KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. (Record no. 26271002)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01648 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517110112.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201706s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1531-8249 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ana.24744 |
| 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 | Duis, Jessica |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170605 |
| 245 00 - TITLE STATEMENT | |
| Title | KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Annals of neurology |
| Date of publication, distribution, etc. | Oct 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 633-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Apnea |
| General subdivision | genetics |
| 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 | Deglutition Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fatal Outcome |
| 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 | Frameshift Mutation |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kinesins |
| General subdivision | genetics |
| 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 | Mitochondrial Diseases |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle Hypotonia |
| 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 | Myoclonus |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Nerve |
| General subdivision | abnormalities |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dean, Shannon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Applegate, Carolyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harper, Amy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xiao, Rui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | He, Weimin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollar, James D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Lisa R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waberski, Marta Biderman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crawford, Thomas O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamosh, Ada |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stafstrom, Carl E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Annals of neurology |
| Related parts | vol. 80 |
| -- | no. 4 |
| -- | p. 633-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ana.24744">https://doi.org/10.1002/ana.24744</a> |
| Public note | Available from publisher's website |
No items available.