SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. (Record no. 23079587)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01585 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516170839.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201312s 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.0b013e3182a4a518 |
| 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 | Echaniz-Laguna, Andoni |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131211 |
| 245 00 - TITLE STATEMENT | |
| Title | SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | Oct 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1523-30 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: 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 | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Charcot-Marie-Tooth Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 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 | Homozygote |
| 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 | Membrane Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proteins |
| General subdivision | deficiency |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ghezzi, Daniele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chassagne, Maïté |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mayençon, Martine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Padet, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Melchionda, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouvet, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lannes, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bozon, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Latour, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeviani, Massimo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mousson de Camaret, Bénédicte |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 81 |
| -- | no. 17 |
| -- | p. 1523-30 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/WNL.0b013e3182a4a518">https://doi.org/10.1212/WNL.0b013e3182a4a518</a> |
| Public note | Available from publisher's website |
No items available.