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Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations.

Abstract:

BACKGROUND: Juvenile amyotrophic lateral sclerosis (ALS) with basophilic inclusions is a form of ALS characterized by protein deposits in motor neurons that are morphologically and tinctorially distinct from those of classic sporadic ALS. The nosologic position of this type of ALS in the molecular pathologic and genetic classification of ALS is unknown. METHODS: We identified neuropathologically 4 patients with juvenile ALS with basophilic inclusions and tested the hypothesis that specific RN...

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Publication status:
Published

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Authors


Bäumer, D More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
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Journal:
Neurology
Volume:
75
Issue:
7
Pages:
611-618
Publication date:
2010-08-05
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
URN:
uuid:ca53755b-f6b8-4aea-8768-551ff7aec66e
Source identifiers:
241649
Local pid:
pubs:241649

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