A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. (Record no. 18598476)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01765 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515154404.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200902s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-330X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jnnp.2008.147330 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Brussino, A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090217 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neurology, neurosurgery, and psychiatry |
| Date of publication, distribution, etc. | Feb 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 237-40 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellum |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Duplicate |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lamin Type B |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Leukoencephalopathy, Progressive Multifocal |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyramidal Tracts |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reverse Transcriptase Polymerase Chain Reaction |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vaula, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cagnoli, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mauro, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pradotto, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daniele, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Gregorio, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barberis, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arduino, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Squadrone, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abete, M C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Migone, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calabrese, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brusco, A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neurology, neurosurgery, and psychiatry |
| Related parts | vol. 80 |
| -- | no. 2 |
| -- | p. 237-40 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jnnp.2008.147330">https://doi.org/10.1136/jnnp.2008.147330</a> |
| Public note | Available from publisher's website |
No items available.