Abstract:
BACKGROUND AND PURPOSE:Mutations in fused in sarcoma (FUS) were recently identified as a cause of familial amyotrophic lateral sclerosis (ALS). The frequency of occurrence of mutations in FUS in sets of patients with familial ALS remains to be established. METHODS:We sequenced the FUS gene in a cohort of patients with familial ALS seen at the neuromuscular clinic in Leuven. A total of 28 patients with SOD1-negative ALS from 22 families were analyzed. RESULTS:We identified a R521H mutation in 4 patients, belonging to a kindred of dominantly inherited classical ALS. The mutation segregated with disease. Mutations in FUS were observed in 2.9% of ALS pedigrees in our cohort. CONCLUSIONS:These results show that mutations in FUS are also a significant cause of familial ALS in Belgium.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Damme PV,Goris A,Race V,Hersmus N,Dubois B,Bosch LV,Matthijs G,Robberecht Wdoi
10.1111/j.1468-1331.2009.02859.xsubject
Has Abstractpub_date
2010-05-01 00:00:00pages
754-6issue
5eissn
1351-5101issn
1468-1331pii
ENE2859journal_volume
17pub_type
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doi:10.1111/j.1468-1331.2008.02376.x
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journal_title:European journal of neurology
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journal_title:European journal of neurology
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doi:10.1111/j.1468-1331.2010.02952.x
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journal_title:European journal of neurology
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journal_title:European journal of neurology
pub_type: 杂志文章
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02524.x
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journal_title:European journal of neurology
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doi:10.1111/ene.12645
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pub_type: 杂志文章
doi:10.1111/ene.13675
更新日期:2018-09-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.2001.00206.x
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journal_title:European journal of neurology
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doi:10.1111/ene.13388
更新日期:2017-10-01 00:00:00
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journal_title:European journal of neurology
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journal_title:European journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:European journal of neurology
pub_type: 杂志文章,评审
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更新日期:2001-11-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02062.x
更新日期:2008-03-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2007.01829.x
更新日期:2007-09-01 00:00:00
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journal_title:European journal of neurology
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doi:10.1111/ene.12827
更新日期:2015-11-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2004.01020.x
更新日期:2005-04-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02590.x
更新日期:2009-07-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14737
更新日期:2021-01-16 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13278
更新日期:2017-05-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1046/j.1468-1331.2001.00034.x
更新日期:2001-11-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02872.x
更新日期:2010-04-01 00:00:00