Bibliography

Bibliography on Tuberous Sclerosis Complex

Scientific books

If you wish to deepen your knowledge on Tuberous Sclerosis, we recommend some scientific books which require however some understanding of medical terms. 

- Tuberous Sclerosis: Everything You Need to Know about the Disease Including Signs and Symptoms, Diagnosis, Management and More de Gaby Alez – Février 2012.

- Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics de David J. Kwiatkowski – 2010

- Tuberous Sclerosis – A bibliography and Dictionary for Physicians, Patients and Genome Researchers de Philip M. Parker – 2007

- Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes de Paolo Curatolo – 2003.

- The Official Patients’s Source book on Tuberous Sclerosis de Icon Health Publications – 2002.

Other articles and scientific publications

You can also have access to the lastest scientific articles on Tuberous Sclerosis on www.pubmed.com, the official site of the American National Library of Medicine. These articles, intended for practionners, researchers or healthcare professionals, may often be complex for the general public.

We propose a non-exhaustive list of scientific articles that guided us in the writing of the present website. They were issued in major scientific journals and their authors significantly contributed to the understanding of the disease and its treatments.

It is heartening to see the interest of the scientific community for TSC, as numerous publications have been recently issued gives hope for future therapeutic advances.

- Epidemiology of tuberous sclerosis. Osborne J.P., Fryer A., Webb D.: Annals of the New York Academy of Sciences, 1991

- Genetic conceling in autism and pervasive developmental disorders. Simonoff.: Journal of Austism and Developmental Disorders, 1998

- Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Niida Y., Lawrence-Smith N., Banwell A., Hammer E., Lewis J., Beauchamp R.L.: Human Mutation, 1999

- Des maladies pas comme les autres. L’annonce d’une maladie génétiquement transmissible. Munnich A.: In: Frydman R., Flis-Trèves M.: L’annonce faite à Marie, Sarah, Agar et les autres. Odile Jacob, 2000

- Therapeutic trial of Vigabatrin in refractory infantile spasms. Chiron C., Dulac O., Beaumont D., et coll.: Journal of Child Neurology, 1991

- L’histoire de la sclérose tubéreuse des circonvolutions cérébrales ou l’enfant trouvé de Bourneville. Bonduelle M.: In: Poirier J., Signoret J.L.: De Bourneville à la sclérose tubéreuse. Flammarion, 1991

- Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Krueger DA., Northrup H.; International Tuberous Sclerosis Complex Consensus Group. Pediatric Neurology, 2013

- Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Northrup H., Krueger DA.; International Tuberous Sclerosis Complex Consensus Group. Pediatric Neurology, 2013

- Is mTOR inhibition a systemic treatment for tuberous sclerosis? Moavero R., Coniglio A., Garaci F., Curatolo P., Italian Journal of Pediatry, 2013

- Everolimus in tuberous sclerosis patients with intractable epilepsy: A treatment option? Wiegand G., May TW., Ostertag P., Boor R., Stephani U., Franz DN., European Journal of Paediatric Neuroly, 2013

- Therapeutic trial of Vigabatrin in refractory infantile spasms. Chiron C., Dulac O., Beaumont D., Journal of Child Neurology, 1991

- Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients. Jambaqué I., Chiron C., Dumas C., Epilepsy Research, 2000

- Neuro-ectodermoses: Neurofibromatose. Ponsot G.: In: Arthuis M., Dulac O., Mancini J., Pinsard N., Ponsot G.: Neurologie pédiatrique. Flammarion, 1998

- Sun exposure causes somatic second hit mutations and angiofibroma development in Tuberous Sclerosis Complex. Tyburczy ME., Wang JA., Li S., Thangapazham R., Chekaluk Y., Moss J., Kwiatkowski DJ., Darling TN., Human Molecular Genetics, 2013

- Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. Jóźwiak S., Nabbout R., Curatolo P.; participants of the TSC Consensus Meeting for SEGA and Epilepsy Management. European Journal of Paediatric Neuroly, 2013

- Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Curatolo P., Jóźwiak S., Nabbout R.; TSC Consensus Meeting for SEGA and Epilepsy Management. European Journal of Paediatric Neuroly, 2012

- Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. Franz DN., Department of Pediatrics, Tuberous Sclerosis Clinic, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA. Biologics, 2013

- Role of mTOR inhibition in the treatment of patients with renal angiomyolipomas. Coombs EJ., Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio. Journal of the American Association Nurse Pract, 2013

- Tuberous sclerosis. Curatolo P., Bombardieri R., Jozwiak S., Lancet, 2008 Learning disability in tuberous sclerosis complex (TSC). Franz DN., Tuberous Sclerosis Association. Fact sheet 35, 2010.

- The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC). de Vries PJ., Hunt A., Bolton PF., European Child Adolesc Psychiatry, 2007

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