St. Clair College - Windsor/South Campus

Fragile X syndrome


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Fragile X syndrome : from genetics to targeted treatment


xiv, 484 pages : color illustrations ; 25 cm.

Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology.

It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders.

"This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review "fragile X research from a parental perspective," which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research...This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials...In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients." - European Journal of Human Genetics (September 2018)



1 copy available at St. Clair College - Windsor/South Campus

Field Ind Subfield Data
001 001     3858709
005 005     20180723135156.0
020 ISBN   $a ISBN  978-0-12-804461-2
040 Cataloging Src   $a Original cataloging agency  BTCTA
    $b Language of cataloging  eng
    $e Description conventions  rda
    $c Transcribing agency  BTCTA
050 LC Call No $a Classification number  RJ506
    $b Item number  .F73 F734 2017
245 Title 00  $a Title  Fragile X syndrome :
    $b Remainder of title  from genetics to targeted treatment /
    $c Statement of responsibility  edited by Rob Willemsen, R. Frank Kooy.
260 PublicationInfo   $c Date of publication, dist, etc  2017.
264 ProductnNotice $a Place of prod/dist/manuf.  London :
    $b Name of prod./pub./dist./man.  Academic Press,
    $c Date of prod/dist/manuf/copyrt  [2017]
300 Physical Desc   $a Extent  xiv, 484 pages :
    $b Other physical details  color illustrations ;
    $c Dimensions  25 cm.
336 ContentType   $a Content type term  text
    $b Content type code  txt
    $2 Source  rdacontent
337 MediaType   $a Media type term  unmediated
    $b Media type code  n
    $2 Source  rdamedia
338 CarrierType   $a Carrier type term  volume
    $b Carrier type code  nc
    $2 Source  rdacarrier
504 BibliogrphyNote   $a Bibliography, etc. note  Includes bibliographical references and index.
505 505 0   $a 505  Part I. Clinics, diagnosis, epidemiology, molecular mechanisms, and models -- The clinical phenotype of the Fragile X syndrome and related disorders -- Fragile X syndrome genetics -- Molecular diagnostics and genetic counseling in Fragile X syndrome and FMR1-associated disorders -- Epidemiology of Fragile X syndrome -- Mechanisms of repeat instability in Fragile X syndrome -- Modeling Fragile X syndrome using human pluripotent stem cells -- Animal models of Fragile X syndrome -- Part II. Pathways involved -- RNA and protein targets of FMRP -- The mGluR theory of Fragile X: from mice to men -- The GABAergic system contributions to the Fragile X syndrome phenotype -- Intracellular signaling networks in Fragile X syndrome: approaches to drug discovery and therapeutics -- The endocannabinoid system in Fragile X syndrome -- Glycogen synthase kinase-3: abnormalities and therapeutic potential in Fragile X syndrome -- Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice -- Matrix metalloproteinases in Fragile X syndrome -- Ion channel dysfunction and FXS -- Reactivation of the FMR1 gene -- Part III. Clinical trials -- Drug discovery for targeted pharmacotherapy of Fragile X syndrome -- Overview of targeted double-blind, placebo-controlled clinical trials in Fragile X syndrome -- Reflections on clinical trials in Fragile X syndrome -- Outcome measures in clinical trials for Fragile X syndrome: the search for sensitive neurocognitive assays -- Fragile X research from a parental perspective.
650 Subj. $a Topical heading  Fragile X syndrome
    $x General subdivisoin  Genetic aspects.
650 Subj. $a Topical heading  Fragile X syndrome
    $x General subdivisoin  Treatment.
700 AE:PersName 1   $a Personal name  Willemsen, Rob,
    $e Relator  editor.
700 AE:PersName 1   $a Personal name  Kooy, Frank,
    $e Relator  editor.
852 Holdings   $a Location  221
    $h Classification part  RJ506.F73 F734 2017
    $p Barcode  219676
    $9 Cost  $160.00

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