Novel mutations in (Record no. 27138676)

MARC details
000 -LEADER
fixed length control field 01527 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517152525.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201706s 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.0000000000003992
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 Manganelli, Fiore
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170605
245 00 - TITLE STATEMENT
Title Novel mutations in
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neurology
Date of publication, distribution, etc. May 2017
300 ## - PHYSICAL DESCRIPTION
Extent 2132-2140 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
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 Dystonin
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hereditary Sensory and Autonomic Neuropathies
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
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 Induced Pluripotent Stem Cells
General subdivision pathology
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurons
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA, Messenger
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Siblings
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parisi, Silvia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nolano, Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tao, Feifei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Paladino, Simona
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pisciotta, Chiara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tozza, Stefano
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nesti, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rebelo, Adriana P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Provitera, Vincenzo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santorelli, Filippo M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shy, Michael E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Russo, Tommaso
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zuchner, Stephan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santoro, Lucio
773 0# - HOST ITEM ENTRY
Title Neurology
Related parts vol. 88
-- no. 22
-- p. 2132-2140
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1212/WNL.0000000000003992">https://doi.org/10.1212/WNL.0000000000003992</a>
Public note Available from publisher's website

No items available.