A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. (Record no. 22865987)

MARC details
000 -LEADER
fixed length control field 01536 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516155312.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201510s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-1331
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/ene.12220
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 Gregianin, E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20151022
245 00 - TITLE STATEMENT
Title A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of neurology
Date of publication, distribution, etc. Nov 2013
300 ## - PHYSICAL DESCRIPTION
Extent 1486-91 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 Adult
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 Heat-Shock Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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 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 Muscle Spasticity
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Paraplegia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Peripheral Nervous System Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Spinocerebellar Ataxias
General subdivision congenital
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vazza, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scaramel, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boaretto, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vettori, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leonardi, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tosatto, S C E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Manara, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pegoraro, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mostacciuolo, M L
773 0# - HOST ITEM ENTRY
Title European journal of neurology
Related parts vol. 20
-- no. 11
-- p. 1486-91
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/ene.12220">https://doi.org/10.1111/ene.12220</a>
Public note Available from publisher's website

No items available.