Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. (Record no. 30740822)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01341 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518091821.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202202s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2240-2993 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s13760-020-01328-z |
| 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 | Ceylan, Ahmet Cevdet |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20220222 |
| 245 00 - TITLE STATEMENT | |
| Title | Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Acta neurologica Belgica |
| Date of publication, distribution, etc. | Dec 2021 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1457-1462 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Review |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| General subdivision | genetics |
| 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 | Gene Duplication |
| General subdivision | genetics |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Glutamate |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spinocerebellar Degenerations |
| General subdivision | diagnostic imaging |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Acar Arslan, Elif |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Erdem, Haktan Bağış |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kavus, Haluk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arslan, Mutluay |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Topaloğlu, Haluk |
| 773 0# - HOST ITEM ENTRY | |
| Title | Acta neurologica Belgica |
| Related parts | vol. 121 |
| -- | no. 6 |
| -- | p. 1457-1462 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s13760-020-01328-z">https://doi.org/10.1007/s13760-020-01328-z</a> |
| Public note | Available from publisher's website |
No items available.