Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
About this item
Full title
Author / Creator
Deng, Han-Xiang , Chen, Wenjie , Hong, Seong-Tshool , Boycott, Kym M. , Gorrie, George H. , Siddique, Nailah , Yang, Yi , Fecto, Faisal , Shi, Yong , Zhai, Hong , Jiang, Hujun , Hirano, Makito , Rampersaud, Evadnie , Jansen, Gerard H. , Donkervoort, Sandra , Bigio, Eileen H. , Brooks, Benjamin R. , Ajroud, Kaouther , Sufit, Robert L. , Haines, Jonathan L. , Mugnaini, Enrico , Pericak-Vance, Margaret A. and Siddique, Teepu
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Ubiquilin 2 pathology in ALS and ALS/dementia
A study of a five-generation family with the usually fatal disorder amyotrophic lateral sclerosis (ALS) has identified mutations in the
UBQLN2
gene, which encodes the ubiquitin-like protein ubiquilin 2, as a cause of ALS and ALS/dementia. This finding is of particular interest as it links famil...
Alternative Titles
Full title
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Authors, Artists and Contributors
Author / Creator
Chen, Wenjie
Hong, Seong-Tshool
Boycott, Kym M.
Gorrie, George H.
Siddique, Nailah
Yang, Yi
Fecto, Faisal
Shi, Yong
Zhai, Hong
Jiang, Hujun
Hirano, Makito
Rampersaud, Evadnie
Jansen, Gerard H.
Donkervoort, Sandra
Bigio, Eileen H.
Brooks, Benjamin R.
Ajroud, Kaouther
Sufit, Robert L.
Haines, Jonathan L.
Mugnaini, Enrico
Pericak-Vance, Margaret A.
Siddique, Teepu
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3169705
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3169705
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/nature10353
