Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. (Record no. 30370355)

MARC details
000 -LEADER
fixed length control field 02233 a2200697 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518072637.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202004s 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.2019.11.002
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 Wang, Julia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200402
245 00 - TITLE STATEMENT
Title Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. 12 2019
300 ## - PHYSICAL DESCRIPTION
Extent 1237-1253 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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 Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Atrophy
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebellar Diseases
General subdivision genetics
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 Drosophila melanogaster
General subdivision growth & development
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 Fibroblasts
General subdivision metabolism
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 Lysosomes
General subdivision metabolism
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 Mitochondrial Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nervous System Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidative Stress
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 Rousseau, Justine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kim, Emily
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ehresmann, Sophie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cheng, Yi-Ting
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Duraine, Lita
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zuo, Zhongyuan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Park, Ye-Jin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li-Kroeger, David
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bi, Weimin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wong, Lee-Jun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rosenfeld, Jill
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gleeson, Joseph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Faqeih, Eissa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alkuraya, Fowzan S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wierenga, Klaas J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Jiani
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Afenjar, Alexandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nava, Caroline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Doummar, Diane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Keren, Boris
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Juusola, Jane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grompe, Markus
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bellen, Hugo J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Campeau, Philippe M
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 105
-- no. 6
-- p. 1237-1253
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2019.11.002">https://doi.org/10.1016/j.ajhg.2019.11.002</a>
Public note Available from publisher's website

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