A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. (Record no. 27491545)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01334 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517171340.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201807s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1529-8027 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/jns.12235 |
| 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 | Tomaselli, Pedro J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180720 |
| 245 00 - TITLE STATEMENT | |
| Title | A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of the peripheral nervous system : JPNS |
| Date of publication, distribution, etc. | 12 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 460-463 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Autism Spectrum Disorder |
| General subdivision | genetics |
| 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 | 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Paraplegia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peripheral Nervous System Diseases |
| General subdivision | genetics |
| 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 | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossor, Alexander M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Horga, Alejandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laura, Matilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blake, Julian C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houlden, Henry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reilly, Mary M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of the peripheral nervous system : JPNS |
| Related parts | vol. 22 |
| -- | no. 4 |
| -- | p. 460-463 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/jns.12235">https://doi.org/10.1111/jns.12235</a> |
| Public note | Available from publisher's website |
No items available.