PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. (Record no. 24741545)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02051 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517023306.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201508s 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/awv057 |
| 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 | Jobling, Rebekah K |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150807 |
| 245 00 - TITLE STATEMENT | |
| Title | PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | Jun 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1505-17 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 |
| 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 | Child |
| 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 | Lebanon |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lymphocytes |
| General subdivision | metabolism |
| 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 | Metalloendopeptidases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proteins |
| General subdivision | metabolism |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Subunits |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spinocerebellar Degenerations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Processing Peptidase |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Assoum, Mirna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gakh, Oleksandr |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blaser, Susan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raiman, Julian A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mignot, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roze, Emmanuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dürr, Alexandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brice, Alexis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lévy, Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prasad, Chitra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paton, Tara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paterson, Andrew D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roslin, Nicole M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marshall, Christian R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desvignes, Jean-Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roëckel-Trevisiol, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scherer, Stephen W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouleau, Guy A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mégarbané, André |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isaya, Grazia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delague, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yoon, Grace |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 138 |
| -- | no. Pt 6 |
| -- | p. 1505-17 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/awv057">https://doi.org/10.1093/brain/awv057</a> |
| Public note | Available from publisher's website |
No items available.