SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. (Record no. 27997075)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02144 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517195014.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201906s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2156 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/brain/awx369 |
| 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 | Rebelo, Adriana P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190627 |
| 245 00 - TITLE STATEMENT | |
| Title | SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | 03 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 662-672 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adenosine Triphosphate |
| General subdivision | metabolism |
| 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Axons |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Charcot-Marie-Tooth Disease |
| General subdivision | complications |
| 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 | Copper |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electron Transport Complex IV |
| General subdivision | metabolism |
| 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 | Fibroblasts |
| General subdivision | metabolism |
| 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 | Magnetic Resonance Imaging |
| 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Inbred C57BL |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Transgenic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Chaperones |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oxygen Consumption |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sciatic Nerve |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saade, Dimah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pereira, Claudia V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Farooq, Amjad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huff, Tyler C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abreu, Lisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moraes, Carlos T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mnatsakanova, Diana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathews, Kathy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Hua |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schon, Eric A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zuchner, Stephan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shy, Michael E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 141 |
| -- | no. 3 |
| -- | p. 662-672 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/awx369">https://doi.org/10.1093/brain/awx369</a> |
| Public note | Available from publisher's website |
No items available.