Cargando…
Juvenile Huntington's disease : (and other trinucleotide repeat disorders) /
Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of Huntington's Disease usually occurs in adulthood, the age of onset of the condition is extremely variable with approximately 5-10% of cases having an onset of less than 20 years, or Juvenile...
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Oxford ; New York :
Oxford University Press,
2009.
|
| Temas: | |
| Acceso en línea: | Texto completo |
MARC
| LEADER | 00000cam a2200000 a 4500 | ||
|---|---|---|---|
| 001 | EBSCO_ocn801405440 | ||
| 003 | OCoLC | ||
| 005 | 20231017213018.0 | ||
| 006 | m o d | ||
| 007 | cr cnu---unuuu | ||
| 008 | 120723s2009 enka ob 001 0 eng d | ||
| 040 | |a N$T |b eng |e pn |c N$T |d E7B |d YDXCP |d OCLCQ |d OCLCF |d OCLCA |d NLGGC |d OCL |d EBLCP |d IDEBK |d OCLCQ |d D6H |d STBDS |d AGLDB |d OCLCQ |d OCLCO |d OCLCA |d STF |d OCLCO |d VNS |d VTS |d TOF |d REC |d OCLCQ |d OCLCO |d OCLCQ |d OCLCA |d OCLCQ |d OCLCA |d VLY |d AJS |d OCLCQ |d OCLCO |d OCL |d OCLCQ |d OCLCO | ||
| 019 | |a 801363821 |a 809313611 |a 817810671 |a 990734566 |a 1162528351 | ||
| 020 | |a 9780191575280 |q (electronic bk.) | ||
| 020 | |a 0191575283 |q (electronic bk.) | ||
| 020 | |a 1283582198 | ||
| 020 | |a 9781283582193 | ||
| 020 | |a 0191753211 | ||
| 020 | |a 9780191753213 | ||
| 020 | |a 9786613894649 | ||
| 020 | |a 6613894648 | ||
| 020 | |z 9780199236121 | ||
| 020 | |z 0199236127 | ||
| 029 | 1 | |a AU@ |b 000051584484 | |
| 029 | 1 | |a AU@ |b 000062595451 | |
| 029 | 1 | |a DEBBG |b BV043169082 | |
| 029 | 1 | |a DEBSZ |b 421395850 | |
| 035 | |a (OCoLC)801405440 |z (OCoLC)801363821 |z (OCoLC)809313611 |z (OCoLC)817810671 |z (OCoLC)990734566 |z (OCoLC)1162528351 | ||
| 050 | 4 | |a RC394.H85 |b J88 2009eb | |
| 060 | 4 | |a 2009 E-379 | |
| 060 | 4 | |a WL 390 |b J97 2009 | |
| 072 | 7 | |a HEA |x 046000 |2 bisacsh | |
| 072 | 7 | |a MED |x 069000 |2 bisacsh | |
| 082 | 0 | 4 | |a 618.920042 |2 22 |
| 049 | |a UAMI | ||
| 245 | 0 | 0 | |a Juvenile Huntington's disease : |b (and other trinucleotide repeat disorders) / |c edited by Oliver W.J. Quarrell [and others]. |
| 260 | |a Oxford ; |a New York : |b Oxford University Press, |c 2009. | ||
| 300 | |a 1 online resource (xvi, 205 pages) : |b illustrations | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 504 | |a Includes bibliographical references and index. | ||
| 588 | 0 | |a Print version record. | |
| 505 | 0 | |a Dedication; Preface; Foreword; Contents; List of contributors; 1 Family experiences: Part I, Diagnosis and early stages; 2 Family experiences: Part II, Later stages; 3 The history of juvenile Huntington's disease; 4 The clinical phenotype of juvenile Huntington's disease; 5 Juvenile Huntington's disease: neuropathology; 6 Molecular mechanisms in juvenile Huntington's disease; 7 Juvenile Huntington's disease and mouse models of Huntington's disease. | |
| 505 | 8 | |a 8 Clinical features of early and juvenile onset in polyglutamine disorders other than Huntington's disease: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy9 The diagnostic challenge; 10 The treatment of juvenile Huntington's disease; 11 Psychosocial issues surrounding juvenile Huntington's disease; 12 Challenges in assessment; Appendices: Proposed scales for juvenile Huntington's disease; 1 JHD total functional capacity; 2 JHD functional assessment; 3 JHD motor assessment; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W. | |
| 520 | |a Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of Huntington's Disease usually occurs in adulthood, the age of onset of the condition is extremely variable with approximately 5-10% of cases having an onset of less than 20 years, or Juvenile Huntington's Disease (JHD). While JHD shares many of the clinical features of adult HD (e.g., chorea and personality disorders), patients with JHD often experience additional problems includingseizures, dystonia and Parkinsonism. Diagnosis in patients with JHD is often delayed because of the failure of clini. | ||
| 546 | |a English. | ||
| 590 | |a eBooks on EBSCOhost |b EBSCO eBook Subscription Academic Collection - Worldwide | ||
| 650 | 0 | |a Huntington's disease. | |
| 650 | 0 | |a Genetic disorders in children. | |
| 650 | 0 | |a Trinucleotide repeats. | |
| 650 | 0 | |a Children. | |
| 650 | 2 | |a Adolescent | |
| 650 | 2 | |a Child | |
| 650 | 2 | |a Huntington Disease | |
| 650 | 2 | |a Trinucleotide Repeat Expansion | |
| 650 | 6 | |a Chorée de Huntington. | |
| 650 | 6 | |a Maladies génétiques chez l'enfant. | |
| 650 | 6 | |a Enfants. | |
| 650 | 7 | |a children (people by age group) |2 aat | |
| 650 | 7 | |a HEALTH & FITNESS |x Children's Health. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Pediatrics. |2 bisacsh | |
| 650 | 7 | |a Children |2 fast | |
| 650 | 7 | |a Genetic disorders in children |2 fast | |
| 650 | 7 | |a Huntington's disease |2 fast | |
| 650 | 7 | |a Trinucleotide repeats |2 fast | |
| 700 | 1 | |a Quarrell, Oliver. | |
| 776 | 0 | 8 | |i Print version: |t Juvenile Huntington's disease. |d Oxford ; New York : Oxford University Press, 2009 |z 9780199236121 |w (DLC) 2009280433 |w (OCoLC)260204659 |
| 856 | 4 | 0 | |u https://ebsco.uam.elogim.com/login.aspx?direct=true&scope=site&db=nlebk&AN=467477 |z Texto completo |
| 938 | |a ProQuest Ebook Central |b EBLB |n EBL7036126 | ||
| 938 | |a ProQuest Ebook Central |b EBLB |n EBL975643 | ||
| 938 | |a ebrary |b EBRY |n ebr10581400 | ||
| 938 | |a EBSCOhost |b EBSC |n 467477 | ||
| 938 | |a ProQuest MyiLibrary Digital eBook Collection |b IDEB |n 389464 | ||
| 938 | |a Oxford University Press USA |b OUPR |n EDZ0000109384 | ||
| 938 | |a YBP Library Services |b YANK |n 9316043 | ||
| 938 | |a YBP Library Services |b YANK |n 12890166 | ||
| 994 | |a 92 |b IZTAP | ||