A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. (Record no. 20408024)

MARC details
000 -LEADER
fixed length control field 01548 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516013752.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201104s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1460-2156
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/brain/awq329
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 Valdmanis, Paul N
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20110411
245 00 - TITLE STATEMENT
Title A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Brain : a journal of neurology
Date of publication, distribution, etc. Feb 2011
300 ## - PHYSICAL DESCRIPTION
Extent 602-7 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 Amino Acid Sequence
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 Ataxia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Death
General subdivision drug effects
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Copy Number Variations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Knockdown Techniques
General subdivision methods
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 Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oligodeoxyribonucleotides, Antisense
General subdivision pharmacology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ubiquitin-Protein Ligases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Zebrafish
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dupré, Nicolas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lachance, Mathieu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stochmanski, Shawn J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Belzil, Veronique V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dion, Patrick A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thiffault, Isabelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brais, Bernard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weston, Lyle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Saint-Amant, Louis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Samuels, Mark E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rouleau, Guy A
773 0# - HOST ITEM ENTRY
Title Brain : a journal of neurology
Related parts vol. 134
-- no. Pt 2
-- p. 602-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/brain/awq329">https://doi.org/10.1093/brain/awq329</a>
Public note Available from publisher's website

No items available.