Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. (Record no. 14462338)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01852 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514165855.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200405s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0006-8950 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/brain/awh080 |
| 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 | Le Ber, Isabelle |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040520 |
| 245 00 - TITLE STATEMENT | |
| Title | Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | Apr 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 759-67 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 | Adolescent |
| 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 | Apraxias |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biomarkers |
| General subdivision | blood |
| 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 | Child, Preschool |
| 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 | Gait Ataxia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 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 | Lod Score |
| 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 | Neuropsychological Tests |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ocular Motility Disorders |
| 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 | alpha-Fetoproteins |
| General subdivision | analysis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bouslam, Naïma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivaud-Péchoux, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guimarães, João |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benomar, Ali |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chamayou, Céline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goizet, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moreira, Maria-Ceù |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klur, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yahyaoui, Mohamed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Agid, Yves |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koenig, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevanin, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brice, Alexis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dürr, Alexandra |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 127 |
| -- | no. Pt 4 |
| -- | p. 759-67 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/awh080">https://doi.org/10.1093/brain/awh080</a> |
| Public note | Available from publisher's website |
No items available.