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Human Nucleotide Expansion Disorders
Human neurological and neuromuscular disorders caused by nucleotide expansion, first discovered in 1991, are the focus of growing interest of practicing physicians and of interested biomedical researchers. This volume represents a comprehensive and up-to-date description of many of the better-studie...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor Corporativo: | |
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2006.
|
| Edición: | 1st ed. 2006. |
| Colección: | Nucleic Acids and Molecular Biology,
19 |
| Temas: | |
| Acceso en línea: | Texto Completo |
MARC
| LEADER | 00000nam a22000005i 4500 | ||
|---|---|---|---|
| 001 | 978-3-540-33336-4 | ||
| 003 | DE-He213 | ||
| 005 | 20220116165814.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 100301s2006 gw | s |||| 0|eng d | ||
| 020 | |a 9783540333364 |9 978-3-540-33336-4 | ||
| 024 | 7 | |a 10.1007/3-540-33336-3 |2 doi | |
| 050 | 4 | |a RC321-580 | |
| 072 | 7 | |a PSAN |2 bicssc | |
| 072 | 7 | |a SCI070000 |2 bisacsh | |
| 072 | 7 | |a PSAN |2 thema | |
| 082 | 0 | 4 | |a 612.8 |2 23 |
| 245 | 1 | 0 | |a Human Nucleotide Expansion Disorders |h [electronic resource] / |c edited by Michael Fry, Karen Usdin. |
| 250 | |a 1st ed. 2006. | ||
| 264 | 1 | |a Berlin, Heidelberg : |b Springer Berlin Heidelberg : |b Imprint: Springer, |c 2006. | |
| 300 | |a XVIII, 294 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 | ||
| 490 | 1 | |a Nucleic Acids and Molecular Biology, |x 1869-2486 ; |v 19 | |
| 505 | 0 | |a Molecular Bases of Nucleotide Expansions -- Mechanisms of DNA Repeat Expansion -- Disorders Associated with Non-coding Repeats -- Molecular Correlates of Fragile X Syndrome and FXTAS -- The Neglected Fragile X Mutations: FRAXE and FRAXF -- Friedreich Ataxia -- Dodecamer Repeat Expansion in Progressive Myoclonus Epilepsy 1 -- Myotonic Dystrophies Types 1 and 2 -- Spinocerebellar Ataxia Type 8 -- Recent Progress in Spinocerebellar Ataxia Type 10 -- Disorders Associated with Coding Repeats -- Polyglutamine Diseases -- The Enigma of Spinocerebellar Ataxia Type 6 -- Disorders Associated with Repeats in an Undetermined Location -- Spinocerebellar Ataxia Type 12 and Huntington's Disease-Like 2: Clues to Pathogenesis -- Postscript -- Current Issues and Therapeutic Prospects. | |
| 520 | |a Human neurological and neuromuscular disorders caused by nucleotide expansion, first discovered in 1991, are the focus of growing interest of practicing physicians and of interested biomedical researchers. This volume represents a comprehensive and up-to-date description of many of the better-studied disorders. The expert authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms. Of special interest are ideas and initial results of the different therapeutic strategies that can be employed to overcome some of the disorders. As a summary of the state-of-the-art research in this field, this book is of value to human geneticists, molecular biologists and biochemists as well as to practicing neurologists and pediatricians. | ||
| 650 | 0 | |a Neurosciences. | |
| 650 | 0 | |a Medical genetics. | |
| 650 | 0 | |a Cytology. | |
| 650 | 0 | |a Biochemistry. | |
| 650 | 1 | 4 | |a Neuroscience. |
| 650 | 2 | 4 | |a Medical Genetics. |
| 650 | 2 | 4 | |a Cell Biology. |
| 650 | 2 | 4 | |a Biochemistry. |
| 700 | 1 | |a Fry, Michael. |e editor. |4 edt |4 http://id.loc.gov/vocabulary/relators/edt | |
| 700 | 1 | |a Usdin, Karen. |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 9783642069970 |
| 776 | 0 | 8 | |i Printed edition: |z 9783540822523 |
| 776 | 0 | 8 | |i Printed edition: |z 9783540333357 |
| 830 | 0 | |a Nucleic Acids and Molecular Biology, |x 1869-2486 ; |v 19 | |
| 856 | 4 | 0 | |u https://doi.uam.elogim.com/10.1007/3-540-33336-3 |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) | ||