Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. (Record no. 23481164)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02288 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516193019.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201405s 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/awt357 |
| 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 | Kornak, Uwe |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140526 |
| 245 00 - TITLE STATEMENT | |
| Title | Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | Mar 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 683-92 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; 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 | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Diseases |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cough |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endoplasmic Reticulum |
| General subdivision | genetics |
| 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 | Fractures, Bone |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | GTP Phosphohydrolases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gastroesophageal Reflux |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Dominant |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hereditary Sensory and Autonomic Neuropathies |
| General subdivision | complications |
| 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 | Intracellular Space |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 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 | 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 | Mademan, Inès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schinke, Marte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Voigt, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krawitz, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hecht, Jochen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barvencik, Florian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schinke, Thorsten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gießelmann, Sebastian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beil, F Timo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pou-Serradell, Adolf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vílchez, Juan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beetz, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deconinck, Tine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Timmerman, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaether, Christoph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hübner, Christian A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gal, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amling, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mundlos, Stefan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baets, Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kurth, Ingo |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 137 |
| -- | no. Pt 3 |
| -- | p. 683-92 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/awt357">https://doi.org/10.1093/brain/awt357</a> |
| Public note | Available from publisher's website |
No items available.