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The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
In The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecu...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor Corporativo: | |
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
New York, NY :
Springer New York : Imprint: Springer,
2010.
|
| Edición: | 1st ed. 2010. |
| Temas: | |
| Acceso en línea: | Texto Completo |
MARC
| LEADER | 00000nam a22000005i 4500 | ||
|---|---|---|---|
| 001 | 978-1-4419-5805-1 | ||
| 003 | DE-He213 | ||
| 005 | 20220113060748.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 100623s2010 xxu| s |||| 0|eng d | ||
| 020 | |a 9781441958051 |9 978-1-4419-5805-1 | ||
| 024 | 7 | |a 10.1007/978-1-4419-5805-1 |2 doi | |
| 050 | 4 | |a RB155-155.8 | |
| 072 | 7 | |a MFN |2 bicssc | |
| 072 | 7 | |a MED107000 |2 bisacsh | |
| 072 | 7 | |a MFN |2 thema | |
| 082 | 0 | 4 | |a 616.042 |2 23 |
| 245 | 1 | 4 | |a The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) |h [electronic resource] / |c edited by Flora Tassone, Elizabeth M. Berry-Kravis. |
| 250 | |a 1st ed. 2010. | ||
| 264 | 1 | |a New York, NY : |b Springer New York : |b Imprint: Springer, |c 2010. | |
| 300 | |a XVI, 188 p. |b online resource. | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 347 | |a text file |b PDF |2 rda | ||
| 505 | 0 | |a Clinical Neurological Phenotype of FXTAS -- The Epidemiology of FXTAS -- FXTAS: Neuropsychological/Neuropsychiatric Phenotypes -- Radiological Findings in FXTAS -- The Pathology of FXTAS -- The Molecular Biology of FXTAS -- Genotype/Phenotype Relationships in FXTAS -- Animal Models for FXTAS -- Treatment and Management of FXTAS -- Genetic Counseling for FXTAS and FMR1-Associated Disorders. | |
| 520 | |a In The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. | ||
| 650 | 0 | |a Medical genetics. | |
| 650 | 0 | |a Medicine-Research. | |
| 650 | 0 | |a Biology-Research. | |
| 650 | 0 | |a Neurosciences. | |
| 650 | 1 | 4 | |a Medical Genetics. |
| 650 | 2 | 4 | |a Biomedical Research. |
| 650 | 2 | 4 | |a Neuroscience. |
| 700 | 1 | |a Tassone, Flora. |e editor. |4 edt |4 http://id.loc.gov/vocabulary/relators/edt | |
| 700 | 1 | |a Berry-Kravis, Elizabeth M. |e editor. |4 edt |4 http://id.loc.gov/vocabulary/relators/edt | |
| 710 | 2 | |a SpringerLink (Online service) | |
| 773 | 0 | |t Springer Nature eBook | |
| 776 | 0 | 8 | |i Printed edition: |z 9781441958150 |
| 776 | 0 | 8 | |i Printed edition: |z 9781441958044 |
| 776 | 0 | 8 | |i Printed edition: |z 9781489982230 |
| 856 | 4 | 0 | |u https://doi.uam.elogim.com/10.1007/978-1-4419-5805-1 |z Texto Completo |
| 912 | |a ZDB-2-SBL | ||
| 912 | |a ZDB-2-SXB | ||
| 950 | |a Biomedical and Life Sciences (SpringerNature-11642) | ||
| 950 | |a Biomedical and Life Sciences (R0) (SpringerNature-43708) | ||