Progressive Myoclonus Epilepsies (notice n° 15167)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01826cam a2200301zu 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | FRCYB88842079 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250107104530.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 250107s2017 fr | o|||||0|0|||eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9782742014880 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | FRCYB88842079 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | FR-PaCSA |
| Language of cataloging | en |
| Transcribing agency | |
| Description conventions | rda |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Avanzini, Giuliano |
| 245 01 - TITLE STATEMENT | |
| Title | Progressive Myoclonus Epilepsies |
| Remainder of title | State of the Art |
| Statement of responsibility, etc. | ['Avanzini, Giuliano', 'Striano, Pascale', 'Minassian, Berge A.'] |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Name of producer, publisher, distributor, manufacturer | John Libbey Eurotext |
| Date of production, publication, distribution, manufacture, or copyright notice | 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | p. |
| 336 ## - CONTENT TYPE | |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type code | c |
| Source | rdamdedia |
| 338 ## - CARRIER TYPE | |
| Carrier type code | c |
| Source | rdacarrier |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Progressive myoclonus epilepsy strikes healthy children and has a slow yet devastating impact upon their lives. Almost all forms are caused by single gene defects, the majority of which were identified during the genomic era. Accurate clinical diagnosis is now straightforward and research into pathogenesis builds upon our understanding of causation. Future research is likely to lead to new therapeutic approaches while providing us with a better understanding of how the brain, the very essence of our being, operates, gene by gene. As we stand on the cusp of the post-genomic era, the emergence of unprecedented new tools, such as CRISPR and adeno-associated viruses, offers hope that these monogenetic diseases may one day be eliminated altogether. This book outlines the genetic, pathogenetic, pathological, and clinical aspects of progressive myoclonus epilepsies within the context of the post-genomic era. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Avanzini, Giuliano |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Pascale |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Minassian, Berge A. |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Access method | Cyberlibris |
| Uniform Resource Identifier | <a href="https://international.scholarvox.com/netsen/book/88842079">https://international.scholarvox.com/netsen/book/88842079</a> |
| Electronic format type | text/html |
| Host name | |
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