'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (Record no. 22542746)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02065 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516135741.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201305s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2156 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/brain/awt021 |
| 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 | Boissé Lomax, Lysa |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130530 |
| 245 00 - TITLE STATEMENT | |
| Title | 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | Apr 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1146-54 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Ataxia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electroencephalography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Europe |
| 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 | Humans |
| 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 | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myoclonic Epilepsies, Progressive |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | North Sea |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Qb-SNARE Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bayly, Marta A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hjalgrim, Helle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vlaar, Annemarie M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aaberg, Kari M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marquardt, Iris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gandolfo, Luke C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Michèl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kamsteeg, Erik-Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Sullivan, John D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Korenke, G Christoph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bloem, Bastiaan R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Coo, Irenaeus F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verhagen, Judith M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Said, Ines |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prescott, Trine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stray-Pedersen, Asbjørg |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rasmussen, Magnhild |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vears, Danya F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehesjoki, Anna-Elina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corbett, Mark A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bahlo, Melanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gecz, Jozef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dibbens, Leanne M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berkovic, Samuel F |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 136 |
| -- | no. Pt 4 |
| -- | p. 1146-54 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/awt021">https://doi.org/10.1093/brain/awt021</a> |
| Public note | Available from publisher's website |
No items available.