A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias
10.1371/journal.pone.0113258
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sg-nus-scholar.10635-1426072024-04-25T06:20:59Z A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias Siddiqi S. Foo J.N. Vu A. Azim S. Silver D.L. Mansoor A. Tay S.K.H. Abbasi S. Hashmi A.H. Janjua J. Khalid S. Tai E.S. Yeo G.W. Khor C.C. BIOCHEMISTRY DUKE-NUS MEDICAL SCHOOL MEDICINE PAEDIATRICS 10.1371/journal.pone.0113258 PLoS ONE 9 12 e113258 2018-05-28T07:37:26Z 2018-05-28T07:37:26Z 2014 Article Siddiqi S., Foo J.N., Vu A., Azim S., Silver D.L., Mansoor A., Tay S.K.H., Abbasi S., Hashmi A.H., Janjua J., Khalid S., Tai E.S., Yeo G.W., Khor C.C. (2014). A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias. PLoS ONE 9 (12) : e113258. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0113258 19326203 http://scholarbank.nus.edu.sg/handle/10635/142607 000346382500080 Public Library of Science (PLoS) Scopus |
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| description |
10.1371/journal.pone.0113258 |
| author2 |
BIOCHEMISTRY |
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BIOCHEMISTRY Siddiqi S. Foo J.N. Vu A. Azim S. Silver D.L. Mansoor A. Tay S.K.H. Abbasi S. Hashmi A.H. Janjua J. Khalid S. Tai E.S. Yeo G.W. Khor C.C. |
| format |
Article |
| author |
Siddiqi S. Foo J.N. Vu A. Azim S. Silver D.L. Mansoor A. Tay S.K.H. Abbasi S. Hashmi A.H. Janjua J. Khalid S. Tai E.S. Yeo G.W. Khor C.C. |
| spellingShingle |
Siddiqi S. Foo J.N. Vu A. Azim S. Silver D.L. Mansoor A. Tay S.K.H. Abbasi S. Hashmi A.H. Janjua J. Khalid S. Tai E.S. Yeo G.W. Khor C.C. A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias |
| author_sort |
Siddiqi S. |
| title |
A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias |
| title_short |
A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias |
| title_full |
A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias |
| title_fullStr |
A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias |
| title_full_unstemmed |
A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias |
| title_sort |
novel splice-site mutation in als establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2018 |
| url |
http://scholarbank.nus.edu.sg/handle/10635/142607 |
| _version_ |
1800913270174908416 |