Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (Record no. 26006380)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03129 a2201057 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517094107.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1526-632X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1212/WNL.0000000000002740 |
| 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 | Lemke, Johannes R |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170508 |
| 245 00 - TITLE STATEMENT | |
| Title | Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | 06 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2171-8 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Movement Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nerve Tissue Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oocytes |
| 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 | Receptors, N-Methyl-D-Aspartate |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Xenopus laevis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geider, Kirsten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Katherine L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heyne, Henrike O |
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| Personal name | Møller, Rikke S |
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| Personal name | Hjalgrim, Helle |
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| Personal name | Lal, Dennis |
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| Personal name | Dlugos, Dennis J |
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| Personal name | Ruivenkamp, Claudia A |
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| Personal name | Belnap, Newell |
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| Personal name | Richholt, Ryan |
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| Personal name | Koeleman, Bobby P C |
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| Personal name | Sá, Joaquim |
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| Personal name | Mendonça, Carla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Kovel, Carolien G F |
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| Personal name | Weckhuysen, Sarah |
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| Personal name | Hardies, Katia |
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| Personal name | De Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Meirleir, Linda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Milh, Mathieu |
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| Personal name | Badens, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lebrun, Marine |
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| Personal name | Busa, Tiffany |
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| Personal name | Francannet, Christine |
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| Personal name | Piton, Amélie |
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| Personal name | Riesch, Erik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biskup, Saskia |
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| Personal name | Vogt, Heinrich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dorn, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Ingo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michaud, Jacques L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laube, Bodo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Syrbe, Steffen |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 86 |
| -- | no. 23 |
| -- | p. 2171-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/WNL.0000000000002740">https://doi.org/10.1212/WNL.0000000000002740</a> |
| Public note | Available from publisher's website |
No items available.