Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. (Record no. 30584069)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01829 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518083126.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202105s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-0533 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00401-020-02128-8 |
| 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 | AlMuhaizea, Mohammed |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210517 |
| 245 00 - TITLE STATEMENT | |
| Title | Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Acta neuropathologica |
| Date of publication, distribution, etc. | 04 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 791-794 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 | Brain Diseases |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy |
| 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 | 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 | Microcephaly |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vesicular Transport Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | AlMass, Rawan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | AlHargan, Aljouhra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | AlBader, Anoud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Medico Salsench, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Howaidi, Jude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ihinger, Jacie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karachunski, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Begtrup, Amber |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Segura Castell, Monica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bauer, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertoli-Avella, Aida |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaya, Ibrahim H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | AlSufayan, Jumanah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | AlQuait, Laila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chedrawi, Aziza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arold, Stefan T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Colak, Dilek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barakat, Tahsin Stefan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaya, Namik |
| 773 0# - HOST ITEM ENTRY | |
| Title | Acta neuropathologica |
| Related parts | vol. 139 |
| -- | no. 4 |
| -- | p. 791-794 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00401-020-02128-8">https://doi.org/10.1007/s00401-020-02128-8</a> |
| Public note | Available from publisher's website |
No items available.