Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. (Record no. 22431958)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02197 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516131751.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201304s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2012.11.021 |
| 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 | Martin, Elodie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130404 |
| 245 00 - TITLE STATEMENT | |
| Title | Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Feb 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 238-44 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | pathology |
| 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 | Family |
| 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 | Glucosylceramidase |
| 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 | Infant |
| 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 | Motor Neurons |
| General subdivision | pathology |
| 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 | Neuroimaging |
| 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 | Spastic Paraplegia, Hereditary |
| General subdivision | enzymology |
| 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 | Zebrafish |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | beta-Glucosidase |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schüle, Rebecca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smets, Katrien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rastetter, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boukhris, Amir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loureiro, José L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gonzalez, Michael A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mundwiller, Emeline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deconinck, Tine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wessner, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jornea, Ludmila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oteyza, Andrés Caballero |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Durr, Alexandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin, Jean-Jacques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schöls, Ludger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mhiri, Chokri |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lamari, Foudil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Züchner, Stephan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kabashi, Edor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brice, Alexis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevanin, Giovanni |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 92 |
| -- | no. 2 |
| -- | p. 238-44 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2012.11.021">https://doi.org/10.1016/j.ajhg.2012.11.021</a> |
| Public note | Available from publisher's website |
No items available.