Tuberous Sclerosis Complex
Home > Medicine & Health Science textbooks > Medical specialties, branches of medicine > Neurology and clinical neurophysiology > Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics
Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics


     0     
5
4
3
2
1



Out of Stock


Notify me when this book is in stock
X
About the Book

The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone. Special focus is placed on novel insights into the signal transduction pathways affected by the disease as well as genotype phenotype correlations, while existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease as well as the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US.

Table of Contents:
BASICS The History of Tuberous Sclerosis Complex (Whittemore) Natural History of Tuberous Sclerosis Complex and Overview of Manifestations (Thiele and Jozwiak) Diagnostic Criteria for Tuberous Sclerosis Complex (Roach and Sparagana) GENETICS Genetics of Tuberous Sclerosis Complex (Kwiatkowski) Genotype-Phenotype Studies in TSC and Molecular Diagnostics (Au and Northrup) BASIC SCIENCE The Role of Target of Rapamycin Signaling in Tuberous Sclerosis Complex (Manning) Rat and Mouse Models of tuberous Sclerosis (Kwiatkowski) Animal Models of TSC: Insights from Drosophila (Pan) BRAIN INVOLVEMENT Pathogenesis of TSC in the Brain (Crino and Vinters) Epilepsy in TSC (Thiele and Weiner) Subependymal Giant Cell Astrocytomas (Franz, Krueger, Balko) Neurodevelopmental, psychiatric and cognitive aspects of Tuberous Sclerosis Complex (de Vries) OTHER ORGAN SYSTEMS Ophthalmic Manifestations (Agrawal and Fulton) Dermatologic Manifestations of TSC (Darling, Moss and Mausner) Renal Manifestations of Tuberous Sclerosis Complex (Bissler and Henske) Cardiac and Vascular Manifestations (Jozwiak and Respondek-Liberska) Lymphangioleiomyomatosis and pulmonary disease in TSC (McCormack and Henske) Endocrine, Gastrointestinal, Hepatic and Lymphatic Manifestations of Tuberous Sclerosis Complex (O?Callaghan and Osborne) FAMILY IMPACT Impact on the Family and Genetic Counseling Issues (Whittemore and Lewis) BASICS The History of Tuberous Sclerosis Complex (Whittemore) Natural History of Tuberous Sclerosis Complex and Overview of Manifestations (Thiele and Jozwiak) Diagnostic Criteria for Tuberous Sclerosis Complex (Roach and Sparagana) GENETICS Genetics of Tuberous Sclerosis Complex (Kwiatkowski) Genotype-Phenotype Studies in TSC and Molecular Diagnostics (Au and Northrup) BASIC SCIENCE The Role of Target of Rapamycin Signaling in Tuberous Sclerosis Complex (Manning) Rat and Mouse Models of tuberous Sclerosis (Kwiatkowski) Animal Models of TSC: Insights from Drosophila (Pan) BRAIN INVOLVEMENT Pathogenesis of TSC in the Brain (Crino and Vinters) Epilepsy in TSC (Thiele and Weiner) Subependymal Giant Cell Astrocytomas (Franz, Krueger, Balko) Neurodevelopmental, psychiatric and cognitive aspects of Tuberous Sclerosis Complex (de Vries) OTHER ORGAN SYSTEMS Ophthalmic Manifestations (Agrawal and Fulton) Dermatologic Manifestations of TSC (Darling, Moss and Mausner) Renal Manifestations of Tuberous Sclerosis Complex (Bissler and Henske) Cardiac and Vascular Manifestations (Jozwiak and Respondek-Liberska) Lymphangioleiomyomatosis and pulmonary disease in TSC (McCormack and Henske) Endocrine, Gastrointestinal, Hepatic and Lymphatic Manifestations of Tuberous Sclerosis Complex (O?Callaghan and Osborne) FAMILY IMPACT Impact on the Family and Genetic Counseling Issues (Whittemore and Lewis)

About the Author :
Dr. David Kwiatkowski is Professor of Medicine at Harvard Medical School, and Senior Physician at the Brigham and Women's Hospital and Dana Farber Cancer Institute. He is the recipient of the Gomez Award for research contributions in tuberous sclerosis (TSC), and has authored over 180 original publications, of which nearly half are on various aspects of TSC. His current research interests include understanding the pathogenesis and genetics of TSC, development of mouse models of the disease, and exploration of potential therapies in preclinical models. Dr. Vicky Holets Whittemore is the Vice President & Director of Science for the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US. She received her PhD from the University of Minnesota; post-doctoral training at the Karolinska Institute in neurobiology, and left academics when she was Associate Professor of Neurological Surgery at the University of Miami, Fla to run the National Tuberous Sclerosis Association in 1994. She is the mother of a child with TSC, and is highly knowledgeable about the disease, and a tireless advocate for TSC patients and families. Dr. Elizabeth A. Thiele is a neurologist and epileptologist at Massachusetts General Hospital. She received her medical education at Johns Hopkins University School of Medicine, and post-graduate training at the Johns Hopkins Hospital and Children's Hospital in Boston. She established and directs the Herscot Center for Tuberous Sclerosis Complex, and is Director of the Pediatric Epilepsy Service at Massachusetts General Hospital. She is an Associate Professor in Neurology at Harvard Medical School. Dr. Thiele's research and clinical interests focus on multiple aspects of the clinical management of tuberous sclerosis, including epilepsy management, genotype-phenotype correlation in TSC, and neuropsychological aspects of TSC.

Review :
"This is an amazing collection of all the latest information on this not uncommon neurocutaneous disorders ... All in all this is an amazing collection of current information on Tuberous Sclerosis and is relatively well priced for such an expensively illustrated text. It makes an excellent source for recent information and is of interest to most people in the world of Pediatric Neurology." (Canadian Journal of Neurological Sciences, 1 January 2012)


Best Sellers


Product Details
  • ISBN-13: 9783527644674
  • Publisher: John Wiley and Sons Ltd
  • Publisher Imprint: Wiley-VCH Verlag GmbH
  • Language: English
  • Sub Title: Genes, Clinical Features and Therapeutics
  • ISBN-10: 3527644679
  • Publisher Date: 24 Aug 2011
  • Binding: Digital (delivered electronically)
  • No of Pages: 432


Similar Products

Add Photo
Add Photo

Customer Reviews

REVIEWS      0     
Click Here To Be The First to Review this Product
Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics
John Wiley and Sons Ltd -
Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics
Writing guidlines
We want to publish your review, so please:
  • keep your review on the product. Review's that defame author's character will be rejected.
  • Keep your review focused on the product.
  • Avoid writing about customer service. contact us instead if you have issue requiring immediate attention.
  • Refrain from mentioning competitors or the specific price you paid for the product.
  • Do not include any personally identifiable information, such as full names.

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

Required fields are marked with *

Review Title*
Review
    Add Photo Add up to 6 photos
    Would you recommend this product to a friend?
    Tag this Book Read more
    Does your review contain spoilers?
    What type of reader best describes you?
    I agree to the terms & conditions
    You may receive emails regarding this submission. Any emails will include the ability to opt-out of future communications.

    CUSTOMER RATINGS AND REVIEWS AND QUESTIONS AND ANSWERS TERMS OF USE

    These Terms of Use govern your conduct associated with the Customer Ratings and Reviews and/or Questions and Answers service offered by Bookswagon (the "CRR Service").


    By submitting any content to Bookswagon, you guarantee that:
    • You are the sole author and owner of the intellectual property rights in the content;
    • All "moral rights" that you may have in such content have been voluntarily waived by you;
    • All content that you post is accurate;
    • You are at least 13 years old;
    • Use of the content you supply does not violate these Terms of Use and will not cause injury to any person or entity.
    You further agree that you may not submit any content:
    • That is known by you to be false, inaccurate or misleading;
    • That infringes any third party's copyright, patent, trademark, trade secret or other proprietary rights or rights of publicity or privacy;
    • That violates any law, statute, ordinance or regulation (including, but not limited to, those governing, consumer protection, unfair competition, anti-discrimination or false advertising);
    • That is, or may reasonably be considered to be, defamatory, libelous, hateful, racially or religiously biased or offensive, unlawfully threatening or unlawfully harassing to any individual, partnership or corporation;
    • For which you were compensated or granted any consideration by any unapproved third party;
    • That includes any information that references other websites, addresses, email addresses, contact information or phone numbers;
    • That contains any computer viruses, worms or other potentially damaging computer programs or files.
    You agree to indemnify and hold Bookswagon (and its officers, directors, agents, subsidiaries, joint ventures, employees and third-party service providers, including but not limited to Bazaarvoice, Inc.), harmless from all claims, demands, and damages (actual and consequential) of every kind and nature, known and unknown including reasonable attorneys' fees, arising out of a breach of your representations and warranties set forth above, or your violation of any law or the rights of a third party.


    For any content that you submit, you grant Bookswagon a perpetual, irrevocable, royalty-free, transferable right and license to use, copy, modify, delete in its entirety, adapt, publish, translate, create derivative works from and/or sell, transfer, and/or distribute such content and/or incorporate such content into any form, medium or technology throughout the world without compensation to you. Additionally,  Bookswagon may transfer or share any personal information that you submit with its third-party service providers, including but not limited to Bazaarvoice, Inc. in accordance with  Privacy Policy


    All content that you submit may be used at Bookswagon's sole discretion. Bookswagon reserves the right to change, condense, withhold publication, remove or delete any content on Bookswagon's website that Bookswagon deems, in its sole discretion, to violate the content guidelines or any other provision of these Terms of Use.  Bookswagon does not guarantee that you will have any recourse through Bookswagon to edit or delete any content you have submitted. Ratings and written comments are generally posted within two to four business days. However, Bookswagon reserves the right to remove or to refuse to post any submission to the extent authorized by law. You acknowledge that you, not Bookswagon, are responsible for the contents of your submission. None of the content that you submit shall be subject to any obligation of confidence on the part of Bookswagon, its agents, subsidiaries, affiliates, partners or third party service providers (including but not limited to Bazaarvoice, Inc.)and their respective directors, officers and employees.

    Accept

    New Arrivals


    Inspired by your browsing history


    Your review has been submitted!

    You've already reviewed this product!