Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. (Record no. 24309225)

MARC details
000 -LEADER
fixed length control field 02114 a2200661 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517001213.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201503s 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/awu292
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 Corrochano, Silvia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150318
245 00 - TITLE STATEMENT
Title Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Brain : a journal of neurology
Date of publication, distribution, etc. Dec 2014
300 ## - PHYSICAL DESCRIPTION
Extent 3171-85 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 AMP-Activated Protein Kinases
General subdivision genetics
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 Channelopathies
General subdivision genetics
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 Mice
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 Myotonia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Myotonic Disorders
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element NAV1.4 Voltage-Gated Sodium Channel
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Paralyses, Familial Periodic
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Männikkö, Roope
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Joyce, Peter I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McGoldrick, Philip
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wettstein, Jessica
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lassi, Glenda
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raja Rayan, Dipa L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blanco, Gonzalo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Quinn, Colin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liavas, Andrianos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lionikas, Arimantas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amior, Neta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dick, James
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Healy, Estelle G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stewart, Michelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carter, Sarah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hutchinson, Marie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bentley, Liz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fratta, Pietro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cortese, Andrea
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cox, Roger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brown, Steve D M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tucci, Valter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wackerhage, Henning
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amato, Anthony A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Greensmith, Linda
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koltzenburg, Martin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hanna, Michael G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Acevedo-Arozena, Abraham
773 0# - HOST ITEM ENTRY
Title Brain : a journal of neurology
Related parts vol. 137
-- no. Pt 12
-- p. 3171-85
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/brain/awu292">https://doi.org/10.1093/brain/awu292</a>
Public note Available from publisher's website

No items available.