Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. (Record no. 23806383)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01491 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516212223.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201408s 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.0000000000000482 |
| 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 | Canafoglia, Laura |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140811 |
| 245 00 - TITLE STATEMENT | |
| Title | Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | Jun 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2003-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
| 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 | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diagnosis, Differential |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Genome-Wide Association Study |
| General subdivision | methods |
| 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 | Mucolipidoses |
| General subdivision | diagnosis |
| 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 | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuraminidase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robbiano, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pareyson, Davide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Panzica, Ferruccio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nanetti, Lorenzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giovagnoli, Anna Rita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Venerando, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gellera, Cinzia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Franceschetti, Silvana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zara, Federico |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 82 |
| -- | no. 22 |
| -- | p. 2003-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/WNL.0000000000000482">https://doi.org/10.1212/WNL.0000000000000482</a> |
| Public note | Available from publisher's website |
No items available.