Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. (Record no. 26064072)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01593 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517095848.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201704s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1459 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00415-016-8167-3 |
| 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 | Renaud, Mathilde |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170411 |
| 245 00 - TITLE STATEMENT | |
| Title | Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neurology |
| Date of publication, distribution, etc. | Aug 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1552-8 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 | Brain |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellar Ataxia |
| General subdivision | genetics |
| 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 | Disability Evaluation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disease Progression |
| 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 | 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 | Middle Aged |
| 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 | Peroxins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peroxisomal Disorders |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Cytoplasmic and Nuclear |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guissart, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mallaret, Martial |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferdinandusse, Sacha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheillan, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drouot, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muller, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claustres, Mireille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tranchant, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anheim, Mathieu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koenig, Michel |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neurology |
| Related parts | vol. 263 |
| -- | no. 8 |
| -- | p. 1552-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00415-016-8167-3">https://doi.org/10.1007/s00415-016-8167-3</a> |
| Public note | Available from publisher's website |
No items available.