Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation. (Record no. 17222617)

MARC details
000 -LEADER
fixed length control field 01609 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515080229.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200711s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1590-1874
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s10072-007-0817-x
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 Ragno, M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20071128
245 00 - TITLE STATEMENT
Title Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Date of publication, distribution, etc. Aug 2007
300 ## - PHYSICAL DESCRIPTION
Extent 181-4 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 Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element CADASIL
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cystine
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family Health
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 Glycine
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 Italy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
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 Receptor, Notch3
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Notch
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cacchiò, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fabrizi, G M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scarcella, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Silvaggio, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cavallaro, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taioli, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Trojano, L
773 0# - HOST ITEM ENTRY
Title Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Related parts vol. 28
-- no. 4
-- p. 181-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s10072-007-0817-x">https://doi.org/10.1007/s10072-007-0817-x</a>
Public note Available from publisher's website

No items available.