Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. (Record no. 24862407)

MARC details
000 -LEADER
fixed length control field 01498 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517031304.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201508s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1526-632X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1212/WNL.0000000000001615
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 Riemersma, Moniek
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150803
245 00 - TITLE STATEMENT
Title Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neurology
Date of publication, distribution, etc. May 2015
300 ## - PHYSICAL DESCRIPTION
Extent 2177-82 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Arabs
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Consanguinity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dystroglycans
General subdivision deficiency
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 Frameshift Mutation
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 Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Israel
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Walker-Warburg Syndrome
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mandel, Hanna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Beusekom, Ellen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gazzoli, Isabella
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roscioli, Tony
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eran, Ayelet
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gershoni-Baruch, Ruth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gershoni, Moran
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pietrokovski, Shmuel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vissers, Lisenka E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lefeber, Dirk J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Willemsen, Michèl A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wevers, Ron A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Bokhoven, Hans
773 0# - HOST ITEM ENTRY
Title Neurology
Related parts vol. 84
-- no. 21
-- p. 2177-82
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1212/WNL.0000000000001615">https://doi.org/10.1212/WNL.0000000000001615</a>
Public note Available from publisher's website

No items available.