.1002/gcc.10252. PMID 14566858. S2CID 22211249.
Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (November 2014). "Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group". Journal of the American Heart Association. 3 (6): e001493. doi:10.1161/JAHA.114.001493. PMC 4338742. PMID 25424575.
Northrup H, Krueger DA (October 2013). "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference". Pediatric Neurology. 49 (4): 243–54. doi:10.1016/j.pediatrneurol.2013.08.001. PMC 4080684. PMID 24053982.
Randle SC (April 2017). "Tuberous Sclerosis Complex: A Review". Pediatric Annals. 46 (4): e166 – e171. doi:10.3928/19382359-20170320-01. PMID 28414398.
Arva NC, Pappas JG, Bhatla T, Raetz EA, Macari M, Ginsburg HB, Hajdu CH (January 2012). "Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature". The American Journal of Surgical Pathology. 36 (1): 149–53. doi:10.1097/PAS.0b013e31823d0560. PMID 22173120.
Baraitser M, Patton MA (February 1985). "Reduced penetrance in tuberous sclerosis". Journal of Medical Genetics. 22 (1): 29–31. doi:10.1136/jmg.22.1.29. PMC 1049373. PMID 3981577.
Young J, Povey S (July 1998). "The genetic basis of tuberous sclerosis". Molecular Medicine Today. 4 (7): 313–9. doi:10.1016/S1357-4310(98)01245-3. PMID 9743993.
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, et al. (August 1997). "Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34". Science. 277 (5327): 805–808. doi:10.1126/science.277.5327.805. PMID 9242607.
European Chromosome 16 Tuberous Sclerosis Consortium (31 December 1993). "Identification and characterization of the tuberous sclerosis gene on chromosome 16". Cell. 75 (7): 1305–15. doi:10.1016/0092-8674(93)90618-Z. PMID 8269512. S2CID 29476292.
Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR (December 1994). "Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome". Nature Genetics. 8 (4): 328–32. doi:10.1038/ng1294-328. PMID 7894481. S2CID 23793670.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ (January 2001). "Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs". American Journal of Human Genetics. 68 (1): 64–80. doi:10.1086/316951. PMC 1234935. PMID 11112665.
Pal R, Xiong Y, Sardiello M (February 2019). "Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways". Proc Natl Acad Sci U S A. 116 (8): 2977–2986. Bibcode:2019PNAS..116.2977P. doi:10.1073/pnas.1812943116. PMC 6386676. PMID 30728291.
Crino PB, Nathanson KL, Henske EP (September 2006). "The tuberous sclerosis complex". The New England Journal of Medicine. 355 (13): 1345–56. CiteSeerX 10.1.1.319.8438. doi:10.1056/NEJMra055323. PMID 17005952.
Krueger DA, Northrup H (October 2013). "Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference". Pediatric Neurology. 49 (4): 255–65. doi:10.1016/j.pediatrneurol.2013.08.002. PMC 4058297. PMID 24053983.
Sasongko TH, Kademane K, Chai Soon Hou S, Jocelyn TX, Zabidi-Hussin Z (July 2023). "Rapamycin and rapalogs for tuberous sclerosis complex". The Cochrane Database of Systematic Reviews. 2023 (7): CD011272. doi:10.1002/14651858.CD011272.pub3. PMC 10334695. PMID 37432030.
French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, et al. (October 2016). "Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study". Lancet. 388 (10056): 2153–2163. doi:10.1016/s0140-6736(16)31419-2. PMID 27613521.
Capal JK, Franz DN (2016). "Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy". Neuropsychiatric Disease and Treatment. 12: 2165–2172. doi:10.2147/NDT.S91248. PMC 5003595. PMID 27601910.
Asano E, Juhász C, Shah A, Muzik O, Chugani DC, Shah J, Sood S, Chugani HT (July 2005). "Origin and propagation of epileptic spasms delineated on electrocorticography". Epilepsia. 46 (7): 1086–97. doi:10.1111/j.1528-1167.2005.05205.x. PMC 1360692. PMID 16026561.
Chugani HT, Luat AF, Kumar A, Govindan R, Pawlik K, Asano E (August 2013). "α-[11C]-Methyl-L-tryptophan--PET in 191 patients with tuberous sclerosis complex". Neurology. 81 (7): 674–80. doi:10.1212/WNL.0b013e3182a08f3f. PMC 3775695. PMID 23851963.
Hong AM, Turner Z, Hamdy RF, Kossoff EH (August 2010). "Infantile spasms treated with the ketogenic diet: prospective single-center experience in 104 consecutive infants". Epilepsia. 51 (8): 1403–407. doi:10.1111/j.1528-1167.2010.02586.x. PMID 20477843. S2CID 26666421.
Jacks SK, Witman PM (September–October 2015). "Tuberous Sclerosis Complex: An Update for Dermatologists". Pediatric Dermatology. 32 (5): 563–70. doi:10.1111/pde.12567. PMID 25776100. S2CID 72874.
Samir H, Ghaffar HA, Nasr M (March 2011). "Seizures and intellectual outcome: clinico-radiological study of 30 Egyptian cases of tuberous sclerosis complex". European Journal of Paediatric Neurology. 15 (2): 131–37. doi:10.1016/j.ejpn.2010.07.010. PMID 20817577.
Shepherd CW, Gomez MR, Lie JT, Crowson CS (August 1991). "Causes of death in patients with tuberous sclerosis". Mayo Clinic Proceedings. 66 (8): 792–96. doi:10.1016/s0025-6196(12)61196-3. PMID 1861550.
Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA (November 2006). "Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors". Kidney International. 70 (10): 1777–82. doi:10.1038/sj.ki.5001853. PMID 17003820.
Amin, S; Kingswood, J C; Bolton, P F; Elmslie, F; Gale, D P; Harland, C; Johnson, S R; Parker, A; Sampson, J R; Smeaton, M; Wright, I; O’Callaghan, F J (2019). "The UK guidelines for management and surveillance of Tuberous Sclerosis Complex". QJM: An International Journal of Medicine. 112 (3): 171–182. doi:10.1093/qjmed/hcy215. ISSN 1460-2725. PMID 30247655.

fda.gov

"Press Announcements - FDA approves Afinitor for non-cancerous kidney tumors caused by rare genetic disease". www.fda.gov. Archived from the original on 28 April 2012. Retrieved 8 February 2017.

globenewswire.com

Novartis International AG. "Novartis drug Votubia® receives EU approval to treat refractory partial-onset seizures in patients with TSC". GlobeNewswire News Room. Retrieved 8 February 2017.

harvard.edu

ui.adsabs.harvard.edu

Pal R, Xiong Y, Sardiello M (February 2019). "Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways". Proc Natl Acad Sci U S A. 116 (8): 2977–2986. Bibcode:2019PNAS..116.2977P. doi:10.1073/pnas.1812943116. PMC 6386676. PMID 30728291.

jurology.com

Lendvay, Thomas S.; Marshall, Fray F. (May 2003). "The Tuberous Sclerosis Complex and its Highly Variable Manifestations". Journal of Urology. 169 (5): 1635–1642. doi:10.1097/01.ju.0000058253.40352.60. ISSN 0022-5347. PMID 12686801.

nih.gov

pubmed.ncbi.nlm.nih.gov

Islam, Monica P.; Roach, E. Steve (2015). "Tuberous sclerosis complex". Neurocutaneous Syndromes. Handbook of Clinical Neurology. Vol. 132. pp. 97–109. doi:10.1016/B978-0-444-62702-5.00006-8. ISBN 9780444627025. PMID 26564073.
O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN (May 1998). "Prevalence of tuberous sclerosis estimated by capture-recapture analysis". Lancet. 351 (9114): 1490. doi:10.1016/S0140-6736(05)78872-3. PMID 9605811. S2CID 9262685.
Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M (October 2005). "Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations". Human Mutation. 26 (4): 374–83. doi:10.1002/humu.20227. PMID 16114042. S2CID 10571695.
Brigo F, Lattanzi S, Trinka E, Nardone R, Bragazzi NL, Ruggieri M, et al. (December 2018). "First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840-1909)". Neuropathology. 38 (6): 577–582. doi:10.1111/neup.12515. PMID 30215888. S2CID 52269610.
Ridler K, Suckling J, Higgins N, Bolton P, Bullmore E (September 2004). "Standardized whole brain mapping of tubers and subependymal nodules in tuberous sclerosis complex". Journal of Child Neurology. 19 (9): 658–65. doi:10.1177/08830738040190090501. PMID 15563011. S2CID 23176067.
de Vries PJ, Wilde L, de Vries MC, Moavero R, Pearson DA, Curatolo P (September 2018). "A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178 (3): 309–320. doi:10.1002/ajmg.c.31637. PMC 6209538. PMID 30117265.
Lendvay, Thomas S.; Marshall, Fray F. (May 2003). "The Tuberous Sclerosis Complex and its Highly Variable Manifestations". Journal of Urology. 169 (5): 1635–1642. doi:10.1097/01.ju.0000058253.40352.60. ISSN 0022-5347. PMID 12686801.
Henske EP (December 2003). "Metastasis of benign tumor cells in tuberous sclerosis complex". Genes, Chromosomes & Cancer. 38 (4): 376–81. doi:10.1002/gcc.10252. PMID 14566858. S2CID 22211249.
Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (November 2014). "Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group". Journal of the American Heart Association. 3 (6): e001493. doi:10.1161/JAHA.114.001493. PMC 4338742. PMID 25424575.
Northrup H, Krueger DA (October 2013). "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference". Pediatric Neurology. 49 (4): 243–54. doi:10.1016/j.pediatrneurol.2013.08.001. PMC 4080684. PMID 24053982.
Northrup H, Koenig MK, Pearson DA, Au KS (1993). "Tuberous Sclerosis Complex". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. Seattle (WA): University of Washington. PMID 20301399.
Randle SC (April 2017). "Tuberous Sclerosis Complex: A Review". Pediatric Annals. 46 (4): e166 – e171. doi:10.3928/19382359-20170320-01. PMID 28414398.
Arva NC, Pappas JG, Bhatla T, Raetz EA, Macari M, Ginsburg HB, Hajdu CH (January 2012). "Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature". The American Journal of Surgical Pathology. 36 (1): 149–53. doi:10.1097/PAS.0b013e31823d0560. PMID 22173120.
Baraitser M, Patton MA (February 1985). "Reduced penetrance in tuberous sclerosis". Journal of Medical Genetics. 22 (1): 29–31. doi:10.1136/jmg.22.1.29. PMC 1049373. PMID 3981577.
Young J, Povey S (July 1998). "The genetic basis of tuberous sclerosis". Molecular Medicine Today. 4 (7): 313–9. doi:10.1016/S1357-4310(98)01245-3. PMID 9743993.
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, et al. (August 1997). "Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34". Science. 277 (5327): 805–808. doi:10.1126/science.277.5327.805. PMID 9242607.
European Chromosome 16 Tuberous Sclerosis Consortium (31 December 1993). "Identification and characterization of the tuberous sclerosis gene on chromosome 16". Cell. 75 (7): 1305–15. doi:10.1016/0092-8674(93)90618-Z. PMID 8269512. S2CID 29476292.
Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR (December 1994). "Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome". Nature Genetics. 8 (4): 328–32. doi:10.1038/ng1294-328. PMID 7894481. S2CID 23793670.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ (January 2001). "Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs". American Journal of Human Genetics. 68 (1): 64–80. doi:10.1086/316951. PMC 1234935. PMID 11112665.
Pal R, Xiong Y, Sardiello M (February 2019). "Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways". Proc Natl Acad Sci U S A. 116 (8): 2977–2986. Bibcode:2019PNAS..116.2977P. doi:10.1073/pnas.1812943116. PMC 6386676. PMID 30728291.
Crino PB, Nathanson KL, Henske EP (September 2006). "The tuberous sclerosis complex". The New England Journal of Medicine. 355 (13): 1345–56. CiteSeerX 10.1.1.319.8438. doi:10.1056/NEJMra055323. PMID 17005952.
Krueger DA, Northrup H (October 2013). "Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference". Pediatric Neurology. 49 (4): 255–65. doi:10.1016/j.pediatrneurol.2013.08.002. PMC 4058297. PMID 24053983.
Sasongko TH, Kademane K, Chai Soon Hou S, Jocelyn TX, Zabidi-Hussin Z (July 2023). "Rapamycin and rapalogs for tuberous sclerosis complex". The Cochrane Database of Systematic Reviews. 2023 (7): CD011272. doi:10.1002/14651858.CD011272.pub3. PMC 10334695. PMID 37432030.
French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, et al. (October 2016). "Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study". Lancet. 388 (10056): 2153–2163. doi:10.1016/s0140-6736(16)31419-2. PMID 27613521.
Capal JK, Franz DN (2016). "Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy". Neuropsychiatric Disease and Treatment. 12: 2165–2172. doi:10.2147/NDT.S91248. PMC 5003595. PMID 27601910.
Asano E, Juhász C, Shah A, Muzik O, Chugani DC, Shah J, Sood S, Chugani HT (July 2005). "Origin and propagation of epileptic spasms delineated on electrocorticography". Epilepsia. 46 (7): 1086–97. doi:10.1111/j.1528-1167.2005.05205.x. PMC 1360692. PMID 16026561.
Chugani HT, Luat AF, Kumar A, Govindan R, Pawlik K, Asano E (August 2013). "α-[11C]-Methyl-L-tryptophan--PET in 191 patients with tuberous sclerosis complex". Neurology. 81 (7): 674–80. doi:10.1212/WNL.0b013e3182a08f3f. PMC 3775695. PMID 23851963.
Hong AM, Turner Z, Hamdy RF, Kossoff EH (August 2010). "Infantile spasms treated with the ketogenic diet: prospective single-center experience in 104 consecutive infants". Epilepsia. 51 (8): 1403–407. doi:10.1111/j.1528-1167.2010.02586.x. PMID 20477843. S2CID 26666421.
Jacks SK, Witman PM (September–October 2015). "Tuberous Sclerosis Complex: An Update for Dermatologists". Pediatric Dermatology. 32 (5): 563–70. doi:10.1111/pde.12567. PMID 25776100. S2CID 72874.
Samir H, Ghaffar HA, Nasr M (March 2011). "Seizures and intellectual outcome: clinico-radiological study of 30 Egyptian cases of tuberous sclerosis complex". European Journal of Paediatric Neurology. 15 (2): 131–37. doi:10.1016/j.ejpn.2010.07.010. PMID 20817577.
Shepherd CW, Gomez MR, Lie JT, Crowson CS (August 1991). "Causes of death in patients with tuberous sclerosis". Mayo Clinic Proceedings. 66 (8): 792–96. doi:10.1016/s0025-6196(12)61196-3. PMID 1861550.
Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA (November 2006). "Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors". Kidney International. 70 (10): 1777–82. doi:10.1038/sj.ki.5001853. PMID 17003820.
Amin, S; Kingswood, J C; Bolton, P F; Elmslie, F; Gale, D P; Harland, C; Johnson, S R; Parker, A; Sampson, J R; Smeaton, M; Wright, I; O’Callaghan, F J (2019). "The UK guidelines for management and surveillance of Tuberous Sclerosis Complex". QJM: An International Journal of Medicine. 112 (3): 171–182. doi:10.1093/qjmed/hcy215. ISSN 1460-2725. PMID 30247655.

ncbi.nlm.nih.gov

de Vries PJ, Wilde L, de Vries MC, Moavero R, Pearson DA, Curatolo P (September 2018). "A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178 (3): 309–320. doi:10.1002/ajmg.c.31637. PMC 6209538. PMID 30117265.
Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (November 2014). "Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group". Journal of the American Heart Association. 3 (6): e001493. doi:10.1161/JAHA.114.001493. PMC 4338742. PMID 25424575.
Northrup H, Krueger DA (October 2013). "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference". Pediatric Neurology. 49 (4): 243–54. doi:10.1016/j.pediatrneurol.2013.08.001. PMC 4080684. PMID 24053982.
Northrup H, Koenig MK, Pearson DA, Au KS (1993). "Tuberous Sclerosis Complex". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. Seattle (WA): University of Washington. PMID 20301399.
Baraitser M, Patton MA (February 1985). "Reduced penetrance in tuberous sclerosis". Journal of Medical Genetics. 22 (1): 29–31. doi:10.1136/jmg.22.1.29. PMC 1049373. PMID 3981577.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ (January 2001). "Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs". American Journal of Human Genetics. 68 (1): 64–80. doi:10.1086/316951. PMC 1234935. PMID 11112665.
Pal R, Xiong Y, Sardiello M (February 2019). "Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways". Proc Natl Acad Sci U S A. 116 (8): 2977–2986. Bibcode:2019PNAS..116.2977P. doi:10.1073/pnas.1812943116. PMC 6386676. PMID 30728291.
Krueger DA, Northrup H (October 2013). "Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference". Pediatric Neurology. 49 (4): 255–65. doi:10.1016/j.pediatrneurol.2013.08.002. PMC 4058297. PMID 24053983.
Sasongko TH, Kademane K, Chai Soon Hou S, Jocelyn TX, Zabidi-Hussin Z (July 2023). "Rapamycin and rapalogs for tuberous sclerosis complex". The Cochrane Database of Systematic Reviews. 2023 (7): CD011272. doi:10.1002/14651858.CD011272.pub3. PMC 10334695. PMID 37432030.
Capal JK, Franz DN (2016). "Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy". Neuropsychiatric Disease and Treatment. 12: 2165–2172. doi:10.2147/NDT.S91248. PMC 5003595. PMID 27601910.
Asano E, Juhász C, Shah A, Muzik O, Chugani DC, Shah J, Sood S, Chugani HT (July 2005). "Origin and propagation of epileptic spasms delineated on electrocorticography". Epilepsia. 46 (7): 1086–97. doi:10.1111/j.1528-1167.2005.05205.x. PMC 1360692. PMID 16026561.
Chugani HT, Luat AF, Kumar A, Govindan R, Pawlik K, Asano E (August 2013). "α-[11C]-Methyl-L-tryptophan--PET in 191 patients with tuberous sclerosis complex". Neurology. 81 (7): 674–80. doi:10.1212/WNL.0b013e3182a08f3f. PMC 3775695. PMID 23851963.

ninds.nih.gov

"Tuberous Sclerosis Fact Sheet". National Institute of Neurological Disorders and Stroke. 6 July 2018. Retrieved 16 December 2018.

oup.com

academic.oup.com

Amin, S; Kingswood, J C; Bolton, P F; Elmslie, F; Gale, D P; Harland, C; Johnson, S R; Parker, A; Sampson, J R; Smeaton, M; Wright, I; O’Callaghan, F J (2019). "The UK guidelines for management and surveillance of Tuberous Sclerosis Complex". QJM: An International Journal of Medicine. 112 (3): 171–182. doi:10.1093/qjmed/hcy215. ISSN 1460-2725. PMID 30247655.

psu.edu

citeseerx.ist.psu.edu

Crino PB, Nathanson KL, Henske EP (September 2006). "The tuberous sclerosis complex". The New England Journal of Medicine. 355 (13): 1345–56. CiteSeerX 10.1.1.319.8438. doi:10.1056/NEJMra055323. PMID 17005952.

semanticscholar.org

api.semanticscholar.org

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